Hyder Jinnah MD/PhD
Overview
Hyder A. (Buz) Jinnah received his undergraduate degree from Duke University (Durham, North Carolina) and his M.D. and Ph.D. degrees from the University of California (San Diego, CA). He did his Neurology training at Johns Hopkins University (Baltimore, MD), and was on the faculty there for 10 years. Currently he is Professor of Neurology and Human Genetics at Emory University in Atlanta. He is widely known for his research in movement disorders, and particularly dystonia and neurogenetics. His laboratory focuses on developing a better understanding of these disorders via genetics and biochemistry, cell and animal models, and clinical studies with patients. He has held multiple large NIH grants, and has published more than 300 articles.
Academic Appointment
- Professor, Department of Pediatrics, Emory University
- Professor, Department of Human Genetics, Emory University
- Professor, Department of Neurology, Emory University
Education
Degrees
- PhD from University of California
- MD from School of Medicine, University of California
- BS from Duke University
Research
Publications
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Striatal cell-type-specific molecular signatures reveal potential therapeutic targets in a model of dystonia.
Neurobiol Dis Volume: 212 Page(s): 106981
08/01/2025 Authors: Roman KM; Dinasarapu AR; Cherian S; Fan X; Donsante Y; Aravind N; Chan CS; Jinnah HA; Hess EJ -
Diagnostic accuracy of screening tools for depression and anxiety in cervical dystonia.
Parkinsonism Relat Disord Volume: 136 Page(s): 107891
07/01/2025 Authors: Martino D; Ramezani M; Bellows S; Berman BD; Chang FC-F; Feuerstein J; Fung V; Berkmen GK; Malaty IA; MacIver C -
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Ann Clin Transl Neurol
06/18/2025 Authors: Thomsen M; Ott F; Loens S; Kilic-Berkmen G; Tan AH; Lim S-Y; Lohmann E; Schrder KM; Ipsen L; Nothacker LA -
Long-Term Safety and Efficacy of Repeat Treatments with DaxibotulinumtoxinA in Cervical Dystonia: Results from the ASPEN-Open-Label Study.
Mov Disord Clin Pract
05/29/2025 Authors: McAllister P; Patel AT; Banach M; Ellenbogen A; Slawek J; Paus S; Jinnah HA; Evidente V; Gross TM; Kazerooni R -
Definition and Classification of Dystonia.
Mov Disord
05/06/2025 Authors: Albanese A; Bhatia KP; Fung VSC; Hallett M; Jankovic J; Klein C; Krauss JK; Lang AE; Mink JW; Pandey S -
Response -- letter to the editor: Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.
Parkinsonism Relat Disord Volume: 134 Page(s): 107350
05/01/2025 Authors: Shaikh AG; Jinnah HA; Sedov A -
Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.
Ann Neurol Volume: 97 Page(s): 809 - 825
05/01/2025 Authors: Sorrentino U; O'Neill AG; Kollman JM; Jinnah HA; Zech M -
Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model.
Mol Ther Nucleic Acids Volume: 36 Page(s): 102466
03/11/2025 Authors: Maalouf KE; Frederick DM; Sharma N; Haidar EA; Xiao T; Han JS; Mahamdeh MS; Soberman RJ; Rufino-Ramos D; Kleinstiver BP -
Factor analysis and clustering of motor and psychiatric dimensions in idiopathic blepharospasm.
Parkinsonism Relat Disord Volume: 131 Page(s): 107241
02/01/2025 Authors: Gigante AF; Hallett M; Jinnah HA; Berardelli A; Perlmutter JS; Berman BD; Jankovic J; Bumer T; Comella C; Ercoli T -
Challenges in Describing Tremor and Dystonia.
Neurology Volume: 104 Page(s): e210209
01/28/2025 Authors: Shaikh AG; Fasano A; Pandey S; Helmich RC; Albanese A; Vidailhet M; Elble R; Fung VSC; Tijssen MA; Jeon BS -
Engaging dystonia networks with subthalamic stimulation.
Proc Natl Acad Sci U S A Volume: 122 Page(s): e2417617122
01/14/2025 Authors: Butenko K; Neudorfer C; Dembek TA; Hollunder B; Meyer GM; Li N; Oxenford S; Bahners BH; Al-Fatly B; Lofredi R -
Unraveling the neural signatures: Distinct pallidal patterns in dystonia subtypes.
Parkinsonism Relat Disord Volume: 130 Page(s): 107207
01/01/2025 Authors: Sedov A; Dzhalagoniya I; Semenova U; Gamaleya A; Tomskiy A; Jinnah HA; Shaikh AG -
External Factors Modulating Pain and Pain-Related Functional Impairment in Cervical Dystonia.
Mov Disord Clin Pract Volume: 11 Page(s): 1559 - 1570
12/01/2024 Authors: Martino D; Achen BMC; Morgante F; Erro R; Fox SH; Edwards MJ; Schrag A; Stamelou M; Appel-Cresswell S; Defazio G -
Describing Clinical Features of Movement Disorders for Effective Research Reporting.
Mov Disord Clin Pract Volume: 11 Suppl 3 Page(s): S8 - S14
12/01/2024 Authors: Fasano A; Jinnah HA -
Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America.
Orphanet J Rare Dis Volume: 19 Page(s): 438
11/26/2024 Authors: Rybalka E; Park HJ; Nalini A; Baskar D; Polavarapu K; Durmus H; Xia Y; Wan L; Shieh PB; Moghadaszadeh B -
Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies.
Mov Disord Volume: 39 Page(s): 2110 - 2116
11/01/2024 Authors: Laabs B-H; Lohmann K; Vollstedt E-J; Reinberger T; Nuxoll L-M; Kilic-Berkmen G; Perlmutter JS; Loens S; Cruchaga C; Franke A -
Striatal cell-type-specific molecular signatures reveal therapeutic targets in a model of dystonia.
bioRxiv
10/07/2024 Authors: Roman KM; Dinasarapu AR; Cherian S; Fan X; Donsante Y; Aravind N; Chan CS; Jinnah HA; Hess EJ -
Prevalence and clinical features of cervical dystonia in Parkinson's disease.
Parkinsonism Relat Disord Volume: 127 Page(s): 107114
10/01/2024 Authors: Higginbotham L; Scorr LM; Parra SP; Sommerfeld B; Jinnah HA; Factor SA -
Defining "Dystonic Tremor".
Mov Disord Clin Pract Volume: 11 Page(s): 1171 - 1172
09/01/2024 Authors: Boz D; Wu E; Shaikh AG; Jinnah HA -
Thyroid disease and cervical dystonia.
Parkinsonism Relat Disord Volume: 126 Page(s): 106082
09/01/2024 Authors: Kilic-Berkmen G; Scorr LM; Defazio G; Jinnah HA -
Duration of botulinum toxin efficacy in cervical dystonia clinical trials: A scoping review.
Parkinsonism Relat Disord Volume: 125 Page(s): 107011
08/01/2024 Authors: Castagna A; Jinnah HA; Albanese A -
Sex Differences in Dystonia.
Mov Disord Clin Pract Volume: 11 Page(s): 973 - 982
08/01/2024 Authors: Kilic-Berkmen G; Scorr LM; McKay L; Thayani M; Donsante Y; Perlmutter JS; Norris SA; Wright L; Klein C; Feuerstein JS -
Blood-Based Proteomics for Adult-Onset Focal Dystonias.
Ann Neurol Volume: 96 Page(s): 110 - 120
07/01/2024 Authors: Timsina J; Dinasarapu A; Kilic-Berkmen G; Budde J; Sung YJ; Klein AM; Cruchaga C; Jinnah HA -
Very Early Levodopa May Prevent Self-Injury in Lesch-Nyhan Disease.
Pediatr Neurol Volume: 155 Page(s): 156 - 159
06/01/2024 Authors: Visser JE; Chorin O; Jinnah HA -
Can symptoms or signs of cervical dystonia occur without abnormal movements of the head or neck?
Parkinsonism Relat Disord Volume: 123 Page(s): 106958
06/01/2024 Authors: Thayani M; Jinnah HA -
Demographics and Clinical Characteristics Associated with the Spread of New-Onset Laryngeal Dystonia.
Laryngoscope Volume: 134 Page(s): 2295 - 2299
05/01/2024 Authors: Ghanouni A; Jona N; Jinnah HA; Kilic-Berkmen G; Shelly S; Klein AM -
Exploration of potential immune mechanisms in cervical dystonia.
Parkinsonism Relat Disord Volume: 122 Page(s): 106036
05/01/2024 Authors: Scorr LM; Kilic-Berkmen G; Sutcliffe DJ; Dinasarapu AR; McKay JL; Bagchi P; Powell MD; Boss JM; Cereb N; Little M -
Interdisciplinary insights into tremor in dystonia: Navigating clinical controversies, definitional challenges, and pathophysiological complexities.
Parkinsonism Relat Disord Volume: 122 Page(s): 106068
05/01/2024 Authors: Shaikh AG; Jinnah HA -
Ultrastructural analysis of nigrostriatal dopaminergic terminals in a knockin mouse model of DYT1 dystonia.
Eur J Neurosci Volume: 59 Page(s): 1407 - 1427
04/01/2024 Authors: Pan K; Jinnah HA; Hess EJ; Smith Y; Villalba RM -
An Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm.
Mov Disord Volume: 39 Page(s): 738 - 745
04/01/2024 Authors: Kilic-Berkmen G; Kim H; Chen D; Yeo CI; Dinasarapu AR; Scorr LM; Yeo W-H; Peterson DA; Williams H; Ruby A -
Inosine monophosphate dehydrogenase intranuclear inclusions are markers of aging and neuronal stress in the human substantia nigra.
Neurobiol Aging Volume: 134 Page(s): 43 - 56
02/01/2024 Authors: Woulfe J; Munoz DG; Gray DA; Jinnah HA; Ivanova A -
Longitudinal predictors of health-related quality of life in isolated dystonia.
J Neurol Volume: 271 Page(s): 852 - 863
02/01/2024 Authors: Junker J; Hall J; Berman BD; Vidailhet M; Roze E; Bumer T; Malaty IA; Shukla AW; Jankovic J; Reich SG -
A new physiological medium uncovers biochemical and cellular alterations in Lesch-Nyhan disease fibroblasts.
Mol Med Volume: 30 Page(s): 3
01/03/2024 Authors: Escudero-Ferruz P; Ontiveros N; Cano-Estrada C; Sutcliffe DJ; Jinnah HA; Torres RJ; Lpez JM -
Tremor in cervical dystonia.
Dystonia Volume: 3
01/01/2024 Authors: Beylergil SB; Mukunda KN; Elkasaby M; Perlmutter JS; Factor S; Bumer T; Feurestein J; Shelton E; Bellows S; Jankovic J -
The wisdom of our mentors: clinical pearls in movement disorders.
Lancet Neurol Volume: 22 Page(s): 1108 - 1109
12/01/2023 Authors: Arajo R; Fearon C; Balint B; Bressman S; Friedman J; Jinnah HA; Tijssen MAJ; Lang A; Lees A; Lynch T -
An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia.
Mov Disord Clin Pract Volume: 10 Page(s): 1777 - 1786
12/01/2023 Authors: Boz D; Kilic-Berkmen G; Perlmutter JS; Norris SA; Wright LJ; Klein C; Bumer T; Lns S; Feuerstein JS; Mahajan A -
Spiny projection neurons exhibit transcriptional signatures within subregions of the dorsal striatum.
Cell Rep Volume: 42 Page(s): 113435
11/28/2023 Authors: Roman KM; Dinasarapu AR; VanSchoiack A; Ross PM; Kroeppler D; Jinnah HA; Hess EJ -
Proprioceptive Modulation of Pallidal Physiology in Cervical Dystonia.
Mov Disord Volume: 38 Page(s): 2094 - 2102
11/01/2023 Authors: Sedov A; Joshi P; Semenova U; Usova S; Asriyants S; Gamaleya A; Tomskiy A; Jinnah HA; Shaikh AG -
Interrater reliability of motor severity scales for hemifacial spasm.
J Neural Transm (Vienna) Volume: 130 Page(s): 1269 - 1279
10/01/2023 Authors: Lee HY; Park I; Luu MP; Zhao J; Vu JP; Cisneros E; Berman BD; Jinnah HA; Kim H-J; Liu CY -
Assessing the Severity of Cervical Dystonia: Ask the Doctor or Ask the Patient?
Mov Disord Clin Pract Volume: 10 Page(s): 1399 - 1403
09/01/2023 Authors: Cotton AC; Scorr L; McDonald W; Comella C; Perlmutter JS; Goetz CG; Jankovic J; Marsh L; Factor S; Jinnah HA -
Cerebellar Dysfunction as a Source of Dystonic Phenotypes in Mice.
Cerebellum Volume: 22 Page(s): 719 - 729
08/01/2023 Authors: Brown AM; van der Heijden ME; Jinnah HA; Sillitoe RV -
Cerebrospinal fluid levels of 5-HIAA and dopamine in people with HIV and depression.
J Neurovirol Volume: 29 Page(s): 440 - 448
08/01/2023 Authors: Fu R; Jinnah H; Mckay JL; Miller AH; Felger JC; Farber EW; Sharma S; Whicker N; Moore RC; Franklin D -
Isolated Cervical Dystonia: Diagnosis and Classification.
Mov Disord Volume: 38 Page(s): 1367 - 1378
08/01/2023 Authors: Albanese A; Bhatia KP; Cardoso F; Comella C; Defazio G; Fung VSC; Hallett M; Jankovic J; Jinnah HA; Kaji R -
The Pain in Dystonia Scale (PIDS)-Development and Validation in Cervical Dystonia.
Mov Disord Volume: 38 Page(s): 1175 - 1186
07/01/2023 Authors: Bruno V; Achen B; Morgante F; Erro R; Fox SH; Edwards MJ; Schrag A; Stamelou M; Appel-Cresswell S; Defazio G -
Effects of neck proprioceptive modulation on pallidal network connectivity in dystonia.
Volume: 2023
05/19/2023 Authors: Joshi P; Usova S; Jinnah HA; Sedov A; Gamaleya A; Shaikh AG; Semenova U; Tomskiy A -
Pain Reduction in Cervical Dystonia Following Treatment with IncobotulinumtoxinA: A Pooled Analysis.
Toxins (Basel) Volume: 15
05/12/2023 Authors: Albanese A; Wissel J; Jost WH; Castagna A; Althaus M; Comes G; Scheschonka A; Vacchelli M; Jinnah HA -
Striatal Subregion-selective Dysregulated Dopamine Receptor-mediated Intracellular Signaling in a Model of DOPA-responsive Dystonia.
Neuroscience Volume: 517 Page(s): 37 - 49
05/01/2023 Authors: Roman KM; Briscione MA; Donsante Y; Ingram J; Fan X; Bernhard D; Campbell SA; Downs AM; Gutman D; Sardar TA -
Validation of a guideline to reduce variability in diagnosing cervical dystonia.
J Neurol Volume: 270 Page(s): 2606 - 2612
05/01/2023 Authors: Defazio G; Belvisi D; Comella C; Hallett M; Jinnah HA; Cimino P; Latorre A; Mascia MM; Rocchi L; Gigante AF -
What Is Hemidystonia?
Mov Disord Clin Pract Volume: 10 Page(s): 477 - 481
03/01/2023 Authors: Vizcarra JA; Jinnah HA -
Thyroid disease in cervical dystonia.
Parkinsonism Relat Disord Volume: 107 Page(s): 105274
02/01/2023 Authors: Kilic-Berkmen G; Scorr LM; Rosen A; Wu E; Freeman A; Silver M; Hanfelt J; Jinnah HA -
Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach.
Dystonia Volume: 2
01/01/2023 Authors: Younce JR; Cascella RH; Berman BD; Jinnah HA; Bellows S; Feuerstein J; Wagle Shukla A; Mahajan A; Chang FCF; Duque KR -
Does Pallidal Physiology Determine the Success of Unilateral Deep Brain Stimulation in Cervical Dystonia?
Adv Neurobiol Volume: 31 Page(s): 211 - 221
01/01/2023 Authors: Sedov A; Gamaleya A; Semenova U; Medvednik R; Tomskiy A; Jinnah HA; Shaikh A -
Dystonia genes and their biological pathways.
Volume: 169 Page(s): 61 - 103
01/01/2023 Authors: Di Fonzo A; Jinnah HA; Zech M -
Adult-onset focal dystonias: To lump or split.
Volume: 169 Page(s): 317 - 327
01/01/2023 Authors: Jinnah HA; DeFazio G -
The functional anatomy of dystonia: Recent developments.
Volume: 169 Page(s): 105 - 136
01/01/2023 Authors: Corp DT; Morrison-Ham J; Jinnah HA; Joutsa J -
Clinical and Structural Findings in Patients With Lesion-Induced Dystonia: Descriptive and Quantitative Analysis of Published Cases.
Neurology Volume: 99 Page(s): e1957 - e1967
11/01/2022 Authors: Corp DT; Greenwood CJ; Morrison-Ham J; Pullinen J; McDowall GM; Younger EFP; Jinnah HA; Fox MD; Joutsa J -
Uric Acid in Parkinson's Disease: What Is the Connection?
Mov Disord Volume: 37 Page(s): 2173 - 2183
11/01/2022 Authors: Seifar F; Dinasarapu AR; Jinnah HA -
Motor and psychiatric features in idiopathic blepharospasm: A data-driven cluster analysis.
Parkinsonism Relat Disord Volume: 104 Page(s): 94 - 98
11/01/2022 Authors: Defazio G; Gigante AF; Hallett M; Berardelli A; Perlmutter JS; Berman BD; Jankovic J; Bumer T; Comella C; Ercoli T -
Measurement Properties of Clinical Scales Rating the Severity of Blepharospasm: A Multicenter Observational Study.
Mov Disord Clin Pract Volume: 9 Page(s): 949 - 955
10/01/2022 Authors: Defazio G; Hallett M; Berardelli A; Perlmutter JS; Berman BD; Jankovic J; Bumer T; Comella C; Ercoli T; Ferrazzano G -
Increased Prevalence of Thyroid Disease in Cervical Dystonia
Volume: 37 Page(s): S273 - S273
09/01/2022 Authors: Scorr L; Kilic-Berkmen G; Rosen A; Yeo C; Hanfelt J; Jinnah H -
Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence.
J Neurol Sci Volume: 439 Page(s): 120319
08/15/2022 Authors: Kilic-Berkmen G; Defazio G; Hallett M; Berardelli A; Ferrazzano G; Belvisi D; Klein C; Bumer T; Weissbach A; Perlmutter JS -
The apparent paradox of phenotypic diversity and shared mechanisms across dystonia syndromes.
Curr Opin Neurol Volume: 35 Page(s): 502 - 509
08/01/2022 Authors: Di Fonzo A; Albanese A; Jinnah HA -
Development of an App-Based Patient-Centered Outcome (PCO) Measure for Dystonia
Volume: 214 Page(s): S68 - S68
07/01/2022 Authors: Richardson SP; Berman B; Schneider SL; Hieshetter J; Hudgins C; Kuman K; Comella C; Peterson D; Hallett M; Kilic-Berkmen G -
Current Perspectives on the Management of Cervical Dystonia Among Global Clinicians
Volume: 214 Page(s): S28 - S28
07/01/2022 Authors: Jinnah HA; Ferraz HB; Standal S; Fattahi P; Zuzek A; Alibhai N; Merath K -
Cervical Dystonia with Tremor: One Movement Disorder or Two?
Mov Disord Clin Pract Volume: 9 Page(s): 719 - 720
07/01/2022 Authors: Kilic-Berkmen G; Jinnah HA -
Blockade of M4 muscarinic receptors on striatal cholinergic interneurons normalizes striatal dopamine release in a mouse model of TOR1A dystonia.
Neurobiol Dis Volume: 168 Page(s): 105699
06/15/2022 Authors: Downs AM; Donsante Y; Jinnah HA; Hess EJ -
Hold that pose: capturing cervical dystonia's head deviation severity from video.
Ann Clin Transl Neurol Volume: 9 Page(s): 684 - 694
05/01/2022 Authors: Zhang Z; Cisneros E; Lee HY; Vu JP; Chen Q; Benadof CN; Whitehill J; Rouzbehani R; Sy DT; Huang JS -
Clinical features, pathophysiology, treatment, and controversies of tremor in dystonia.
J Neurol Sci Volume: 435 Page(s): 120199
04/15/2022 Authors: Panyakaew P; Jinnah HA; Shaikh AG -
Head tremor in cervical dystonia: Quantifying severity with computer vision.
J Neurol Sci Volume: 434 Page(s): 120154
03/15/2022 Authors: Vu JP; Cisneros E; Lee HY; Le L; Chen Q; Guo XA; Rouzbehani R; Jankovic J; Factor S; Goetz CG -
Current Guidelines for Classifying and Diagnosing Cervical Dystonia: Empirical Evidence and Recommendations.
Mov Disord Clin Pract Volume: 9 Page(s): 183 - 190
02/01/2022 Authors: Kilic-Berkmen G; Pirio Richardson S; Perlmutter JS; Hallett M; Klein C; Wagle-Shukla A; Malaty IA; Reich SG; Berman BD; Feuerstein J -
Microstructural white matter abnormalities in Lesch-Nyhan disease.
Eur J Neurosci Volume: 55 Page(s): 264 - 276
01/01/2022 Authors: Del Bene VA; Crawford JL; Gmez-Gastiasoro A; Vannorsdall TD; Buchholz A; Ojeda N; Harris JC; Jinnah HA; Schretlen DJ -
From null to midline: changes in head posture do not predictably change head tremor in cervical dystonia.
Dystonia Volume: 1
01/01/2022 Authors: Vu JP; Cisneros E; Zhao J; Lee HY; Jankovic J; Factor SA; Goetz CG; Barbano RL; Perlmutter JS; Jinnah HA -
Clinical Features and Evolution of Blepharospasm: A Multicenter International Cohort and Systematic Literature Review.
Dystonia Volume: 1
01/01/2022 Authors: Scorr LM; Cho HJ; Kilic-Berkmen G; McKay JL; Hallett M; Klein C; Baumer T; Berman BD; Feuerstein JS; Perlmutter JS -
Abnormalities of neural stem cells in Lesch-Nyhan disease.
J Neurogenet Volume: 36 Page(s): 81 - 87
01/01/2022 Authors: Dinasarapu AR; Sutcliffe DJ; Seifar F; Visser JE; Jinnah HA -
A Multi-center Genome-wide Association Study of Cervical Dystonia.
Mov Disord Volume: 36 Page(s): 2795 - 2801
12/01/2021 Authors: Sun YV; Li C; Hui Q; Huang Y; Barbano R; Rodriguez R; Malaty IA; Reich S; Bambarger K; Holmes K -
The emerging neurological spectrum of AARS2-associated disorders.
Parkinsonism Relat Disord Volume: 93 Page(s): 50 - 54
12/01/2021 Authors: Parra SP; Heckers SH; Wilcox WR; Mcknight CD; Jinnah HA -
Predictive modeling of spread in adult-onset isolated dystonia: Key properties and effect of tremor inclusion.
Eur J Neurol Volume: 28 Page(s): 3999 - 4009
12/01/2021 Authors: Wang M; Sajobi T; Morgante F; Adler C; Agarwal P; Bumer T; Berardelli A; Berman BD; Blumin J; Borsche M -
Pallidal neuron activity determines responsiveness to deep brain stimulation in cervical dystonia.
Clin Neurophysiol Volume: 132 Page(s): 3190 - 3196
12/01/2021 Authors: Sedov A; Popov V; Gamaleya A; Semenova U; Tomskiy A; Jinnah HA; Shaikh AG -
Neuropathology of blepharospasm.
Exp Neurol Volume: 346 Page(s): 113855
12/01/2021 Authors: Fagan M; Scorr L; Bernhardt D; Hess EJ; Perlmutter JS; Pardo CA; Jinnah HA -
Identical twins with progressive kyphoscoliosis and ophthalmoplegia: Expert commentary.
Parkinsonism Relat Disord Volume: 92 Page(s): 123 - 124
11/01/2021 Authors: Vengoechea J; Li H; Jinnah HA -
Rare treatable movement disorders
Volume: 429
10/08/2021 Authors: Jinnah H -
Impaired Saccade Adaptation in Tremor-Dominant Cervical Dystonia-Evidence for Maladaptive Cerebellum.
Cerebellum Volume: 20 Page(s): 678 - 686
10/01/2021 Authors: Mahajan A; Gupta P; Jacobs J; Marsili L; Sturchio A; Jinnah HA; Espay AJ; Shaikh AG -
Diagnostic criteria for blepharospasm: A multicenter international study.
Parkinsonism Relat Disord Volume: 91 Page(s): 109 - 114
10/01/2021 Authors: Defazio G; Jinnah HA; Berardelli A; Perlmutter JS; Berkmen GK; Berman BD; Jankovic J; Bumer T; Comella C; Cotton AC -
Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord Volume: 36 Page(s): 2005 - 2016
09/01/2021 Authors: Thakur N; Klopstock T; Jackowski S; Kuscer E; Tricta F; Videnovic A; Jinnah HA -
Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia.
Brain Behav Volume: 11 Page(s): e2292
08/01/2021 Authors: Wadon ME; Bailey GA; Yilmaz Z; Hubbard E; AlSaeed M; Robinson A; McLauchlan D; Barbano RL; Marsh L; Factor SA -
Differential expression of striatal proteins in a mouse model of DOPA-responsive dystonia reveals shared mechanisms among dystonic disorders.
Mol Genet Metab Volume: 133 Page(s): 352 - 361
08/01/2021 Authors: Briscione MA; Dinasarapu AR; Bagchi P; Donsante Y; Roman KM; Downs AM; Fan X; Hoehner J; Jinnah HA; Hess EJ -
A Phase 2 Proof-of-Concept, Randomized, Placebo-Controlled Trial of CX-8998 in Essential Tremor.
Mov Disord Volume: 36 Page(s): 1944 - 1949
08/01/2021 Authors: Papapetropoulos S; Lee MS; Versavel S; Newbold E; Jinnah HA; Pahwa R; Lyons KE; Elble R; Ondo W; Zesiewicz T -
Deep brain stimulation in Lesch-Nyhan disease: outcomes from the patient's perspective.
Dev Med Child Neurol Volume: 63 Page(s): 963 - 968
08/01/2021 Authors: Visser JE; Cotton AC; Schretlen DJ; Bloch J; Tedroff K; Schechtmann G; Radu Djurfeldt D; Gonzalez V; Cif L; Jinnah HA -
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Stem Cell Reports Volume: 16 Page(s): 1749 - 1762
07/13/2021 Authors: Bell S; McCarty V; Peng H; Jefri M; Hettige N; Antonyan L; Crapper L; O'Leary LA; Zhang X; Zhang Y -
An Open-Label Phase 2a Study to Evaluate the Safety and Tolerability of Perampanel in Cervical Dystonia.
Mov Disord Clin Pract Volume: 8 Page(s): 743 - 749
07/01/2021 Authors: Fox SH; Swan M; Jinnah HA; de Freitas MET; de Oliveira LM; Al-Shorafat D; Fernandez HH; Kompoliti K; Comella C -
Cell-intrinsic effects of TorsinA(E) disrupt dopamine release in a mouse model of TOR1A dystonia.
Neurobiol Dis Volume: 155 Page(s): 105369
07/01/2021 Authors: Downs AM; Fan X; Kadakia RF; Donsante Y; Jinnah HA; Hess EJ -
Does Raising the Arms Modify Head Tremor Severity in Cervical Dystonia?
Tremor Other Hyperkinet Mov (N Y) Volume: 11 Page(s): 21
06/23/2021 Authors: Cisneros E; Vu JP; Lee HY; Chen Q; Benadof CN; Zhang Z; Pettitt EA; Joshi SK; Barbano RL; Jankovic J -
Worldwide barriers to genetic testing for movement disorders.
Eur J Neurol Volume: 28 Page(s): 1901 - 1909
06/01/2021 Authors: Gatto EM; Walker RH; Gonzalez C; Cesarini M; Cossu G; Stephen CD; Balint B; Rodrguez-Violante M; Jankovic J; Morgante F -
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord Volume: 36 Page(s): 1342 - 1352
06/01/2021 Authors: Klopstock T; Videnovic A; Bischoff AT; Bonnet C; Cif L; Comella C; Correa-Vela M; Escolar ML; Fraser JL; Gonzalez V -
Head tremor and pain in cervical dystonia.
J Neurol Volume: 268 Page(s): 1945 - 1950
05/01/2021 Authors: Vu JP; Lee HY; Chen Q; Cisneros E; Barbano RL; Goetz CG; Jankovic J; Jinnah HA; Perlmutter JS; Berman BD -
Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.
Sci Rep Volume: 11 Page(s): 8523
04/19/2021 Authors: Sutcliffe DJ; Dinasarapu AR; Visser JE; Hoed JD; Seifar F; Joshi P; Ceballos-Picot I; Sardar T; Hess EJ; Sun YV -
Feedback-dependent neuronal properties make focal dystonias so focal.
Eur J Neurosci Volume: 53 Page(s): 2388 - 2397
04/01/2021 Authors: Sedov A; Usova S; Popov V; Tomskiy A; Jinnah HA; Shaikh AG -
Neuronal Activity of Pallidal Versus Cerebellar Receiving Thalamus in Patients with Cervical Dystonia.
Cerebellum Volume: 20 Page(s): 151 - 159
04/01/2021 Authors: Semenova U; Medvednik R; Popov V; Jinnah HA; Shaikh AG; Sedov A -
Quality of life in isolated dystonia: non-motor manifestations matter.
J Neurol Neurosurg Psychiatry
02/09/2021 Authors: Junker J; Berman BD; Hall J; Wahba DW; Brandt V; Perlmutter JS; Jankovic J; Malaty IA; Wagle Shukla A; Reich SG -
Dystonia and Tremor: A Cross-Sectional Study of the Dystonia Coalition Cohort.
Neurology Volume: 96 Page(s): e563 - e574
01/26/2021 Authors: Shaikh AG; Beylergil SB; Scorr L; Kilic-Berkmen G; Freeman A; Klein C; Junker J; Loens S; Brggemann N; Mnchau A -
Oromandibular Dystonia: A Clinical Examination of 2,020 Cases.
Front Neurol Volume: 12 Page(s): 700714
01/01/2021 Authors: Scorr LM; Factor SA; Parra SP; Kaye R; Paniello RC; Norris SA; Perlmutter JS; Bumer T; Usnich T; Berman BD -
The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies.
Front Neurol Volume: 12 Page(s): 660909
01/01/2021 Authors: Kilic-Berkmen G; Wright LJ; Perlmutter JS; Comella C; Hallett M; Teller J; Pirio Richardson S; Peterson DA; Cruchaga C; Lungu C -
A metabolomic study of cervical dystonia.
Parkinsonism Relat Disord Volume: 82 Page(s): 98 - 103
01/01/2021 Authors: Liu C; Scorr L; Kilic-Berkmen G; Cotton A; Factor SA; Freeman A; Tran V; Liu K; Uppal K; Jones D -
Adapting to post-COVID19 research in Parkinson's disease: Lessons from a multinational experience.
Parkinsonism Relat Disord Volume: 82 Page(s): 146 - 149
01/01/2021 Authors: Tan E-K; Albanese A; Chaudhuri K; Lim S-Y; Oey NE; Shan Chan CH; Wu Y-C; Jeon B; Truong D; Poewe W -
It's tricky: Rating alleviating maneuvers in cervical dystonia.
J Neurol Sci Volume: 419 Page(s): 117205
12/15/2020 Authors: Cisneros E; Stebbins GT; Chen Q; Vu JP; Benadof CN; Zhang Z; Barbano RL; Fox SH; Goetz CG; Jankovic J -
Neurological research & training after the easing of lockdown in countries impacted by COVID-19.
J Neurol Sci Volume: 418 Page(s): 117105
11/15/2020 Authors: Tan E-K; Albanese A; Chaudhuri KR; Opal P; Wu Y-C; Chan CH-S; Jeon B; Truong D; Poewe W; Tan L -
Clinical and Demographic Characteristics of Upper Limb Dystonia.
Mov Disord Volume: 35 Page(s): 2086 - 2090
11/01/2020 Authors: Norris SA; Jinnah HA; Klein C; Jankovic J; Berman BD; Roze E; Mahajan A; Espay AJ; Murthy AV; Fung VSC -
Soft Nanomembrane Sensors and Flexible Hybrid Bioelectronics for Wireless Quantification of Blepharospasm.
IEEE Trans Biomed Eng Volume: 67 Page(s): 3094 - 3100
11/01/2020 Authors: Mahmood M; Kwon S; Berkmen GK; Kim Y-S; Scorr L; Jinnah HA; Yeo W-H -
Efficacy and Safety of the T-Type Calcium Channel Modulator CX-8998 in T-CALM, a Randomized, Double-Blind, Placebo-Controlled, Phase 2a Trial in Participants with Essential Tremor
Volume: 88 Page(s): S175 - S175
10/01/2020 Authors: Ondo W; Papapetropoulos S; Lee MS; Versavel S; Krouse A; Newbold E; Jinnah HA; Pahwa R; Lyons KE; Zesiewicz T -
Efficacy and safety of CX-8998 in T-CALM, a randomized, double-blind, placebo-controlled, phase 2a trial in participants with essential tremor: subgroup analysis by baseline tremor severity
Volume: 35 Page(s): S687 - S687
09/01/2020 Authors: Jinnah H; Papapetropoulos S; Lee M; Versavel S; Newbold E; Pahwa R; Lyons K; Elble R; Ondo W; Zesiewicz T -
Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease.
Proc Natl Acad Sci U S A Volume: 117 Page(s): 12071 - 12079
06/02/2020 Authors: Lpez JM; Outtrim EL; Fu R; Sutcliffe DJ; Torres RJ; Jinnah HA -
Pallidal Activity in Cervical Dystonia with and Without Head Tremor.
Cerebellum Volume: 19 Page(s): 409 - 418
06/01/2020 Authors: Sedov A; Usova S; Semenova U; Gamaleya A; Tomskiy A; Beylergil SB; Jinnah HA; Shaikh AG -
Medical and Surgical Treatments for Dystonia.
Neurol Clin Volume: 38 Page(s): 325 - 348
05/01/2020 Authors: Jinnah HA -
Efficacy and Safety of CX-8998 in T-CALM, a Randomized, Double-Blind, Placebo-Controlled, Phase 2a Trial in Participants With Essential Tremor: Subgroup Analysis by Baseline Tremor Severity
Volume: 94
04/14/2020 Authors: Jinnah HA; Papapetropoulos S; Lee M; Boyer S; Newbold E; Pahwa R; Lyons KE; Elble R; Ondo W; Zesiewicz T -
Combined occurrence of deleterious TOR1A and ANO3 variants in isolated generalized dystonia.
Parkinsonism Relat Disord Volume: 73 Page(s): 55 - 56
04/01/2020 Authors: Miocinovic S; Vengoechea J; LeDoux MS; Isbaine F; Jinnah HA -
Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study.
J Neurol Neurosurg Psychiatry Volume: 91 Page(s): 314 - 320
03/01/2020 Authors: Berman BD; Groth CL; Sillau SH; Pirio Richardson S; Norris SA; Junker J; Brggemann N; Agarwal P; Barbano RL; Espay AJ -
Postural Directionality and Head Tremor in Cervical Dystonia.
Tremor Other Hyperkinet Mov (N Y) Volume: 10
01/01/2020 Authors: Chen Q; Vu JP; Cisneros E; Benadof CN; Zhang Z; Barbano RL; Goetz CG; Jankovic J; Jinnah HA; Perlmutter JS -
Treatable inherited movement disorders
Volume: 405
10/15/2019 Authors: Jinnah H -
Editorial for neurobiology of disease special issue on dystonia progress in the neurobiology of dystonia.
Neurobiol Dis Volume: 130 Page(s): 104480
10/01/2019 Authors: Jinnah HA; Pisani A -
Soft Material-Enabled, Active Wireless, Thin-Film Bioelectronics for Quantitative Diagnostics of Cervical Dystonia.
Adv Mater Technol Volume: 4
10/01/2019 Authors: Kwon Y-T; Lee Y; Berkmen GK; Lim H-R; Scorr L; Jinnah HA; Yeo W-H -
Clinical and Demographic Characteristics Related to Onset Site and Spread of Limb Dystonia
Volume: 86 Page(s): S90 - S91
10/01/2019 Authors: Norris SA; Jinnah HA; Wright LJ; Perlmutter JS -
Relationship between jerky and sinusoidal oscillations in cervical dystonia.
Parkinsonism Relat Disord Volume: 66 Page(s): 130 - 137
09/01/2019 Authors: Beylergil SB; Singh AP; Zee DS; Jinnah HA; Shaikh AG -
New approaches to discovering drugs that treat dystonia.
Expert Opin Drug Discov Volume: 14 Page(s): 893 - 900
09/01/2019 Authors: Pirio Richardson S; Jinnah HA -
Dystonia genes and their biological pathways.
Neurobiol Dis Volume: 129 Page(s): 159 - 168
09/01/2019 Authors: Jinnah HA; Sun YV -
The Dystonias.
Continuum (Minneap Minn) Volume: 25 Page(s): 976 - 1000
08/01/2019 Authors: Jinnah HA -
Head tremor at disease onset: an ataxic phenotype of cervical dystonia.
J Neurol Volume: 266 Page(s): 1844 - 1851
08/01/2019 Authors: Merola A; Dwivedi AK; Shaikh AG; Tareen TK; Da Prat GA; Kauffman MA; Hampf J; Mahajan A; Marsili L; Jankovic J -
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.
Orphanet J Rare Dis Volume: 14 Page(s): 174
07/12/2019 Authors: Marshall RD; Collins A; Escolar ML; Jinnah HA; Klopstock T; Kruer MC; Videnovic A; Robichaux-Viehoever A; Burns C; Swett LL -
Network localization of cervical dystonia based on causal brain lesions.
Brain Volume: 142 Page(s): 1660 - 1674
06/01/2019 Authors: Corp DT; Joutsa J; Darby RR; Delnooz CCS; van de Warrenburg BPC; Cooke D; Prudente CN; Ren J; Reich MM; Batla A -
The role of pallidum in the neural integrator model of cervical dystonia.
Neurobiol Dis Volume: 125 Page(s): 45 - 54
05/01/2019 Authors: Sedov A; Usova S; Semenova U; Gamaleya A; Tomskiy A; Crawford JD; Corneil B; Jinnah HA; Shaikh AG -
Trihexyphenidyl rescues the deficit in dopamine neurotransmission in a mouse model of DYT1 dystonia.
Neurobiol Dis Volume: 125 Page(s): 115 - 122
05/01/2019 Authors: Downs AM; Fan X; Donsante C; Jinnah HA; Hess EJ -
Efficacy Result from a Phase 2, Double-Blind, Placebo-Controlled Study of CX-8998 a State-Dependent T-Type Calcium (Cav3) Channel Modulator in Essential Tremor Patients (T-CALM)
Volume: 92
04/09/2019 Authors: Papapetropoulos S; Lee M; Boyer S; Krouse A; Pahwa R; Lyons K; Ondo W; Jinnah H; Elble R -
The Dystonia Coalition Natural History Project: Nine Years of Progress
Volume: 92
04/09/2019 Authors: Norris S; Perlmutter J; Wright LJ; Hieshetter J; Kuman K; Jinnah H -
Wireless, Wearable, Soft Electronics for Blepharospasm Assessment
Volume: 92
04/09/2019 Authors: Scorr L; Yeo W-H; Kwon S; Kim Y-S; Berkmen GK; Cotton A; Jinnah H -
Head tremor: An ataxic phenotype of cervical dystonia
Volume: 34 Page(s): S15 - S15
04/01/2019 Authors: Merola A; Dwivedi AK; Shaikh AG; Tareen T; Da Prat GA; Kauffman MA; Hampf J; Jankovic J; Comella CL; Berman BD -
Macrocytic anemia in Lesch-Nyhan disease and its variants.
Genet Med Volume: 21 Page(s): 353 - 360
02/01/2019 Authors: Cakmakli HF; Torres RJ; Menendez A; Yalcin-Cakmakli G; Porter CC; Puig JG; Jinnah HA -
A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.
Mov Disord Clin Pract Volume: 6 Page(s): 139 - 149
02/01/2019 Authors: Marshall RD; Collins A; Escolar ML; Jinnah HA; Klopstock T; Kruer MC; Videnovic A; Robichaux-Viehoever A; Swett L; Revicki DA -
Shortage of Cellular ATP as a Cause of Diseases and Strategies to Enhance ATP.
Front Pharmacol Volume: 10 Page(s): 98
01/01/2019 Authors: Johnson TA; Jinnah HA; Kamatani N -
Implications of asymmetric neural activity patterns in the basal ganglia outflow in the integrative neural network model for cervical dystonia.
Volume: 249 Page(s): 261 - 268
01/01/2019 Authors: Sedov A; Semenova U; Usova S; Tomskiy A; Crawford JD; Jinnah HA; Shaikh AG -
Tremor in chronic inflammatory demyelinating polyneuropathy: Proof of unifying network model for dystonia.
Volume: 249 Page(s): 285 - 294
01/01/2019 Authors: Pyatka N; Sedov A; Walter BL; Jinnah HA; Shaikh AG -
Involuntary Thumb Flexion on Neurological Examination: An Unusual Form of Upper Limb Dystonia in the Faroe Islands.
Tremor Other Hyperkinet Mov (N Y) Volume: 9
01/01/2019 Authors: Kim CY; Petersen MS; Eliasen EH; Defazio G; Greene P; Jinnah HA; Tijssen MAJ; Louis ED -
Naming Genes for Dystonia: DYT-z or Ditzy?
Tremor Other Hyperkinet Mov (N Y) Volume: 9
01/01/2019 Authors: Mencacci NE; Jinnah HA -
Predictors of alcohol responsiveness in dystonia.
Neurology Volume: 91 Page(s): e2020 - e2026
11/20/2018 Authors: Junker J; Brandt V; Berman BD; Vidailhet M; Roze E; Weissbach A; Comella C; Malaty IA; Jankovic J; LeDoux MS -
A machine learning approach to determine the important patient characteristics for tremor prevalence and tremor irregularity in dystonia
Volume: 33 Page(s): S352 - S352
10/01/2018 Authors: Beylergil SB; Scorr L; Cotton A; Jinnah H; Shaikh A -
Genome-wide association study identifies common genetic variants associated with cervical dystonia
Volume: 33 Page(s): S315 - S316
10/01/2018 Authors: Sun Y; Hui Q; Perlmutter J; Ruehl S; Klein C; Jankovic J; Barbano R; Reich S; Bremner J; Vaccarino V -
Diagnostic Pathway and Clinical Experience of Patients with High versus Low Severity Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Volume: 84 Page(s): S93 - S94
10/01/2018 Authors: Jinnah HA; Lenderking W; Collins A; Escolar ML; Klopstock T; Kruer MC; Videnovic A; Robichaux-Viehoever A; Swett L; Revicki D -
Nicotinic Receptor Dysfunction Underlies Abnormal Responses to Muscarinic Receptor Antagonist Treatment in a Mouse Model of DYT1 Dystonia
Volume: 84 Page(s): S88 - S88
10/01/2018 Authors: Downs A; Fan X; Jinnah HA; Hess E -
Resource for Isolated, Idiopathic Dystonias
Volume: 84 Page(s): S200 - S201
10/01/2018 Authors: Perlmutter JS; Wright L; Hallett M; Comella C; Berkmen GK; Kassem A; Jinnah H -
Predicting Prevalence and Irregularity of Dystonic Tremor Using Machine Learning
Volume: 84 Page(s): S190 - S191
10/01/2018 Authors: Beylergil SB; Scorr L; Jinnah HA; Shaikh AG -
Clinical Characteristics of Oromandibular Dystonia: A Multicenter Review of 201 Cases
Volume: 84 Page(s): S90 - S90
10/01/2018 Authors: Scorr L; Factor SA; Jinnah HA -
Modeling DYT1 Dystonia Using Induced Pluripotent Stem Cells
Volume: 84 Page(s): S198 - S199
10/01/2018 Authors: Dinasarapu AR; Sutcliffe DJ; Zwick ME; Jinnah HA -
Common Polymorphism in Bdnfrs6265 May Impact Treatment Response to Deep Brain Stimulation versus Optimal Drug Therapy in Parkinson's Disease
Volume: 84 Page(s): S97 - S97
10/01/2018 Authors: Sutcliffe DJ; Dinasarapu AR; Zwick ME; Jinnah HA -
Compositional complexity of rods and rings.
Mol Biol Cell Volume: 29 Page(s): 2303 - 2316
09/15/2018 Authors: Schiavon CR; Griffin ME; Pirozzi M; Parashuraman R; Zhou W; Jinnah HA; Reines D; Kahn RA -
Consensus-Based Attributes for Identifying Patients With Spasmodic Dysphonia and Other Voice Disorders.
JAMA Otolaryngol Head Neck Surg Volume: 144 Page(s): 657 - 665
08/01/2018 Authors: Ludlow CL; Domangue R; Sharma D; Jinnah HA; Perlmutter JS; Berke G; Sapienza C; Smith ME; Blumin JH; Kalata CE -
A strategy for managing flu-like symptoms after botulinum toxin injections.
J Neurol Volume: 265 Page(s): 1932 - 1933
08/01/2018 Authors: George EB; Cotton AC; Shneyder N; Jinnah HA -
Longitudinal studies of botulinum toxin in cervical dystonia: Why do patients discontinue therapy?
Toxicon Volume: 147 Page(s): 89 - 95
06/01/2018 Authors: Jinnah HA; Comella CL; Perlmutter J; Lungu C; Hallett M; Dystonia Coalition Investigators -
Cervical dystonia and substance abuse
Volume: 90
04/10/2018 Authors: Mahajan A; Jankovic J; Marsh L; Patel A; Jinnah HA; Comella C; Barbano R; Perlmutter J; Patel N -
Striatal ERK is Activated in Response to L-DOPA Administration in a Knock-in Mouse Model of DOPA-Responsive Dystonia
Volume: 32
04/01/2018 Authors: Briscione M; Donsante C; Fan X; Campbell S; Bernhard D; Downs A; Gutman D; Sardar T; Shannon A; Sutcliffe DJ -
Cervical dystonia and substance abuse.
J Neurol Volume: 265 Page(s): 970 - 975
04/01/2018 Authors: Mahajan A; Jankovic J; Marsh L; Patel A; Jinnah HA; Comella C; Barbano R; Perlmutter J; Patel N; members of the Dystonia Coalition -
Pilot Single-Blind Trial of AbobotulinumtoxinA in Oromandibular Dystonia.
Neurotherapeutics Volume: 15 Page(s): 452 - 458
04/01/2018 Authors: Scorr LM; Silver MR; Hanfelt J; Sperin E; Freeman A; Jinnah HA; Factor SA -
Dopamine Receptor Agonist Treatment of Idiopathic Dystonia: A Reappraisal in Humans and Mice.
J Pharmacol Exp Ther Volume: 365 Page(s): 20 - 26
04/01/2018 Authors: Fan X; Donsante Y; Jinnah HA; Hess EJ -
Pharyngeal Dystonia Mimicking Spasmodic Dysphonia.
J Voice Volume: 32 Page(s): 234 - 238
03/01/2018 Authors: Shi LL; Simpson CB; Hapner ER; Jinnah HA; Johns MM -
Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.
Auton Neurosci Volume: 210 Page(s): 55 - 64
03/01/2018 Authors: Zizzo MG; Frinchi M; Nuzzo D; Jinnah HA; Mud G; Condorelli DF; Caciagli F; Ciccarelli R; Di Iorio P; Mul F -
Treatable inherited rare movement disorders.
Mov Disord Volume: 33 Page(s): 21 - 35
01/01/2018 Authors: Jinnah HA; Albanese A; Bhatia KP; Cardoso F; Da Prat G; de Koning TJ; Espay AJ; Fung V; Garcia-Ruiz PJ; Gershanik O -
Evolving concepts in the pathogenesis of dystonia.
Parkinsonism Relat Disord Volume: 46 Suppl 1 Page(s): S62 - S65
01/01/2018 Authors: Jinnah HA; Hess EJ -
Expert Opinion vs Patient Perspective in Treatment ofRareDisorders: Tooth Removal in Lesch-Nyhan Disease asanExample.
JIMD Rep Volume: 41 Page(s): 25 - 27
01/01/2018 Authors: Cotton AC; Bell RB; Jinnah HA -
Striatal Cholinergic Interneurons in a Knock-in Mouse Model of L-DOPA-Responsive Dystonia.
Front Syst Neurosci Volume: 12 Page(s): 28
01/01/2018 Authors: Yalcin-Cakmakli G; Rose SJ; Villalba RM; Williams L; Jinnah HA; Hess EJ; Smith Y -
Parkinsonism without dopamine neuron degeneration in aged l-dopa-responsive dystonia knockin mice.
Mov Disord Volume: 32 Page(s): 1694 - 1700
12/01/2017 Authors: Rose SJ; Harrast P; Donsante C; Fan X; Joers V; Tansey MG; Jinnah HA; Hess EJ -
Alterations of resting-state fMRI measurements in individuals with cervical dystonia.
Hum Brain Mapp Volume: 38 Page(s): 4098 - 4108
08/01/2017 Authors: Li Z; Prudente CN; Stilla R; Sathian K; Jinnah HA; Hu X -
A simple way to distinguish essential tremor from tremulous Parkinson's disease.
Brain Volume: 140 Page(s): 1820 - 1822
07/01/2017 Authors: Vidailhet M; Roze E; Jinnah HA -
Psychiatric associations of adult-onset focal dystonia phenotypes.
J Neurol Neurosurg Psychiatry Volume: 88 Page(s): 595 - 602
07/01/2017 Authors: Berman BD; Junker J; Shelton E; Sillau SH; Jinnah HA; Perlmutter JS; Espay AJ; Jankovic J; Vidailhet M; Bonnet C -
Oromandibular dystonia (OMD): A Prospective, Single-Blind Trial of AbobotulinumtoxinA (AboA)
Volume: 32
06/01/2017 Authors: Factor S; Silver M; Hanfelt J; Sperine E; Scorr L; Freeman A; Jinnah H -
Physiology of midbrain head movement neurons in cervical dystonia.
Mov Disord Volume: 32 Page(s): 904 - 912
06/01/2017 Authors: Sedov A; Popov V; Shabalov V; Raeva S; Jinnah HA; Shaikh AG -
Prospective, Single-blind, pilot trial of AbobotulinumtoxinA (AboA) in oromandibular dystonia (OMD)
Volume: 88
04/18/2017 Authors: Factor S; Silver M; Hanfelt J; Sperin E; Scorr L; Freeman A; Jinnah H -
Determinants of Quality of Life in Cranial Dystonia
Volume: 88
04/18/2017 Authors: Scorr L; Factor S; Jinnah H -
Prospective, Single-blind, pilot trial of AbobotulinumtoxinA (AboA) in oromandibular dystonia (OMD)
Volume: 88
04/18/2017 Authors: Factor S; Silver M; Hanfelt J; Sperin E; Scorr L; Freeman A; Jinnah H -
Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.
J Neural Transm (Vienna) Volume: 124 Page(s): 417 - 430
04/01/2017 Authors: Jinnah HA; Alterman R; Klein C; Krauss JK; Moro E; Vidailhet M; Raike R -
Blepharospasm 40 years later.
Mov Disord Volume: 32 Page(s): 498 - 509
04/01/2017 Authors: Defazio G; Hallett M; Jinnah HA; Conte A; Berardelli A -
Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.
Neurosci Biobehav Rev Volume: 75 Page(s): 22 - 39
04/01/2017 Authors: Nibbeling EAR; Delnooz CCS; de Koning TJ; Sinke RJ; Jinnah HA; Tijssen MAJ; Verbeek DS -
Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.
Cerebellum Volume: 16 Page(s): 577 - 594
04/01/2017 Authors: Shakkottai VG; Batla A; Bhatia K; Dauer WT; Dresel C; Niethammer M; Eidelberg D; Raike RS; Smith Y; Jinnah HA -
Dystonia treatment: Patterns of medication use in an international cohort.
Neurology Volume: 88 Page(s): 543 - 550
02/07/2017 Authors: Pirio Richardson S; Wegele AR; Skipper B; Deligtisch A; Jinnah HA; Dystonia Coalition Investigators -
The Anatomical Basis for Dystonia: The Motor Network Model.
Tremor Other Hyperkinet Mov (N Y) Volume: 7 Page(s): 506
01/01/2017 Authors: Jinnah HA; Neychev V; Hess EJ -
Research Priorities in Limb and Task-Specific Dystonias.
Front Neurol Volume: 8 Page(s): 170
01/01/2017 Authors: Pirio Richardson S; Altenmller E; Alter K; Alterman RL; Chen R; Frucht S; Furuya S; Jankovic J; Jinnah HA; Kimberley TJ -
Reply: Contributions of visual and motor signals in cervical dystonia.
Brain Volume: 140 Page(s): e5
01/01/2017 Authors: Shaikh AG; Zee DS; Crawford JD; Jinnah HA -
Dystonia, tremor, and dystonic tremor
Volume: 123 Page(s): 1515 - 1515
12/01/2016 Authors: Rosen A; Shaikh A; Jinnah HA -
Underlying heredity is associated with alcohol responsiveness in dystonia
Volume: 123 Page(s): 1516 - 1516
12/01/2016 Authors: Junker J; Brandt V; Weissbach A; Lohmann K; Perlmutter JS; Wright LJ; Rosen AR; Klein C; Jinnah HA; Brueggemann N -
Clinical and demographic characteristics related to onset site and spread of cervical dystonia.
Mov Disord Volume: 31 Page(s): 1874 - 1882
12/01/2016 Authors: Norris SA; Jinnah HA; Espay AJ; Klein C; Brggemann N; Barbano RL; Malaty IAC; Rodriguez RL; Vidailhet M; Roze E -
Objective, computerized video-based rating of blepharospasm severity.
Neurology Volume: 87 Page(s): 2146 - 2153
11/15/2016 Authors: Peterson DA; Littlewort GC; Bartlett MS; Macerollo A; Perlmutter JS; Jinnah HA; Hallett M; Sejnowski TJ -
"Complex" dystonia is not a category in the new 2013 consensus classification.
Mov Disord Volume: 31 Page(s): 1758 - 1759
11/01/2016 Authors: Albanese A; Bhatia K; DeLong MR; Fahn S; Fung VSC; Hallett M; Jankovic J; Jinnah HA; Mink JW; Teller JK -
Locus Pocus.
Mov Disord Volume: 31 Page(s): 1759 - 1760
11/01/2016 Authors: Jinnah HA -
Cervical dystonia: a neural integrator disorder.
Brain Volume: 139 Page(s): 2590 - 2599
10/01/2016 Authors: Shaikh AG; Zee DS; Crawford JD; Jinnah HA -
The Dystonia Coalition Natural History Project: Seven Years of Progress
MOVEMENT DISORDERS Volume: 31 Page(s): E4 - E4
09/01/2016 Authors: Norris S; Perlmutter JS; Wright L; Rosen AR; Comella C; Hallett M; Mink J; Hieshetter J; Kuman K; Jinnah HA -
The role of polymyography in the treatment of cervical dystonia: the authors reply.
J Neurol Volume: 263 Page(s): 1665
08/01/2016 Authors: Jinnah HA; Factor S -
A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.
Mol Genet Metab Volume: 118 Page(s): 160 - 166
07/01/2016 Authors: Khasnavis T; Torres RJ; Sommerfeld B; Puig JG; Chipkin R; Jinnah HA -
Clinical and genetic features of cervical dystonia in a large multicenter cohort.
Neurol Genet Volume: 2 Page(s): e69
06/01/2016 Authors: LeDoux MS; Vemula SR; Xiao J; Thompson MM; Perlmutter JS; Wright LJ; Jinnah HA; Rosen AR; Hedera P; Comella CL -
Botulinum toxin treatment failures in cervical dystonia: causes, management, and outcomes.
J Neurol Volume: 263 Page(s): 1188 - 1194
06/01/2016 Authors: Jinnah HA; Goodmann E; Rosen AR; Evatt M; Freeman A; Factor S -
Dystonia, tremor, and dystonic tremor
Volume: 31 Page(s): S537 - S537
06/01/2016 Authors: Rosen AR; Shaikh AG; Jinnah HA -
Clinical characteristics and natural history of oromandibular dystonia
Volume: 31 Page(s): S540 - S540
06/01/2016 Authors: Scorr L; Factor S; Jinnah H -
The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network.
Orphanet J Rare Dis Volume: 11 Page(s): 66
05/18/2016 Authors: Merkel PA; Manion M; Gopal-Srivastava R; Groft S; Jinnah HA; Robertson D; Krischer JP; Rare Diseases Clinical Research Network -
Clinical Characteristics and Natural History of Oromandibular and Lingual Dystonia
Volume: 86
04/05/2016 Authors: Scorr L; Factor S; Jinnah H -
Clinical Characteristics and Natural History of Oromandibular and Lingual Dystonia
Volume: 86
04/05/2016 Authors: Scorr L; Factor S; Jinnah H -
Potential mechanisms for low uric acid in Parkinson disease.
J Neural Transm (Vienna) Volume: 123 Page(s): 365 - 370
04/01/2016 Authors: Sampat R; Young S; Rosen A; Bernhard D; Millington D; Factor S; Jinnah HA -
A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease.
Mol Genet Metab Volume: 117 Page(s): 401 - 406
04/01/2016 Authors: Khasnavis T; Reiner G; Sommerfeld B; Nyhan WL; Chipkin R; Jinnah HA -
Clinimetric testing of the comprehensive cervical dystonia rating scale.
Mov Disord Volume: 31 Page(s): 563 - 569
04/01/2016 Authors: Comella CL; Perlmutter JS; Jinnah HA; Waliczek TA; Rosen AR; Galpern WR; Adler CA; Barbano RL; Factor SA; Goetz CG -
Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
J Inherit Metab Dis Volume: 39 Page(s): 85 - 91
01/01/2016 Authors: Schretlen DJ; Callon W; Ward RE; Fu R; Ho T; Gordon B; Harris JC; Jinnah HA -
A Functional Magnetic Resonance Imaging Study of Head Movements in Cervical Dystonia.
Front Neurol Volume: 7 Page(s): 201
01/01/2016 Authors: Prudente CN; Stilla R; Singh S; Buetefisch C; Evatt M; Factor SA; Freeman A; Hu XP; Hess EJ; Sathian K -
Comparative effectiveness of propranolol and botulinum for the treatment of essential voice tremor.
Laryngoscope Volume: 126 Page(s): 113 - 117
01/01/2016 Authors: Justicz N; Hapner ER; Josephs JS; Boone BC; Jinnah HA; Johns MM -
Cp/Heph mutant mice have iron-induced neurodegeneration diminished by deferiprone.
J Neurochem Volume: 135 Page(s): 958 - 974
12/01/2015 Authors: Zhao L; Hadziahmetovic M; Wang C; Xu X; Song Y; Jinnah HA; Wodzinska J; Iacovelli J; Wolkow N; Krajacic P -
A new knock-in mouse model of l-DOPA-responsive dystonia.
Brain Volume: 138 Page(s): 2987 - 3002
10/01/2015 Authors: Rose SJ; Yu XY; Heinzer AK; Harrast P; Fan X; Raike RS; Thompson VB; Pare J-F; Weinshenker D; Smith Y -
Diagnostic Delays in Spasmodic Dysphonia: A Call for Clinician Education.
J Voice Volume: 29 Page(s): 592 - 594
09/01/2015 Authors: Creighton FX; Hapner E; Klein A; Rosen A; Jinnah HA; Johns MM -
Ocular palatal tremor plus dystonia - new syndromic association.
Mov Disord Clin Pract Volume: 2 Page(s): 267 - 270
09/01/2015 Authors: Shaikh AG; Ghasia FF; DeLong MR; Jinnah HA; Freeman A; Factor SA -
DOES THE BEHAVIOURAL PHENOTYPE OF LESCH-NYHAN DISEASE/LESCH NYHAN VARIANT DISORDER CORRELATE BEST WITH HPRT OR GPRT ENZYME ACTIVITY?
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH Volume: 59 Page(s): 792 - 792
09/01/2015 Authors: Harris JC; Ward R; Callon W; Fu R; Jinnah H; Schretlen D -
Recent developments in dystonia.
Curr Opin Neurol Volume: 28 Page(s): 400 - 405
08/01/2015 Authors: Jinnah HA; Teller JK; Galpern WR -
Dystonia and cerebellar degeneration in the leaner mouse mutant.
Brain Res Volume: 1611 Page(s): 56 - 64
06/22/2015 Authors: Raike RS; Hess EJ; Jinnah HA -
Neural Substrates for Head Movements in Humans: A Functional Magnetic Resonance Imaging Study.
J Neurosci Volume: 35 Page(s): 9163 - 9172
06/17/2015 Authors: Prudente CN; Stilla R; Buetefisch CM; Singh S; Hess EJ; Hu X; Sathian K; Jinnah HA -
Dystonia: Five new things.
Neurol Clin Pract Volume: 5 Page(s): 232 - 240
06/01/2015 Authors: Berman BD; Jinnah HA -
Neural substrates for head movements in cervical dystonia: A functional magnetic resonance imaging study
Volume: 30 Page(s): S391 - S392
06/01/2015 Authors: Prudente CN; Stilla R; Singh S; Buetefisch C; Hu X; Hess EJ; Sathian K; Jinnah HA -
Development of the Comprehensive Cervical Dystonia Rating Scale: Methodology.
Mov Disord Clin Pract Volume: 2 Page(s): 135 - 141
06/01/2015 Authors: Comella CL; Fox SH; Bhatia KP; Perlmutter JS; Jinnah HA; Zurowski M; McDonald WM; Marsh L; Rosen AR; Waliczek T -
Why are voluntary head movements in cervical dystonia slow?
Parkinsonism Relat Disord Volume: 21 Page(s): 561 - 566
06/01/2015 Authors: Shaikh AG; Wong A; Zee DS; Jinnah HA -
Adult-onset axial dystonia responds to globus pallidus deep brain stimulation
Volume: 30 Page(s): S521 - S521
06/01/2015 Authors: Shaikh AG; Mewes K; Jinnah HA; DeLong MR; Gross RE; Triche S; Freeman A; Factor SA -
Ocular palatal tremor plus dystonia - A novel syndromic entity
Volume: 30 Page(s): S521 - S521
06/01/2015 Authors: Shaikh AG; Ghasia FF; DeLong MR; Jinnah HA; Freeman A; Factor SA -
Oscillatory head movements in cervical dystonia: Dystonia, tremor, or both?
Mov Disord Volume: 30 Page(s): 834 - 842
05/01/2015 Authors: Shaikh AG; Zee DS; Jinnah HA -
Development and validation of a clinical scale for rating the severity of blepharospasm.
Mov Disord Volume: 30 Page(s): 525 - 530
04/01/2015 Authors: Defazio G; Hallett M; Jinnah HA; Stebbins GT; Gigante AF; Ferrazzano G; Conte A; Fabbrini G; Berardelli A -
Consequences of impaired purine recycling on the proteome in a cellular model of Lesch-Nyhan disease.
Mol Genet Metab Volume: 114 Page(s): 570 - 579
04/01/2015 Authors: Dammer EB; Gttle M; Duong DM; Hanfelt J; Seyfried NT; Jinnah HA -
Secured web-based video repository for multicenter studies.
Parkinsonism Relat Disord Volume: 21 Page(s): 366 - 371
04/01/2015 Authors: Yan L; Hicks M; Winslow K; Comella C; Ludlow C; Jinnah HA; Rosen AR; Wright L; Galpern WR; Perlmutter JS -
Purinosome formation as a function of the cell cycle.
Proc Natl Acad Sci U S A Volume: 112 Page(s): 1368 - 1373
02/03/2015 Authors: Chan CY; Zhao H; Pugh RJ; Pedley AM; French J; Jones SA; Zhuang X; Jinnah H; Huang TJ; Benkovic SJ -
Diagnosis and treatment of dystonia.
Neurol Clin Volume: 33 Page(s): 77 - 100
02/01/2015 Authors: Jinnah HA; Factor SA -
Temporal profile of improvement of tardive dystonia after globus pallidus deep brain stimulation.
Parkinsonism Relat Disord Volume: 21 Page(s): 116 - 119
02/01/2015 Authors: Shaikh AG; Mewes K; DeLong MR; Gross RE; Triche SD; Jinnah HA; Boulis N; Willie JT; Freeman A; Alexander GE -
Brain white matter volume abnormalities in Lesch-Nyhan disease and its variants.
Neurology Volume: 84 Page(s): 190 - 196
01/13/2015 Authors: Schretlen DJ; Varvaris M; Vannorsdall TD; Gordon B; Harris JC; Jinnah HA -
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Mol Genet Metab Volume: 114 Page(s): 55 - 61
01/01/2015 Authors: Fu R; Sutcliffe D; Zhao H; Huang X; Schretlen DJ; Benkovic S; Jinnah HA -
Treatment of myoclonus-dystonia syndrome with tetrabenazine.
Parkinsonism Relat Disord Volume: 20 Page(s): 1423 - 1426
12/01/2014 Authors: Luciano AY; Jinnah HA; Pfeiffer RF; Truong DD; Nance MA; LeDoux MS -
The New Classification System for the Dystonias: Why Was it Needed and How was it Developed?
Mov Disord Clin Pract Volume: 1 Page(s): 280 - 284
12/01/2014 Authors: Jinnah HA; Albanese A -
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
Acta Neuropathol Commun Volume: 2 Page(s): 159
11/18/2014 Authors: Paudel R; Kiely A; Li A; Lashley T; Bandopadhyay R; Hardy J; Jinnah HA; Bhatia K; Houlden H; Holton JL -
Globus pallidus deep brain stimulation for adult-onset axial dystonia.
Parkinsonism Relat Disord Volume: 20 Page(s): 1279 - 1282
11/01/2014 Authors: Shaikh AG; Mewes K; Jinnah HA; DeLong MR; Gross RE; Triche S; Freeman A; Factor SA -
Lesch-Nyhan disease with no HPRT1 gene mutation?
Rev Clin Esp (Barc) Volume: 214 Page(s): 459 - 460
11/01/2014 Authors: Jinnah HA -
Consequences of Delayed Dental Extraction in Lesch-Nyhan Disease.
Mov Disord Clin Pract Volume: 1 Page(s): 225 - 229
09/01/2014 Authors: Goodman EM; Torres RJ; Puig JG; Jinnah HA -
Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.
Mol Genet Metab Volume: 112 Page(s): 280 - 285
08/01/2014 Authors: Fu R; Chen C-J; Jinnah HA -
Loss of dopamine phenotype among midbrain neurons in Lesch-Nyhan disease.
Ann Neurol Volume: 76 Page(s): 95 - 107
07/01/2014 Authors: Gttle M; Prudente CN; Fu R; Sutcliffe D; Pang H; Cooper D; Veledar E; Glass JD; Gearing M; Visser JE -
An F-FDG PET study of cervical muscle in parkinsonian anterocollis.
J Neurol Sci Volume: 340 Page(s): 174 - 177
05/15/2014 Authors: Revuelta GJ; Montilla J; Benatar M; Freeman A; Wichmann T; Jinnah HA; Delong MR; Factor SA -
Convergent validity of the revised motor and psychiatric TWSTRS modules of the comprehensive cervical dystonia rating scale (CCDRS)
Volume: 29 Page(s): S494 - S494
05/01/2014 Authors: Comella CL; Perlmutter JS; Jinnah HA; Factor S; Waliczek TA; Rosen AR; Galpern W; Goetz CG; Marsh L; Jankovic J -
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Brain Volume: 137 Page(s): 1282 - 1303
05/01/2014 Authors: Fu R; Ceballos-Picot I; Torres RJ; Larovere LE; Yamada Y; Nguyen KV; Hegde M; Visser JE; Schretlen DJ; Nyhan WL -
Imaging neural controls of head movements in humans
Volume: 29 Page(s): S90 - S90
05/01/2014 Authors: Prudente C; Stilla R; Buetefisch C; Hu X; Krish S; Jinnah HA -
A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.
Mol Genet Genomic Med Volume: 2 Page(s): 261 - 272
05/01/2014 Authors: Vemula SR; Xiao J; Zhao Y; Bastian RW; Perlmutter JS; Racette BA; Paniello RC; Wszolek ZK; Uitti RJ; Van Gerpen JA -
Distribution specific improvement of tardive dystonia after globus pallidus DBS implant
Volume: 29 Page(s): S465 - S465
05/01/2014 Authors: Shaikh AG; Jinnah HA; Mewes K; DeLong MR; Triche SD; Freeman A; Alexander G; Aia P; Buetefisch C; Esper CD -
Reliability and validity of the revised TWSTRS psychiatric module (TWSTRS-PSYCH) of the comprehensive cervical dystonia rating scale (CCDRS)
Volume: 29 Page(s): S180 - S181
05/01/2014 Authors: Zurowski MJ; McDonald W; Comella CL; Perlmutter JS; Jinnah HA; Factor S; Waliczek TA; Rosen AR; Galpern W; Goetz CG -
Reasons for failure of botulinum toxin treatments in cervical dystonia
Volume: 29 Page(s): S522 - S522
05/01/2014 Authors: Rosen AR; Goodman EM; Jinnah HA -
Dystonia after severe brain injuries
MOVEMENT DISORDERS Volume: 29 Page(s): 578 - 579
04/01/2014 Authors: Albanese A; Bhatia K; Bressman SB; DeLong MR; Fahn S; Fung VSC; Hallett M; Jankovic J; Jinnah HA; Klein C -
Reply: dystonia after severe head injuries.
Mov Disord Volume: 29 Page(s): 578 - 579
04/01/2014 Authors: Albanese A; Bhatia K; Bressman SB; Delong MR; Fahn S; Fung VSC; Hallett M; Jankovic J; Jinnah HA; Klein C -
Dystonia as a network disorder: what is the role of the cerebellum?
Neuroscience Volume: 260 Page(s): 23 - 35
02/28/2014 Authors: Prudente CN; Hess EJ; Jinnah HA -
Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia.
Neurobiol Dis Volume: 62 Page(s): 372 - 380
02/01/2014 Authors: Song C-H; Bernhard D; Hess EJ; Jinnah HA -
Designing clinical trials for dystonia.
Neurotherapeutics Volume: 11 Page(s): 117 - 127
01/01/2014 Authors: Galpern WR; Coffey CS; Albanese A; Cheung K; Comella CL; Ecklund DJ; Fahn S; Jankovic J; Kieburtz K; Lang AE -
Transcriptomic approach to Lesch-Nyhan disease.
Volume: 33 Page(s): 208 - 217
01/01/2014 Authors: Dauphinot L; Mockel L; Cahu J; Jinnah HA; Ledroit M; Potier M-C; Ceballos-Picot I -
How long does it take to diagnose cervical dystonia?
J Neurol Sci Volume: 335 Page(s): 72 - 74
12/15/2013 Authors: Tiderington E; Goodman EM; Rosen AR; Hapner ER; Johns MM; Evatt ML; Freeman A; Factor S; Jinnah HA -
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
Lancet Neurol Volume: 12 Page(s): 1151 - 1158
12/01/2013 Authors: Schretlen DJ; Varvaris M; Ho TE; Vannorsdall TD; Gordon B; Harris JC; Jinnah HA -
Purine metabolism during neuronal differentiation: the relevance of purine synthesis and recycling.
J Neurochem Volume: 127 Page(s): 805 - 818
12/01/2013 Authors: Gttle M; Burhenne H; Sutcliffe D; Jinnah HA -
Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.
Mol Genet Metab Volume: 110 Page(s): 268 - 274
11/01/2013 Authors: Ceballos-Picot I; Aug F; Fu R; Olivier-Bandini A; Cahu J; Chabrol B; Aral B; de Martinville B; Lecain J-P; Jinnah HA -
LESCH-NYHAN SYNDROME BEHAVIOURAL PHENOTYPE: CORTICAL THICKNESS & VOLUMETRIC ABNORMALITIES
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH Volume: 57 Page(s): 798 - 798
09/01/2013 Authors: Harris JC; Gerner G; Takayanagi Y; Ho T; Vannorsdall T; Jinnah H; Shretlen D -
Secondary blepharospasm associated with structural lesions of the brain.
J Neurol Sci Volume: 331 Page(s): 98 - 101
08/15/2013 Authors: Khooshnoodi MA; Factor SA; Jinnah HA -
Development and validation of a clinical guideline for diagnosing blepharospasm.
Neurology Volume: 81 Page(s): 236 - 240
07/16/2013 Authors: Defazio G; Hallett M; Jinnah HA; Berardelli A -
Keeping your head on target.
J Neurosci Volume: 33 Page(s): 11281 - 11295
07/03/2013 Authors: Shaikh AG; Wong AL; Zee DS; Jinnah HA -
The effects of sapropterin on urinary monoamine metabolites in phenylketonuria.
Mol Genet Metab Volume: 109 Page(s): 243 - 250
07/01/2013 Authors: Douglas TD; Jinnah HA; Bernhard D; Singh RH -
The dystonia coalition: Two years of progress
Volume: 68 Page(s): 80 - 80
06/15/2013 Authors: Rosen AR; Perlmutter JS; Comella C; Ludlow C; Galpern W; Ferguson J; Yan L; Waliczek T; Harbick S; Jinnah HA -
The focal dystonias: current views and challenges for future research.
Mov Disord Volume: 28 Page(s): 926 - 943
06/15/2013 Authors: Jinnah HA; Berardelli A; Comella C; Defazio G; Delong MR; Factor S; Galpern WR; Hallett M; Ludlow CL; Perlmutter JS -
Assessment of patients with isolated or combined dystonia: an update on dystonia syndromes.
Mov Disord Volume: 28 Page(s): 889 - 898
06/15/2013 Authors: Fung VSC; Jinnah HA; Bhatia K; Vidailhet M -
Dystonia rating scales: critique and recommendations.
Mov Disord Volume: 28 Page(s): 874 - 883
06/15/2013 Authors: Albanese A; Sorbo FD; Comella C; Jinnah HA; Mink JW; Post B; Vidailhet M; Volkmann J; Warner TT; Leentjens AFG -
The dystonias: past, present, and future.
Mov Disord Volume: 28 Page(s): 849 - 850
06/15/2013 Authors: Jinnah HA; Delong MR; Hallett M -
Phenomenology and classification of dystonia: a consensus update.
Mov Disord Volume: 28 Page(s): 863 - 873
06/15/2013 Authors: Albanese A; Bhatia K; Bressman SB; Delong MR; Fahn S; Fung VSC; Hallett M; Jankovic J; Jinnah HA; Klein C -
Induction of the metabolic regulator Txnip in fasting-induced and natural torpor.
Endocrinology Volume: 154 Page(s): 2081 - 2091
06/01/2013 Authors: Hand LE; Saer BRC; Hui ST; Jinnah HA; Steinlechner S; Loudon ASI; Bechtold DA -
Dystonia coalition: The first 2 years of a multicenter study
MOVEMENT DISORDERS Volume: 28 Page(s): S11 - S11
06/01/2013 Authors: Perlmutter JS; Yan L; Jinnah HA; Rosen AR; Comella C; Ludlow CL; Galpern WR; Coalition D -
Family history of dystonia among subjects recruited by the dystonia coalition
Volume: 28 Page(s): S26 - S26
06/01/2013 Authors: Rosen AR; Yan L; Perlmutter JS; Jinnah HA -
Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia.
Neurobiol Dis Volume: 54 Page(s): 362 - 371
06/01/2013 Authors: Song C-H; Bernhard D; Bolarinwa C; Hess EJ; Smith Y; Jinnah HA -
Prevalence of tremor among subjects recruited by the dystonia coalition
Volume: 28 Page(s): S26 - S26
06/01/2013 Authors: Rosen AR; Yan L; Perlmutter JS; Jinnah HA -
Development of a comprehensive cervical dystonia rating scale
MOVEMENT DISORDERS Volume: 28 Page(s): S34 - S35
06/01/2013 Authors: Comella CL; Stebbins GT; Zurowski M; Jinnah HA; Perlmutter JS; Waliczek TA; Rosen AR; Galpern W -
A novel mouse model of veno-occlusive disease provides strategies to prevent thioguanine-induced hepatic toxicity.
Gut Volume: 62 Page(s): 594 - 605
04/01/2013 Authors: Oancea I; Png CW; Das I; Lourie R; Winkler IG; Eri R; Subramaniam N; Jinnah HA; McWhinney BC; Levesque J-P -
Clinical Reasoning: a 57-year-old man with jaw spasms.
Neurology Volume: 80 Page(s): e104 - e107
03/05/2013 Authors: Mari Z; Rosenthal LS; Darwin KC; Hallett M; Jinnah HA -
Neuropathology of cervical dystonia.
Exp Neurol Volume: 241 Page(s): 95 - 104
03/01/2013 Authors: Prudente CN; Pardo CA; Xiao J; Hanfelt J; Hess EJ; Ledoux MS; Jinnah HA -
Personalized chemotherapy profiling using cancer cell lines from selectable mice.
Clin Cancer Res Volume: 19 Page(s): 1139 - 1146
03/01/2013 Authors: Kamiyama H; Rauenzahn S; Shim JS; Karikari CA; Feldmann G; Hua L; Kamiyama M; Schuler FW; Lin M-T; Beaty RM -
Stress, caffeine and ethanol trigger transient neurological dysfunction through shared mechanisms in a mouse calcium channelopathy.
Neurobiol Dis Volume: 50 Page(s): 151 - 159
02/01/2013 Authors: Raike RS; Weisz C; Hoebeek FE; Terzi MC; De Zeeuw CI; van den Maagdenberg AM; Jinnah HA; Hess EJ -
Lesch-Nyhan Disease and Epilepsy
Page(s): 227 - 245
01/01/2013 Authors: Markowski-Leeman BA; Jinnah HA -
Metabolic disorders of purine metabolism affecting the nervous system.
Handb Clin Neurol Volume: 113 Page(s): 1827 - 1836
01/01/2013 Authors: Jinnah HA; Sabina RL; Van Den Berghe G -
Limited regional cerebellar dysfunction induces focal dystonia in mice.
Neurobiol Dis Volume: 49 Page(s): 200 - 210
01/01/2013 Authors: Raike RS; Pizoli CE; Weisz C; van den Maagdenberg AMJM; Jinnah HA; Hess EJ -
Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia.
Neurobiol Dis Volume: 48 Page(s): 66 - 78
10/01/2012 Authors: Song C-H; Fan X; Exeter CJ; Hess EJ; Jinnah HA -
Coprevalence of anxiety and depression with spasmodic dysphonia: a case-control study.
J Voice Volume: 26 Page(s): 667.e1 - 667.e6
09/01/2012 Authors: White LJ; Hapner ER; Klein AM; Delgaudio JM; Hanfelt JJ; Jinnah HA; Johns MM -
Sleep fragmentation and motor restlessness in a Drosophila model of Restless Legs Syndrome.
Curr Biol Volume: 22 Page(s): 1142 - 1148
06/19/2012 Authors: Freeman A; Pranski E; Miller RD; Radmard S; Bernhard D; Jinnah HA; Betarbet R; Rye DB; Sanyal S -
Development and validation of clinical diagnostic guidelines for primary blepharospasm
Volume: 27 Page(s): S339 - S339
06/01/2012 Authors: Ferrazzano G; Cossu G; Fabbrini G; Fasano A; Martino D; Morgante F; Jinnah HA; Hallett M; Berardelli A; Defazio G -
The Dystonia Coalition: Three years of progress
Volume: 27 Page(s): S344 - S345
06/01/2012 Authors: Rosen AR; Perlmutter JS; Comella C; Ludlow C; Hallett M; Galpern W; Ferguson J; Yan L; Waliczeck T; Harbick S -
Hemi-masticatory spasm due to a pontine cavernoma: A case report and literature review
Volume: 27 Page(s): S84 - S84
06/01/2012 Authors: Rosenthal LS; Darwin K; Mari Z; Hallett M; Jinnah HA -
Recognition of adult-onset dystonia over time (1970 to 2007): Data from a multicenter Italian series
Volume: 27 Page(s): S350 - S350
06/01/2012 Authors: Macerollo A; Jinnah HA; Abbruzzese G; Bantivoglio AR; Liguori R; Santoro L; Berardelli A; Defazio G -
Neuropathology of primary cervical dystonia
Volume: 27 Page(s): S357 - S358
06/01/2012 Authors: Prudente CN; Xiao J; Pardo-Villamizar CA; LeDoux MS; Jinnah HA -
Clinical subtypes of anterocollis in parkinsonian syndromes.
J Neurol Sci Volume: 315 Page(s): 100 - 103
04/15/2012 Authors: Revuelta GJ; Benatar M; Freeman A; Wichmann T; Jinnah HA; DeLong MR; Factor SA -
Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.
Curr Rheumatol Rep Volume: 14 Page(s): 189 - 194
04/01/2012 Authors: Torres RJ; Puig JG; Jinnah HA -
Selective and sustained -amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor activation in cerebellum induces dystonia in mice.
J Pharmacol Exp Ther Volume: 340 Page(s): 733 - 741
03/01/2012 Authors: Fan X; Hughes KE; Jinnah HA; Hess EJ -
MicroRNA-mediated dysregulation of neural developmental genes in HPRT deficiency: clues for Lesch-Nyhan disease?
Hum Mol Genet Volume: 21 Page(s): 609 - 622
02/01/2012 Authors: Guibinga G-H; Hrustanovic G; Bouic K; Jinnah HA; Friedmann T -
Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.
J Biol Chem Volume: 287 Page(s): 2997 - 3008
01/27/2012 Authors: Fu R; Jinnah HA -
Convergent mechanisms in etiologically-diverse dystonias.
Expert Opin Ther Targets Volume: 15 Page(s): 1387 - 1403
12/01/2011 Authors: Thompson VB; Jinnah HA; Hess EJ -
Extreme task specificity in writer's cramp.
Mov Disord Volume: 26 Page(s): 2107 - 2109
09/01/2011 Authors: Shamim EA; Chu J; Scheider LH; Savitt J; Jinnah HA; Hallett M -
In the wink of an eye: nature and nurture in blepharospasm.
Neurology Volume: 77 Page(s): 616 - 617
08/16/2011 Authors: Jinnah HA; Hallett M -
Coprevalence of tremor with spasmodic dysphonia: a case-control study.
Laryngoscope Volume: 121 Page(s): 1752 - 1755
08/01/2011 Authors: White LJ; Klein AM; Hapner ER; Delgaudio JM; Hanfelt JJ; Jinnah HA; Johns MM -
The functional neuroanatomy of dystonia.
Neurobiol Dis Volume: 42 Page(s): 185 - 201
05/01/2011 Authors: Neychev VK; Gross RE; Lehricy S; Hess EJ; Jinnah HA -
Levodopa is not a useful treatment for Lesch-Nyhan disease.
Mov Disord Volume: 26 Page(s): 746 - 749
03/01/2011 Authors: Visser JE; Schretlen DJ; Bloem BR; Jinnah HA -
Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment?
Arch Neurol Volume: 68 Page(s): 270
02/01/2011 Authors: Fu R; Jinnah HA -
HPRT deficiency coordinately dysregulates canonical Wnt and presenilin-1 signaling: a neuro-developmental regulatory role for a housekeeping gene?
PLoS One Volume: 6 Page(s): e16572
01/28/2011 Authors: Kang TH; Guibinga G-H; Jinnah HA; Friedmann T -
BTBD9 EXPRESSION INFLUENCES BOTH DOPAMINE AND FERRITIN EXPRESSION
Volume: 34 Page(s): A11 - A11
01/01/2011 Authors: Freeman A; Pranski E; Betarbet R; Rye DB; Jinnah H; Sanyal S -
Needles in haystacks: the challenges of rare diseases.
Dev Med Child Neurol Volume: 53 Page(s): 6 - 7
01/01/2011 Authors: Jinnah HA -
Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.
Hum Genet Volume: 129 Page(s): 71 - 78
01/01/2011 Authors: Sampat R; Fu R; Larovere LE; Torres RJ; Ceballos-Picot I; Fischbach M; de Kremer R; Schretlen DJ; Puig JG; Jinnah HA -
Neuronal voltage-gated calcium channels: brief overview of their function and clinical implications in neurology.
Neurology Volume: 75 Page(s): 937
09/07/2010 Authors: Hess EJ; Jen JC; Jinnah HA; Benarroch EE -
Definition and classification of hyperkinetic movements in childhood.
Mov Disord Volume: 25 Page(s): 1538 - 1549
08/15/2010 Authors: Sanger TD; Chen D; Fehlings DL; Hallett M; Lang AE; Mink JW; Singer HS; Alter K; Ben-Pazi H; Butler EE -
HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE REGULATES EARLY DEVELOPMENTAL PROGRAMMING OF DOPAMINE NEURONS: IMPLICATIONS FOR LESCH-NYHAN DISEASE PATHOGENESIS
JOURNAL OF INHERITED METABOLIC DISEASE Volume: 33 Page(s): S175 - S175
08/01/2010 Authors: Ceballos-Picot I; Mockel L; Potier MC; Dauphinot L; Shirley TL; Torero-Ibad R; Fuchs J; Jinnah HA -
Environmental neurotoxin-induced progressive model of parkinsonism in rats.
Ann Neurol Volume: 68 Page(s): 70 - 80
07/01/2010 Authors: Shen W-B; McDowell KA; Siebert AA; Clark SM; Dugger NV; Valentino KM; Jinnah HA; Sztalryd C; Fishman PS; Shaw CA -
Attenuated variants of Lesch-Nyhan disease.
Brain Volume: 133 Page(s): 671 - 689
03/01/2010 Authors: Jinnah HA; Ceballos-Picot I; Torres RJ; Visser JE; Schretlen DJ; Verdu A; Larvere LE; Chen C-J; Cossu A; Wu C-H -
Kinematic and electromyographic tools for characterizing movement disorders in mice.
Mov Disord Volume: 25 Page(s): 265 - 274
02/15/2010 Authors: Scholle HC; Jinnah HA; Arnold D; Biedermann FHW; Faenger B; Grassme R; Hess EJ; Schumann NP -
Treatment strategies for dystonia.
Expert Opin Pharmacother Volume: 11 Page(s): 5 - 15
01/01/2010 Authors: Cloud LJ; Jinnah HA -
Gene expression and mRNA editing of serotonin receptor 2C in brains of HPRT gene knock-out mice, an animal model of Lesch-Nyhan disease.
J Clin Neurosci Volume: 16 Page(s): 1061 - 1063
08/01/2009 Authors: Bertelli M; Alushi B; Veicsteinas A; Jinnah HA; Micheli V -
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.
Arthritis Rheum Volume: 60 Page(s): 2201 - 2204
07/01/2009 Authors: Ea H-K; Bardin T; Jinnah HA; Aral B; Liot F; Ceballos-Picot I -
Single-dose administration of MK-0657, an NR2B-selective NMDA antagonist, does not result in clinically meaningful improvement in motor function in patients with moderate Parkinson's disease.
J Clin Pharmacol Volume: 49 Page(s): 856 - 864
07/01/2009 Authors: Addy C; Assaid C; Hreniuk D; Stroh M; Xu Y; Herring WJ; Ellenbogen A; Jinnah HA; Kirby L; Leibowitz MT -
Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
Hum Mol Genet Volume: 18 Page(s): 2317 - 2327
07/01/2009 Authors: Ceballos-Picot I; Mockel L; Potier M-C; Dauphinot L; Shirley TL; Torero-Ibad R; Fuchs J; Jinnah HA -
NAD metabolism in HPRT-deficient mice.
Metab Brain Dis Volume: 24 Page(s): 311 - 319
06/01/2009 Authors: Micheli V; Jacomelli G; Di Marcello F; Notarantonio L; Sestini S; Cerboni B; Bertelli M; Pompucci G; Jinnah HA -
Oscillatory head movements in cervical dystonia: Essential tremor, dystonic tremor, or head nystagmus?
Volume: 24 Page(s): S109 - S110
01/01/2009 Authors: Shaikh AG; Zee DS; Jinnah HA -
Movement disorders in ataxia-telangiectasia
Volume: 24 Page(s): S21 - S22
01/01/2009 Authors: Shaikh AG; Crawford TO; Zee DS; Jinnah HA -
Sinusoidal head oscillations in idiopathic cervical dystonia
Volume: 24 Page(s): S110 - S111
01/01/2009 Authors: Shaikh AG; Jinnah HA; Optican LM; Zee DS -
Effects of botulinum toxin on the oscillatory head movements in cervical dystonia
Volume: 24 Page(s): S108 - S109
01/01/2009 Authors: Shaikh AG; Zee DS; Jinnah HA -
Lesch-Nyhan disease: from mechanism to model and back again.
Dis Model Mech Volume: 2 Page(s): 116 - 121
01/01/2009 Authors: Jinnah HA -
Cerebral ischemia mediates the effect of serum uric acid on cognitive function.
Stroke Volume: 39 Page(s): 3418 - 3420
12/01/2008 Authors: Vannorsdall TD; Jinnah HA; Gordon B; Kraut M; Schretlen DJ -
Research priorities in spasmodic dysphonia.
Otolaryngol Head Neck Surg Volume: 139 Page(s): 495 - 505
10/01/2008 Authors: Ludlow CL; Adler CH; Berke GS; Bielamowicz SA; Blitzer A; Bressman SB; Hallett M; Jinnah HA; Juergens U; Martin SB -
The basal ganglia and cerebellum interact in the expression of dystonic movement.
Brain Volume: 131 Page(s): 2499 - 2509
09/01/2008 Authors: Neychev VK; Fan X; Mitev VI; Hess EJ; Jinnah HA -
Experimental therapeutics for dystonia.
Neurotherapeutics Volume: 5 Page(s): 198 - 209
04/01/2008 Authors: Jinnah HA; Hess EJ -
Consequences of impaired purine recycling in dopaminergic neurons.
Neuroscience Volume: 152 Page(s): 761 - 772
03/27/2008 Authors: Lewers JC; Ceballos-Picot I; Shirley TL; Mockel L; Egami K; Jinnah HA -
Irregularity distinguishes limb tremor in cervical dystonia from essential tremor.
J Neurol Neurosurg Psychiatry Volume: 79 Page(s): 187 - 189
02/01/2008 Authors: Shaikh AG; Jinnah HA; Tripp RM; Optican LM; Ramat S; Lenz FA; Zee DS -
Paroxysmal dyskinesias in mice.
Mov Disord Volume: 23 Page(s): 259 - 264
01/30/2008 Authors: Shirley TL; Rao LM; Hess EJ; Jinnah HA -
Animal models for drug discovery in dystonia.
Expert Opin Drug Discov Volume: 3 Page(s): 83 - 97
01/01/2008 Authors: Jinnah H; Richter A; Mink JW; Caldwell GA; Caldwell KA; Gonzalez-Alegre P; Cookson MR; Breakefield XO; Delong MR; Hess EJ -
Serum uric acid and brain ischemia in normal elderly adults.
Neurology Volume: 69 Page(s): 1418 - 1423
10/02/2007 Authors: Schretlen DJ; Inscore AB; Vannorsdall TD; Kraut M; Pearlson GD; Gordon B; Jinnah HA -
Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice.
Neurobiol Dis Volume: 27 Page(s): 249 - 257
09/01/2007 Authors: Devanagondi R; Egami K; LeDoux MS; Hess EJ; Jinnah HA -
A human neuronal tissue culture model for Lesch-Nyhan disease.
J Neurochem Volume: 101 Page(s): 841 - 853
05/01/2007 Authors: Shirley TL; Lewers JC; Egami K; Majumdar A; Kelly M; Ceballos-Picot I; Seidman MM; Jinnah HA -
Basal ganglia dopamine loss due to defect in purine recycling.
Neurobiol Dis Volume: 26 Page(s): 396 - 407
05/01/2007 Authors: Egami K; Yitta S; Kasim S; Lewers JC; Roberts RC; Lehar M; Jinnah HA -
Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficient mice.
Metab Brain Dis Volume: 22 Page(s): 39 - 43
03/01/2007 Authors: Smith DW; Jinnah HA -
Quantitative characteristics of limb tremor in cervical dystonia
Volume: 22 Page(s): S47 - S47
01/01/2007 Authors: Shaikh AG; Jinnah HA; Tripp RM; Ramat S; Zee DS -
Neuroanatomy of dystonia: A motor network concept
Volume: 22 Page(s): S45 - S45
01/01/2007 Authors: Neychev VK; Hess EJ; Mitev VI; Jinnah HA -
Neuropathology in idiopathic cervical dystonia
Volume: 22 Page(s): S114 - S114
01/01/2007 Authors: Zerrate MC; Pardo CA; Jinnah HA -
Extreme task specificity in writer's cramps
Volume: 22 Page(s): S111 - S112
01/01/2007 Authors: Shamim EA; Savitt JM; Jinnah HA; Hallett M -
Serum uric acid and cognitive function in community-dwelling older adults.
Neuropsychology Volume: 21 Page(s): 136 - 140
01/01/2007 Authors: Schretlen DJ; Inscore AB; Jinnah HA; Rao V; Gordon B; Pearlson GD -
Nifedipine suppresses self-injurious behaviors in animals.
Dev Neurosci Volume: 29 Page(s): 241 - 250
01/01/2007 Authors: Blake BL; Muehlmann AM; Egami K; Breese GR; Devine DP; Jinnah HA -
Treadmill locomotion in normal mice-Step related multi-channel EMG profiles of thigh muscles.
Pathophysiology Volume: 13 Page(s): 245 - 255
12/01/2006 Authors: Schumann NP; Biedermann FHW; Arnold D; Jinnah HA; Grassme R; Fischer MS; Scholle HC -
A new twist on the anatomy of dystonia: the basal ganglia and the cerebellum?
Neurology Volume: 67 Page(s): 1740 - 1741
11/28/2006 Authors: Jinnah HA; Hess EJ -
Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease).
Clin Chim Acta Volume: 373 Page(s): 104 - 107
11/01/2006 Authors: Bertelli M; Cecchin S; Lapucci C; Jacomelli G; Jinnah HA; Pandolfo M; Micheli V -
Sudden death in Lesch-Nyhan disease.
Dev Med Child Neurol Volume: 48 Page(s): 923 - 926
11/01/2006 Authors: Neychev VK; Jinnah HA -
Delineation of the motor disorder of Lesch-Nyhan disease.
Brain Volume: 129 Page(s): 1201 - 1217
05/01/2006 Authors: Jinnah HA; Visser JE; Harris JC; Verdu A; Larovere L; Ceballos-Picot I; Gonzalez-Alegre P; Neychev V; Torres RJ; Dulac O -
A novel mouse model for studying gender differences in dystonia
Volume: 21 Page(s): S388 - S388
01/01/2006 Authors: Shirley TL; Jinnah HA -
A 50-year-old man with acute-onset generalized seizure. Cerebral amyloid angiopathy and associated giant cell reaction.
Arch Pathol Lab Med Volume: 130 Page(s): e5 - e7
01/01/2006 Authors: Mikolaenko I; Mikolaenko I; Conner MG; Jinnah HA -
The role of dopamine receptors in the neurobehavioral syndrome provoked by activation of L-type calcium channels in rodents.
Dev Neurosci Volume: 28 Page(s): 505 - 517
01/01/2006 Authors: Kasim S; Blake BL; Fan X; Chartoff E; Egami K; Breese GR; Hess EJ; Jinnah HA -
A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease.
Neurobiol Dis Volume: 20 Page(s): 479 - 490
11/01/2005 Authors: Mikolaenko I; Rao LM; Roberts RC; Kolb B; Jinnah HA -
Behavioral aspects of Lesch-Nyhan disease and its variants.
Dev Med Child Neurol Volume: 47 Page(s): 673 - 677
10/01/2005 Authors: Schretlen DJ; Ward J; Meyer SM; Yun J; Puig JG; Nyhan WL; Jinnah HA; Harris JC -
A surface EMG multi-electrode technique for characterizing muscle activation patterns in mice during treadmill locomotion.
J Neurosci Methods Volume: 146 Page(s): 174 - 182
08/15/2005 Authors: Scholle HC; Biedermann F; Arnold D; Jinnah HA; Grassme R; Schumann NP -
Animal models of generalized dystonia.
NeuroRx Volume: 2 Page(s): 504 - 512
07/01/2005 Authors: Raike RS; Jinnah HA; Hess EJ -
Wilson's disease presenting with an unusual cough.
Mov Disord Volume: 20 Page(s): 891 - 893
07/01/2005 Authors: Crone NE; Jinnah HA; Reich SG -
Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines.
J Neurochem Volume: 93 Page(s): 1579 - 1586
06/01/2005 Authors: Pinto CS; Jinnah HA; Shirley TL; Nyhan WL; Seifert R -
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
Mol Genet Metab Volume: 85 Page(s): 70 - 77
05/01/2005 Authors: De Gregorio L; Jinnah HA; Harris JC; Nyhan WL; Schretlen DJ; Trombley LM; O'Neill JP -
Rodent models for dystonia research: characteristics, evaluation, and utility.
Mov Disord Volume: 20 Page(s): 283 - 292
03/01/2005 Authors: Jinnah HA; Hess EJ; Ledoux MS; Sharma N; Baxter MG; Delong MR -
An enigmatic relationship between dopamine and intracellular purine metabolism
Volume: 20 Page(s): S23 - S24
01/01/2005 Authors: Lewers JC; Shirley TL; Jinnah HA -
The spectrum of mutations causing HPRT deficiency: an update.
Nucleosides Nucleotides Nucleic Acids Volume: 23 Page(s): 1153 - 1160
10/01/2004 Authors: Jinnah HA; Harris JC; Nyhan WL; O'Neill JP -
The motor disorder of classic Lesch-Nyhan disease.
Nucleosides Nucleotides Nucleic Acids Volume: 23 Page(s): 1161 - 1164
10/01/2004 Authors: Visser JE; Harris JC; Barabas G; Eddey GE; Jinnah HA -
Tetrahydrobiopterin deficiency and dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
J Inherit Metab Dis Volume: 27 Page(s): 165 - 178
01/01/2004 Authors: Hyland K; Kasim S; Egami K; Arnold LA; Jinnah HA -
Abnormal motor behavior and vestibular dysfunction in the stargazer mouse mutant.
Neuroscience Volume: 127 Page(s): 785 - 796
01/01/2004 Authors: Khan Z; Carey J; Park HJ; Lehar M; Lasker D; Jinnah HA -
The motor disorder of variant Lesch-Nyhan disease
Volume: 19 Page(s): S87 - S87
01/01/2004 Authors: Jinnah HA; Visser JE; Torres RJ; Puig JG; Schretlen DJ; Harris JC -
PET imaging reveals profound loss of dopamine transporters in Lesch-Nyhan disease and its variants
Volume: 19 Page(s): S384 - S384
01/01/2004 Authors: Jinnah HA; Harris JC; Schretlen DJ; Torres RJ; Puig JG; Wong DF -
Self-biting induced by activation of L-type calcium channels in mice: dopaminergic influences.
Dev Neurosci Volume: 25 Page(s): 20 - 25
01/01/2003 Authors: Kasim S; Jinnah HA -
Expression of c-FOS in the brain after activation of L-type calcium channels.
Dev Neurosci Volume: 25 Page(s): 403 - 411
01/01/2003 Authors: Jinnah HA; Egami K; Rao L; Shin M; Kasim S; Hess EJ -
Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering.
Pharmacol Biochem Behav Volume: 73 Page(s): 631 - 637
10/01/2002 Authors: Fureman BE; Jinnah HA; Hess EJ -
Pharmacologic thresholds for self-injurious behavior in a genetic mouse model of Lesch-Nyhan disease.
Pharmacol Biochem Behav Volume: 73 Page(s): 583 - 592
10/01/2002 Authors: Kasim S; Jinnah HA -
Paroxysmal dyskinesias in the lethargic mouse mutant.
J Neurosci Volume: 22 Page(s): 8193 - 8200
09/15/2002 Authors: Khan Z; Jinnah HA -
Abnormal cerebellar signaling induces dystonia in mice.
J Neurosci Volume: 22 Page(s): 7825 - 7833
09/01/2002 Authors: Pizoli CE; Jinnah HA; Billingsley ML; Hess EJ -
Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
Brain Res Dev Brain Res Volume: 133 Page(s): 127 - 139
02/28/2002 Authors: Visser JE; Smith DW; Moy SS; Breese GR; Friedmann T; Rothstein JD; Jinnah HA -
Self-biting induced by activation of L-type calcium channels in mice: serotonergic influences.
Dev Neurosci Volume: 24 Page(s): 322 - 327
01/01/2002 Authors: Kasim S; Egami K; Jinnah HA -
Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia.
J Neurol Neurosurg Psychiatry Volume: 71 Page(s): 795 - 797
12/01/2001 Authors: Kasim S; Moo LR; Zschocke J; Jinnah HA -
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
J Int Neuropsychol Soc Volume: 7 Page(s): 805 - 812
11/01/2001 Authors: Schretlen DJ; Harris JC; Park KS; Jinnah HA; del Pozo NO -
Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA.
Neurobiol Dis Volume: 8 Page(s): 405 - 418
06/01/2001 Authors: Schilling G; Jinnah HA; Gonzales V; Coonfield ML; Kim Y; Wood JD; Price DL; Li XJ; Jenkins N; Copeland N -
Ocular motor dysfunction in Lesch-Nyhan disease.
Pediatr Neurol Volume: 24 Page(s): 200 - 204
03/01/2001 Authors: Jinnah HA; Lewis RF; Visser JE; Eddey GE; Barabas G; Harris JC -
Self-injurious behavior: gene-brain-behavior relationships.
Ment Retard Dev Disabil Res Rev Volume: 7 Page(s): 3 - 12
01/01/2001 Authors: Schroeder SR; Oster-Granite ML; Berkson G; Bodfish JW; Breese GR; Cataldo MF; Cook EH; Crnic LS; DeLeon I; Fisher W -
The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.
Mutat Res Volume: 463 Page(s): 309 - 326
10/01/2000 Authors: Jinnah HA; De Gregorio L; Harris JC; Nyhan WL; O'Neill JP -
The spectrum of mutations in Lesch-Nyhan syndrome
ANNALS OF NEUROLOGY Volume: 48 Page(s): 533 - 533
09/01/2000 Authors: Jinnah HA; De Gregorio L; Harris JC; Nyhan WR; O'Neill JP -
Animal models for Lesch-Nyhan syndrome
ANNALS OF NEUROLOGY Volume: 48 Page(s): 533 - 533
09/01/2000 Authors: Jinnah HA; Kasim S -
Calcium channel agonists and dystonia in the mouse.
Mov Disord Volume: 15 Page(s): 542 - 551
05/01/2000 Authors: Jinnah HA; Sepkuty JP; Ho T; Yitta S; Drew T; Rothstein JD; Hess EJ -
Lesch-Nyhan disease and the basal ganglia.
Brain Res Brain Res Rev Volume: 32 Page(s): 449 - 475
04/01/2000 Authors: Visser JE; Br PR; Jinnah HA -
Phase II studies of the glycine antagonist GV150526 in acute stroke - The North American experience
Volume: 31 Page(s): 358 - 365
02/01/2000 Authors: Babikian V; Licata-Gehr E; Joseph LN; Bailey P; Boyle R; MacDougall A; MacLean G; Wheelock WB; Kolyvas G; Banas T -
Calcium channel activation and self-biting in mice.
Proc Natl Acad Sci U S A Volume: 96 Page(s): 15228 - 15232
12/21/1999 Authors: Jinnah HA; Yitta S; Drew T; Kim BS; Visser JE; Rothstein JD -
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin (vol 8, pg 397, 1999)
HUMAN MOLECULAR GENETICS Volume: 8 Page(s): 943 - 943
05/01/1999 Authors: Schilling G; Becher MW; Sharp AH; Jinnah HA; Duan K; Kotzuk JA; Slunt HH; Ratovitski T; Cooper JK; Jenkins NA -
Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin.
Hum Mol Genet Volume: 8 Page(s): 397 - 407
03/01/1999 Authors: Schilling G; Becher MW; Sharp AH; Jinnah HA; Duan K; Kotzuk JA; Slunt HH; Ratovitski T; Cooper JK; Jenkins NA -
Bone marrow transplantation does not ameliorate the neurologic symptoms in mice deficient in hypoxanthine guanine phosphoribosyl transferase (HPRT).
Metab Brain Dis Volume: 14 Page(s): 57 - 65
03/01/1999 Authors: Wojcik BE; Jinnah HA; Muller-Sieburg CE; Friedmann T -
Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease.
J Neurochem Volume: 72 Page(s): 225 - 229
01/01/1999 Authors: Jinnah HA; Jones MD; Wojcik BE; Rothstein JD; Hess EJ; Friedmann T; Breese GR -
Ocular motor abnormalities in Lesch-Nyhan disease
ANNALS OF NEUROLOGY Volume: 44 Page(s): 453 - 453
09/01/1998 Authors: Jinnah HA; Harris JC; Rothstein JD; Barabas G; Eddey GE -
Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.
Arch Neurol Volume: 55 Page(s): 547 - 553
04/01/1998 Authors: Harris JC; Lee RR; Jinnah HA; Wong DF; Yaster M; Bryan RN -
Chronic meningitis with cranial neuropathies in Wegener's granulomatosis. Case report and review of the literature.
Arthritis Rheum Volume: 40 Page(s): 573 - 577
03/01/1997 Authors: Jinnah HA; Dixon A; Brat DJ; Hellmann DB -
Gene therapy and the brain.
Br Med Bull Volume: 51 Page(s): 138 - 148
01/01/1995 Authors: Jinnah HA; Friedmann T -
TRANSDUCTION OF HUMAN HPRT WITH A HERPES-DERIVED VECTOR
FASEB JOURNAL Volume: 8 Page(s): A659 - A659
03/18/1994 Authors: WOJCIK BE; JINNAH HA; JOHNSON PA; FRIEDMANN T -
Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease.
J Neurosci Volume: 14 Page(s): 1164 - 1175
03/01/1994 Authors: Jinnah HA; Wojcik BE; Hunt M; Narang N; Lee KY; Goldstein M; Wamsley JK; Langlais PJ; Friedmann T -
Brain purines in a genetic mouse model of Lesch-Nyhan disease.
J Neurochem Volume: 60 Page(s): 2036 - 2045
06/01/1993 Authors: Jinnah HA; Page T; Friedmann T -
Gene therapy for disorders of the nervous system.
Trends Biotechnol Volume: 11 Page(s): 192 - 197
05/01/1993 Authors: Friedmann T; Jinnah HA -
GRAFTING GENETICALLY MODIFIED CELLS IN A RAT MODEL OF PARKINSONS-DISEASE
NEUROLOGY Volume: 43 Page(s): A222 - A222
04/01/1993 Authors: KANG UJ; FISHER LJ; KUCZENSKI R; JINNAH HA; JOH TH; GAGE FH -
Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome.
J Pharmacol Exp Ther Volume: 263 Page(s): 596 - 607
11/01/1992 Authors: Jinnah HA; Langlais PJ; Friedmann T -
Spontaneous locomotor hyperactivity in a mouse mutant with a deletion including the Snap gene on chromosome 2.
J Neurosci Volume: 12 Page(s): 2865 - 2874
07/01/1992 Authors: Hess EJ; Jinnah HA; Kozak CA; Wilson MC -
Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization.
Mol Cell Neurosci Volume: 3 Page(s): 64 - 78
02/01/1992 Authors: Jinnah HA; Hess EJ; Wilson MC; Gage FH; Friedmann T -
Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome.
Behav Neurosci Volume: 105 Page(s): 1004 - 1012
12/01/1991 Authors: Jinnah HA; Gage FH; Friedmann T -
Survival and function of intrastriatally grafted primary fibroblasts genetically modified to produce L-dopa.
Neuron Volume: 6 Page(s): 371 - 380
03/01/1991 Authors: Fisher LJ; Jinnah HA; Kale LC; Higgins GA; Gage FH -
GENETICALLY MODIFIED CELLS - POTENTIAL THERAPEUTIC APPLICATION TO PARKINSONS-DISEASE
Volume: 4 Page(s): 259 - 269
01/01/1991 Authors: GAGE FH; FRIEDMANN T; FISHER LJ; JINNAH HA -
Animal models of Lesch-Nyhan syndrome.
Brain Res Bull Volume: 25 Page(s): 467 - 475
09/01/1990 Authors: Jinnah HA; Gage FH; Friedmann T -
Grafting genetically modified cells to the brain: conceptual and technical issues.
Prog Brain Res Volume: 82 Page(s): 1 - 10
01/01/1990 Authors: Gage FH; Fisher LJ; Jinnah HA; Rosenberg MB; Tuszynski MH; Friedmann T -
Grafting fibroblasts genetically modified to produce L-dopa in a rat model of Parkinson disease.
Proc Natl Acad Sci U S A Volume: 86 Page(s): 9011 - 9014
11/01/1989 Authors: Wolff JA; Fisher LJ; Xu L; Jinnah HA; Langlais PJ; Iuvone PM; O'Malley KL; Rosenberg MB; Shimohama S; Friedmann T -
Delivery of neuroactive compounds to the brain: potential utility of genetically modified cells.
Neurobiol Aging Volume: 10 Page(s): 644 - 645
01/01/1989 Authors: Tuszynski MH; Jinnah HA; Gage FH -
Gonadotropin-releasing hormone-mediated desensitization of cultured rat anterior pituitary cells can be uncoupled from luteinizing hormone release.
Endocrinology Volume: 118 Page(s): 2599 - 2604
06/01/1986 Authors: Jinnah HA; Conn PM -
GnRH-stimulated LH release from rat anterior pituitary cells in culture: refractoriness and recovery.
Am J Physiol Volume: 249 Page(s): E619 - E625
12/01/1985 Authors: Jinnah HA; Conn PM -
Molecular mechanism of gonadotropin releasing hormone action.
J Steroid Biochem Volume: 23 Page(s): 703 - 710
11/01/1985 Authors: Conn PM; Staley D; Jinnah H; Bates M -
Regulation of gonadotropin release, GnRH receptors, and gonadotrope responsiveness: a role for GnRH receptor microaggregation.
J Cell Biochem Volume: 27 Page(s): 13 - 21
01/01/1985 Authors: Conn PM; Rogers DC; Seay SG; Jinnah H; Bates M; Luscher D