Publications

• KIF5A variant in familial dystonia: A clinicogenetic study of a large Roma kindred.
  Parkinsonism Relat Disord Volume: 135 Page(s): 107825
  04/23/2025 Authors: Dulski J; Pant DC; Hoffman-Zacharska D; Kwaniak-Butowska M; Wszolek ZK; Sawek J
• Lack of motor defects and ALS-like neuropathology in heterozygous Sptlc1 Exon 2 deletion mice.
  
  02/23/2025 Authors: Pant DC; Lone MA; Parameswaran J; Ma F; Dutta P; Wang Z; Park J; Verma S; Hornemann T; Jiang J
• Identifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy.
  Gene Ther
  01/10/2025 Authors: Pant DC; Verma S
• Selective autophagy: the rise of the zebrafish model.
  Autophagy Volume: 17 Page(s): 3297 - 3305
  11/01/2021 Authors: Pant DC; Nazarko TY
• Biallelic mutations of the dihydroceramide desaturase DEGS1 gene cause a novel hypomyelinating leukodystrophy with a therapeutic hope
  Volume: 27 Page(s): 753 - 753
  07/01/2019 Authors: Pujol A; Pant D; Schluter A; Launay N; Aguilera S; Willis M; Colleaux L; Dorboz I; Patterson M; Gleeson J