Associated Papers
Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.
Hou X et al.
Npj Genomic Medicine, 2025
Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.
Pasutharnchat N et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
39044379 (PubMed )
Supplement: ACN3-11-2201-s003.xlsx › ClinGen_VariantClassification
Perry Disease: Bench to Bedside Circulation and a Team Approach.
Mishima T et al.
Biomedicines, 2024
Perry Disease: Expanding the Genetic Basis.
Dulski J et al.
Movement Disorders Clinical Practice, 2023
Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.
Yu J et al.
Npj Parkinson's Disease, 2023
An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.
He J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022
Selective expression of neurodegenerative diseases-related mutant p150Glued in midbrain dopaminergic neurons causes progressive degeneration of nigrostriatal pathway.
Yu J et al.
Ageing and Neurodegenerative Diseases, 2022
Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.
Dulski J et al.
European Journal of Neurology, 2021
A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.
Zhang J et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Select a paper to view details