Associated Papers
A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: clinical, genetic, and molecular dynamics-based structural analysis.
Mohsenipour M et al.
Bmc Medical Genomics, 2025
41430707 (PubMed )
Supplement: 12920_2025_2271_MOESM1_ESM.xlsx › Sheet2
A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism.
Ghasemi A et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2025
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
Manzoor H et al.
Parkinsonism & Related Disorders, 2018
Abstracts of the Third International Congress on Treatment of Dystonia, 4-7 May 2016, Hannover, Germany.
Unknown Author
Journal of Neural Transmission (vienna, Austria : 1996), 2016
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