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
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
Exploring the impact of variations in the mucolipin1 protein that result in mucolipidosis type 4 using the technique of molecular docking and dynamics simulation.
K P et al.
Journal of Biomolecular Structure & Dynamics, 2024
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.
Zerem A et al.
Metabolic Brain Disease, 2021
The first genetically confirmed Japanese patient with mucolipidosis type IV.
Saijo H et al.
Clinical Case Reports, 2016
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