Associated Papers
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Lauerova B et al.
European Journal of Medical Genetics, 2025
Identification and splicing analysis of the first deep intronic FIG4 variant causing Yunis-Varon syndrome.
Tang H et al.
Frontiers in Genetics, 2025
FIG4-Related Parkinsonism and the Particularities of the I41T Mutation: A Review of the Literature.
Boura I et al.
Genes, 2024
Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Beauregard-Lacroix É et al.
Genetics in Medicine Open, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP
T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.
Sait H et al.
American Journal of Medical Genetics. Part A, 2023
Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.
Stutterd CA et al.
European Journal of Medical Genetics, 2022
Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.
Yu Y et al.
Frontiers in Pediatrics, 2022
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
Shisheva A et al.
Molecular Neurobiology, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM et al.
Human Mutation, 2019
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
Hu B et al.
Annals of Neurology, 2018
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