Associated Papers
A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.
Arreola-Aldape CA et al.
Frontiers in Neuroscience, 2025
Clinical and genetic features of patients suffering from CMT4J.
Beloribi-Djefaflia S et al.
Journal of Neurology, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Prospects for gene replacement therapies in amyotrophic lateral sclerosis.
Giovannelli I et al.
Nature Reviews. Neurology, 2023
Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.
Liu CY et al.
Journal of Clinical Neurology (seoul, Korea), 2022
Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis.
Yilihamu M et al.
Frontiers in Neurology, 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
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC et al.
Clinical Genetics, 2020
Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database.
Tunca C et al.
Human Mutation, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
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
Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.
Hu B et al.
Annals of Neurology, 2018
A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade.
Gentil BJ et al.
Journal of Neuropathology and Experimental Neurology, 2017
FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.
Osmanovic A et al.
European Journal of Human Genetics : Ejhg, 2017
Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses.
Rajabally YA et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Mendelian disorders of PI metabolizing enzymes.
Staiano L et al.
Biochimica Et Biophysica Acta, 2015
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
Saporta MA et al.
Experimental Neurology, 2015
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Campeau PM et al.
American Journal of Human Genetics, 2013
The FIG4 gene does not play a major role in causing ALS in Italian patients.
Verdiani S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013
Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice.
Yan Q et al.
Journal of the Neurological Sciences, 2012
Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.
Nicholson G et al.
Brain : a Journal of Neurology, 2011
Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
Lenk GM et al.
Plos Genetics, 2011
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY et al.
American Journal of Human Genetics, 2009
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
Zhang X et al.
Brain : a Journal of Neurology, 2008
CMT4J: Charcot-Marie-Tooth disorder caused by mutations in FIG4.
de Leeuw CN
Clinical Genetics, 2008
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.
Chow CY et al.
Nature, 2007
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Scherrer C et al.
Journal of Tissue Engineering, 0