Associated Papers
Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.
Bagyinszky E et al.
Cells, 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
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 2021
Destination Amyotrophic Lateral Sclerosis.
Keon M et al.
Frontiers in Neurology, 2021
33854469 (PubMed )
Supplement: Table_1.XLSX › Genes
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
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
Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.
Krüger S et al.
Frontiers in Molecular Neuroscience, 2016
Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.
Kenna KP et al.
Human Mutation, 2013
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.
Chow CY et al.
American Journal of Human Genetics, 2009
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