Associated Papers
Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.
Stump AL et al.
Biomolecules, 2023
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley J et al.
Elife, 2021
FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
Umair M et al.
Molecular Syndromology, 2021
Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
Wright GC et al.
Clinical Genetics, 2020
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 regulates lysosome membrane homeostasis independent of phosphatase function.
Bharadwaj R et al.
Human Molecular Genetics, 2016
Phosphatidylinositol 3,5-bisphosphate: low abundance, high significance.
McCartney AJ et al.
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2014
Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.
Cottenie E et al.
Neuromuscular Disorders : Nmd, 2013
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
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