Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J et al.
International Journal of Molecular Sciences, 2024
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.
Geroldi A et al.
Journal of Medical Genetics, 2024
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Identification and clinical characterization of Charcot-Marie-Tooth disease type 1C patients with LITAF p.G112S mutation.
Park J et al.
Genes & Genomics, 2022
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Screening for genetic mutations in patients with neuropathy without definite etiology is useful.
Vogt B et al.
Journal of Neurology, 2020
A Rare Case of Charcot-Marie-Tooth Disease Type 1C With an Unusual Presentation.
Khosa S et al.
Cureus, 2020
Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
Hsu YH et al.
Annals of Clinical and Translational Neurology, 2019
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
Charcot-Marie-Tooth disease type 1C: Clinical and electrophysiological findings for the c.334G>a (p.Gly112Ser) Litaf/Simple mutation.
Jerath NU et al.
Muscle & Nerve, 2017
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients.
Guimarães-Costa R et al.
European Journal of Neurology, 2017
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
Ho AK et al.
Bmc Biology, 2016
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
Laššuthová P et al.
Orphanet Journal of Rare Diseases, 2016
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
Antoniadi T et al.
Bmc Medical Genetics, 2015
Tryptophan to Glycine mutation in the position 116 leads to protein aggregation and decreases the stability of the LITAF protein.
Kumar CV et al.
Journal of Biomolecular Structure & Dynamics, 2015
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
Potulska-Chromik A et al.
Muscle & Nerve, 2014
Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
Klein CJ et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
LITAF mutations associated with Charcot-Marie-Tooth disease 1C show mislocalization from the late endosome/lysosome to the mitochondria.
Lacerda AF et al.
Plos One, 2014
Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.
Zhu H et al.
Molecular Biology of the Cell, 2013
SIMPLE: A new regulator of endosomal trafficking and signaling in health and disease.
Chin LS et al.
Communicative & Integrative Biology, 2013
Charcot-Marie-Tooth disease-linked protein SIMPLE functions with the ESCRT machinery in endosomal trafficking.
Lee SM et al.
The Journal of Cell Biology, 2012
Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome.
Potulska-Chromik A et al.
Folia Neuropathologica, 2012
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways.
Lee SM et al.
Journal of Cell Science, 2011
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Zhang RX et al.
Yi Chuan = Hereditas, 2010
Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.
Wiszniewski W et al.
Human Genetics, 2007
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations.
Latour P et al.
Journal of the Peripheral Nervous System : Jpns, 2006
How to assess the pathogenicity of mutations in Charcot-Marie-Tooth disease and other diseases?
Kochański A
Journal of Applied Genetics, 2006
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation.
Saifi GM et al.
Human Mutation, 2005
Early onset neuropathy in a compound form of Charcot-Marie-Tooth disease.
Meggouh F et al.
Annals of Neurology, 2005
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve.
Bennett CL et al.
Annals of Neurology, 2004
Disease mechanisms in inherited neuropathies.
Suter U et al.
Nature Reviews. Neuroscience, 2003
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C.
Street VA et al.
Neurology, 2003