Associated Papers
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA et al.
Genes, 2025
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Chen L et al.
Journal of Neurology, 2024
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 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
Mechanisms and Treatments in Demyelinating CMT.
Fridman V et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2021
New evidence for secondary axonal degeneration in demyelinating neuropathies.
Moss KR et al.
Neuroscience Letters, 2021
Genetic modifiers and phenotypic variability in neuromuscular disorders.
Mroczek M et al.
Journal of Applied Genetics, 2020
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
Variants of genes encoding TNF receptors and ligands and proteins regulating TNF activation in familial multiple sclerosis.
Torre-Fuentes L et al.
Cns Neuroscience & Therapeutics, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Association of SNP in JPH1 gene with severity of disease in Charcot Marie Tooth 2K patients.
Kanwal S et al.
Jpma. the Journal of the Pakistan Medical Association, 2019
Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Tao F et al.
Journal of Neuromuscular Diseases, 2019
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.
Bacquet J et al.
Bmj Open, 2018
Clinical, electrophysiological, genetic, and imaging features of six Chinese Han patients with hereditary neuropathy with liability to pressure palsies (HNPP).
Chen B et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.
Lonjou C et al.
Bmc Cancer, 2017
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
The LITAF/SIMPLE I92V sequence variant results in an earlier age of onset of CMT1A/HNPP diseases.
Sinkiewicz-Darol E et al.
Neurogenetics, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy.
Potulska-Chromik A et al.
Muscle & Nerve, 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
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
A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.
Reyes-Marin K et al.
Clinical Neurology and Neurosurgery, 2011
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Zhang RX et al.
Yi Chuan = Hereditas, 2010
Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
Song S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
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
No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients.
Song SJ et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 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