Associated Papers
Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.
Shchagina O et al.
Frontiers in Genetics, 2024
Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy.
Shchagina O et al.
International Journal of Molecular Sciences, 2023
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L et al.
Nature Communications, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
Yuan JH et al.
Journal of Human Genetics, 2018
Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.
Cornelius A et al.
Frontiers in Pharmacology, 2017
Distally pronounced infantile spinal muscular atrophy with severe axonal and demyelinating neuropathy associated with the S230L mutation of SMN1.
Rudnik-Schöneborn S et al.
Neuromuscular Disorders : Nmd, 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
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
Iguchi M et al.
Muscle & Nerve, 2013
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Lupski JR et al.
Genome Medicine, 2013
Molecular genetics of charcot-marie-tooth disease: from genes to genomes.
Azzedine H et al.
Molecular Syndromology, 2012
Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
Laššuthová P et al.
Journal of Neurogenetics, 2012
High frequency of SH3TC2 mutations in Czech HMSN I patients.
Laššuthová P et al.
Clinical Genetics, 2011
Peripheral neuropathies: whole genome sequencing identifies causal variants in CMT.
Züchner S
Nature Reviews. Neurology, 2010
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
Lupski JR et al.
The New England Journal of Medicine, 2010