Associated Papers
Search for Additional Pathogenic Variants to Explain Variation in PMP22-Related Neuropathies.
van Paassen BW et al.
Neurology. Genetics, 2025
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Frezatti RSS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene-Related Demyelinating Peripheral Neuropathy.
Jaubert P et al.
European Journal of Neurology, 2025
Two novel SH3TC2 mutations predispose to Charcot-Marie-Tooth disease type 4C by mistargeting away from TFRC.
Li P et al.
Cellular Signalling, 2025
Bilateral Sensorineural Hearing Loss in a Patient with Primary Ciliary Dyskinesia and Concomitant SH3TC2 Gene Mutation.
Aldè M et al.
Journal of Clinical Medicine, 2025
Rare Variants Cause Charcot-Marie-Tooth Disease in Malian Families.
Yalcouyé A et al.
Brain and Behavior, 2025
Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.
Giannakis A et al.
Laboratory Medicine, 2025
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Current Treatment Methods for Charcot-Marie-Tooth Diseases.
Dong H et al.
Biomolecules, 2024
Charcot-Marie-Tooth Disease Type 4C and Autosomal Dominant Heterozygous Ichthyosis Vulgaris, with Bilateral Hearing Loss: A Novel Association with Review of Literature.
Chhajed M et al.
Journal of Pediatric Genetics, 2024
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
Ceprian M et al.
International Journal of Molecular Sciences, 2024
AAV9-mediated SH3TC2 gene replacement therapy targeted to Schwann cells for the treatment of CMT4C.
Georgiou E et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing.
Benquey T et al.
Genes, 2022
Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients.
Moosavi RS et al.
Iranian Journal of Child Neurology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J et al.
Molecular Genetics & Genomic Medicine, 2019
Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum.
Kontogeorgiou Z et al.
Journal of the Peripheral Nervous System : Jpns, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D 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 and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
Yuan JH et al.
Journal of Human Genetics, 2018
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.
Nadol JB et al.
Audiology & Neuro-otology, 2018
Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
Ichikawa K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G et al.
Journal of the Peripheral Nervous System : Jpns, 2016
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Werheid F et al.
Brain and Behavior, 2016
Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy.
Lupo V et al.
The Journal of Molecular Diagnostics : Jmd, 2016
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.
Tenorio J et al.
Clinical Genetics, 2015
Mediterranean Founder Mutation Database (MFMD): Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population.
Charoute H et al.
Human Mutation, 2015
Neurolymphomatosis: A report of 2 cases representing opposite ends of the clinical spectrum.
Lahoria R et al.
Muscle & Nerve, 2015
Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.
Manganelli F et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.
Sivera R et al.
Neurology, 2013
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.
Sevilla T et al.
Clinical Genetics, 2013
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
Tazir M et al.
Journal of the Peripheral Nervous System : Jpns, 2013
Charcot-Marie-Tooth disease type 4C in Japan: report of a case.
Iguchi M et al.
Muscle & Nerve, 2013
Recessively transmitted predominantly motor neuropathies.
Parman Y et al.
Handbook of Clinical Neurology, 2013
Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
Yger M et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Autosomal recessive Charcot-Marie-Tooth neuropathy.
Espinós C et al.
Advances in Experimental Medicine and Biology, 2012
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.
Lupo V et al.
Human Molecular Genetics, 2009
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system.
Arnaud E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Hereditary motor and sensory neuropathy Lom type in a Serbian family.
Dacković J et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2008
Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.
Brewer M et al.
Neurogenetics, 2008
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.
Gosselin I et al.
Neuromuscular Disorders : Nmd, 2008
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
Claramunt R et al.
Clinical Genetics, 2007
NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement.
Echaniz-Laguna A et al.
Neuromuscular Disorders : Nmd, 2007
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2.
Colomer J et al.
Neuromuscular Disorders : Nmd, 2006
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
Gooding R et al.
Journal of Medical Genetics, 2005
[Deletion of 17p11.2 chromosome in Spanish families with hereditary neuropathy and abnormal sensitivity to pressure].
Pou Serradell A et al.
Neurologia (barcelona, Spain), 1995