Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
Electrophysiological findings in SH3TC2 neuropathy mimicking inflammatory neuropathies.
Frezatti RSS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2025
Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.
Winzig F et al.
The Journal of Infectious Diseases, 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
High Diagnostic Yield of Next-Generation Sequencing in Charcot-Marie-Tooth Patients and a Novel Variant in the NDRG1 Gene.
Başdemirci M et al.
Molecular Syndromology, 2025
Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.
Sukrithan V et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 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
Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.
Loret C et al.
European Journal of Cell Biology, 2025
Trigeminal neuralgia, demyelinating polyneuropathy, and central nervous system involvement in a patient with an SH3TC2 mutation.
Giannakis A et al.
Laboratory Medicine, 2025
Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model.
Loret C et al.
Brain Research Bulletin, 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
A Role of Inflammation in Charcot-Marie-Tooth Disorders-In a Perspective of Treatment?
Kamińska J et al.
International Journal of Molecular Sciences, 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
CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.
Loret C et al.
Biomedicines, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Geroldi A et al.
Pediatric Neurology, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Late Onset of Severe Demyelinating Peripheral Neuropathy in a 62-Year-Old African American Woman.
Zivkovic SA et al.
Journal of Clinical Neuromuscular Disease, 2024
Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.
Shchagina O et al.
Frontiers in Genetics, 2024
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
Rehbein T et al.
Brain : a Journal of Neurology, 2023
A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes.
Wilson GN
Current Issues in Molecular Biology, 2023
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
High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Ceylan GG et al.
Revista Da Associacao Medica Brasileira (1992), 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
Current profile of Charcot-Marie-Tooth disease in Africa: A systematic review.
Yalcouyé A et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Pyromali I et al.
Journal of Personalized Medicine, 2022
Charcot-Marie-Tooth disease type 4C associated with myasthenia gravis: coincidental or a foreseeable association?
Lorenzoni PJ et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases.
Grunseich C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Hereditary neuropathies: A pathological perspective.
Cavallaro T et al.
Journal of the Peripheral Nervous System : Jpns, 2021
Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.
Uchôa Cavalcanti EB et al.
Journal of the Peripheral Nervous System : Jpns, 2021
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.
Pagnamenta AT et al.
Brain : a Journal of Neurology, 2021
Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
McMacken G et al.
European Journal of Neurology, 2021
Characteristics of Clinical and Electrophysiological Pattern in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth 4C.
Duan X et al.
Frontiers in Neurology, 2021
The Importance of Multiple Gene Analysis for Diagnosis and Differential Diagnosis in Charcot Marie Tooth Disease.
Yalcintepe S et al.
Turkish Neurosurgery, 2021
Mutation profiling in eight cases of vagal paragangliomas.
Kudryavtseva AV et al.
Bmc Medical Genomics, 2020
Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.
Rudnik-Schöneborn S et al.
European Journal of Neurology, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft SJ et al.
Annals of Clinical and Translational Neurology, 2020
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese A et al.
Neurology, 2020
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati EL et al.
Genome Medicine, 2019
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J et al.
Journal of the Neurological Sciences, 2019
Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.
Pipis M et al.
Nature Reviews. Neurology, 2019
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
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019