Sexual health in neuromuscular diseases: Neglected challenges revealed by a scoping review.

Multiple Sclerosis in Charcot-Marie-Tooth Disease Type 1A - A Case Report and Literature Review.

Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease.

Patient-derived neural organoids reveal developmental impairments associated with a novel GJB1 mutation in X-linked Charcot-Marie-Tooth disease.

Lipid dependence of connexin-32 gap junction channel conformations.

Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders.

Concurrent FHL1-Related Myopathy and CMT1A Unveiled by Persistent Neuropathic Feature.

[A case of X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) diagnosed based on recurrent brain lesions despite peripheral neuropathy responsive to immunotherapy].

A Family With X-Linked Charcot-Marie-Tooth Disease Type 1: A Case for Reclassifying a Variant of Uncertain Significance in GJB1and Review of the Literature.

Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study.

Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.

Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

A dose escalation and safety study of AAVrh10-mediated Schwann cell-targeted gene therapy for CMT1X.

[Analysis of clinical and novel gene mutations with X-linked Charcot-marie-tooth disease type 1].

Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.

A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.

Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.

Physical exercise halts further functional decline in an animal model for Charcot-Marie-Tooth disease 1X at an advanced disease stage.

Novel Missense Mutation in GJB1 Gene Leading to X-linked Charcot-Marie-Tooth Disease in Young Male: A Case Report.

Optical Genome Mapping Identifies a Second Xq27.1 Rearrangement Associated With Charcot-Marie-Tooth Neuropathy CMTX3.

Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.

Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation.

Islands and Neurology: An Exploration into a Unique Association.

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease.

New perspectives for gene therapy of the X-linked form of Charcot-Marie-Tooth disease.

X-linked Charcot Marie Tooth mutations alter CO2 sensitivity of connexin32 hemichannels.

A case report of peroneal muscle atrophy type 2A2 with central nervous system involvement as initial presentation.

Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.

Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.

Unveiling the clinical and electrophysiological profile of CMTX6: Insights from two Brazilian families.

Corrigendum: Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.

Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.

Pregnancy as trigger of central nervous system dysfunction in type 1 X-linked Charcot-Marie-Tooth disease.

Two new mouse models of Gjb1-associated Charcot-Marie-Tooth disease type 1X.

Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.

Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.

Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series.

Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.

X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report.

Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.

Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system.

A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.

Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease.

Identity-by-descent analysis of CMTX3 links three families through a common founder.

Connexin Mutations and Hereditary Diseases.

Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome.

GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.

Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies.

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.

GJB1 mutations c.212T>G and c.311A>C induce apoptosis and inwardly rectifying potassium current changes in X-linked Charcot-Marie-Tooth type 1.

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease.

Physical exercise mitigates neuropathic changes in an animal model for Charcot-Marie-Tooth disease 1X.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests.

AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy.

Effects of early crush on aging wild type and Connexin 32 knockout mice: Evidence for a neuroprotective state in CMT1X mouse nerve.

AAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1.

Aberrant Splicing in GJB1 and the Relevance of 5' UTR in CMTX1 Pathogenesis.

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.

Transient, Recurrent Central Nervous System Clinical Manifestations of X-Linked Charcot-Marie-Tooth Disease Presenting with Very Long Latency Periods between Episodes: Is Prolonged Sun Exposure a Provoking Factor?

Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

Energy metabolism and mitochondrial defects in X-linked Charcot-Marie-Tooth (CMTX6) iPSC-derived motor neurons with the p.R158H PDK3 mutation.

Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth.

Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.

Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1.

GJB1 Mutation-A Disease Spectrum: Report of Case Series.

Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.

Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease.

A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Atypical Pediatric Demyelinating Diseases of the Central Nervous System.

Schwann Cell and the Pathogenesis of Charcot-Marie-Tooth Disease.

Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.

A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.

New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.

Charcot-Marie-Tooth: From Molecules to Therapy.

Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.

Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family.

X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.

New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms.

Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.

Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study.

Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells.

Strokelike Episodes in a Patient With Chronic Gait Abnormalities.

CNS phenotype in X linked Charcot- Marie-Tooth disease.

Dynamin 2 (DNM2) as Cause of, and Modifier for, Human Neuromuscular Disease.

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32.

X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.

X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.

[Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].

What's the Function of Connexin 32 in the Peripheral Nervous System?

A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4.

The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits.

Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.

Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1.

[Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient].

Reversible lesions of the corpus callosum with initially restricted diffusion in a series of Caucasian children.

Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China.

Unique clinical and neurophysiologic profile of a cohort of children with CMTX3.

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.

Intrathecal gene therapy in mouse models expressing CMT1X mutations.

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice.

X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.

A case with CMTX1 disease showing transient ischemic-attack-like episodes.

Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.

Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome.

Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes.

Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).

Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Golgi-retained Cx32 mutants interfere with gene addition therapy for CMT1X.

Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.

Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo.

Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic.

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.

Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease.

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

Aberrant trafficking of a Leu89Pro connexin32 mutant associated with X-linked dominant Charcot-Marie-Tooth disease.

Novel outcome measures for Charcot-Marie-Tooth disease: validation and reliability of the 6-min walk test and StepWatch(™) Activity Monitor and identification of the walking features related to higher quality of life.

Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.

CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction.

Intrathecal gene therapy rescues a model of demyelinating peripheral neuropathy.

Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1.

X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene.

Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.

X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family.

A Review of X-linked Charcot-Marie-Tooth Disease.

[Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].

Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice.

Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot-Marie-Tooth disease.

A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

Connexin: a potential novel target for protecting the central nervous system?

Association of PRPS1 Mutations with Disease Phenotypes.

Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease.

CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors.

Relapsing remitting multiple sclerosis in x-linked charcot-marie-tooth disease with central nervous system involvement.

Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32.

Episodic neurological dysfunction in hereditary peripheral neuropathy.

CSF-1-activated macrophages are target-directed and essential mediators of Schwann cell dedifferentiation and dysfunction in Cx32-deficient mice.

A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.