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.

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

[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.

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].

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

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

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

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

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

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.

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.

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

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.

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.

Connexin Mutations and Hereditary Diseases.

A Novel PRPS1 Mutation in a Japanese Patient with CMTX5.

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

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

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.

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?

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.

Atypical Pediatric Demyelinating Diseases of the Central Nervous System.

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.

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

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.

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

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.

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.

Intrathecal gene therapy in mouse models expressing CMT1X mutations.

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.

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.

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

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

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

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

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.

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.

A Review of X-linked 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?

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

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

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

Episodic neurological dysfunction in hereditary peripheral neuropathy.

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