Disease: Charcot-Marie-Tooth disease- X-linked- 1
- A case with CMTX1 disease showing transient ischemic-attack-like episodes
- A novel AIFM1 mutation in a Chinese family with X-linked Charcot-Marie-Tooth disease type 4
- A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexes
- A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
- A Novel Variant in Non-coding Region of <em>GJB1</em> Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
- A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
- A Review of X-linked Charcot-Marie-Tooth Disease
- A start codon CMT1X mutation associated with transient encephalomyelitis causes complete loss of Cx32
- AAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1
- AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy
- Aberrant Splicing in <em>GJB1</em> and the Relevance of 5' UTR in CMTX1 Pathogenesis
- Acetylation of C-terminal lysines modulates protein turnover and stability of Connexin-32
- 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
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
- Anaesthesia and orphan diseases: anaesthetic management of a patient with X-linked Charcot-Marie-Tooth disease type 1
- Association of PRPS1 Mutations with Disease Phenotypes
- Axonal excitability in X-linked dominant Charcot Marie Tooth disease
- Central Alteration in Peripheral Neuropathy of Trembler-J Mice: Hippocampal pmp22 Expression and Behavioral Profile in Anxiety Tests
- Centrally involved X-linked Charcot-Marie-Tooth disease presenting as a stroke-mimic
- Charcot-Marie-Tooth Disease 1X Simulating Paraparetic Guillain-Barre Syndrome
- 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
- Charcot-Marie-Tooth disease masquerading as acute demyelinating encephalomyelitis-like illness
- Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report
- Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects
- Clinical and electrophysiological characteristics of women with X-linked 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
- Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness
- CMTX1 patients' cells present genomic instability corrected by CamKII inhibitors
- CNS involvement in CMTX1 caused by a novel connexin 32 mutation: a 6-year follow-up in neuroimaging and nerve conduction
- Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China
- Connexin Mutations and Hereditary Diseases
- Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)
- Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease
- Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease
- 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
- Episodic central nervous system symptoms with reversible white matter involvement in Chinese patients with X-linked Charcot-Marie-Tooth disease and literatures review
- Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease
- Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease
- Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement
- Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies
- Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants
- Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1
- 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
- GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali
- Identity-by-descent analysis of CMTX3 links three families through a common founder
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review
- Intraneural GJB1 gene delivery improves nerve pathology in a model of X-linked Charcot-Marie-Tooth disease
- Intrathecal gene therapy in mouse models expressing CMT1X mutations
- Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies
- Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system
- Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A
- Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease
- Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
- Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman
- Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients
- Mutations in noncoding regions of <em>GJB1</em> are a major cause of X-linked CMT
- Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
- New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease
- Novel familial pathogenic mutation in gap junction protein, beta-1 gene (GJB1) associated with transient neurological deficits in a patient with X-linked Charcot-Marie-Tooth disease
- 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
- Novel mutations in GJB1 trigger intracellular aggregation and stress granule formation in X-linked Charcot-Marie-Tooth Disease
- Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families
- Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study
- Physical exercise mitigates neuropathic changes in an animal model for Charcot-Marie-Tooth disease 1X
- Pregnancy as trigger of central nervous system dysfunction in type 1 X-linked Charcot-Marie-Tooth disease
- Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis
- Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report
- Recurrent Episodes of Stroke-Like Symptoms in a Patient with Charcot-Marie-Tooth Neuropathy X Type 1
- Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1
- Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1
- Role of Connexin-Based Gap Junction Channels in Communication of Myelin Sheath in Schwann Cells
- Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation
- Strokelike Episodes in a Patient With Chronic Gait Abnormalities
- Structural Variation at a Disease Mutation Hotspot: Strategies to Investigate Gene Regulation and the 3D Genome
- Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation
- 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
- Systematic review of CMTX1 patients with episodic neurological dysfunction
- Systemic inflammation disrupts oligodendrocyte gap junctions and induces ER stress in a model of CNS manifestations of X-linked Charcot-Marie-Tooth disease
- Targeting the colony stimulating factor 1 receptor alleviates two forms of Charcot-Marie-Tooth disease in mice
- The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations
- The central nervous system phenotype of X-linked Charcot-Marie-Tooth disease: a transient disorder of children and young adults
- The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy
- Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease
- 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?
- Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report
- Unique clinical and neurophysiologic profile of a cohort of children with CMTX3
- Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3
- Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome
- X-linked Charcot-Marie-Tooth disease after SARS-CoV-2 vaccination mimicked stroke-like episodes: A case report
- X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients
- X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms
- X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness
- X-linked Charcot-Marie-Tooth disease type 6 (CMTX6) patients with a p.R158H mutation in the pyruvate dehydrogenase kinase isoenzyme 3 gene
- X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation
- X-Linked Hereditary Motor Sensory Neuropathy Type 1 (CMTX1) in a Three-Generation Gelao Chinese Family