Disease: Roussy Levy hereditary areflexic dystasia
- <em>PRPS1</em>-associated retinopathy: a diagnostic odyssey
- A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing
- A missense mutation in human INSC causes peripheral neuropathy
- A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants
- A novel variant in the GNE gene in a Malian patient presenting with distal myopathy
- A Patient With Charcot-Marie-Tooth Disease Type 4C (CMT4C) Presenting With Muscle Fasciculations and Motor Neuropathy
- A previously unreported NARS1 variant causes dominant distal hereditary motor neuropathy in a French family
- A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity
- A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot-Marie-Tooth neuropathy 1A
- Acute neurologic deterioration in a patient with asymptomatic Charcot-Marie-Tooth disease following three doses of Brentuximab-Vedotin
- An 8-month adapted motor activity program in a young CMT1A male patient
- An immuno-DOT diagnostic assay for autoimmune nodopathy
- Antisense oligonucleotide shows potential in Charcot-Marie-Tooth disease
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Masquerading as Charcot-Marie-Tooth (CMT) Disease: A Case Study and Literature Review of Korean Patients
- Biallelic variants in <em>COX18</em> cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
- Bilateral hearing impairment as an early symptom in a patient with Charcot-Marie-Tooth Type 1: the first case report from Syria
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy
- Case report: Chronic inflammatory demyelinating polyneuropathy superimposed on Charcot-Marie-tooth type 1A disease after SARS-CoV-2 vaccination and COVID-19 infection
- Charcot-Marie-Tooth Disease and Hearing Loss: A Systematic Review With Meta-Analysis
- Charcot-Marie-Tooth Disease With Leukodystrophy: An Atypical Presentation
- Charcot-Marie-Tooth type 2A in vivo models: Current updates
- Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J
- Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1
- Cochlear implantation in patients with Charcot-Marie-Tooth disease: two cases with a review of the literature
- Combined clinical, structural, and cellular studies discriminate pathogenic and benign TRPV4 variants
- Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity
- Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A
- Correction to: C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model
- CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants
- Customized antisense oligonucleotide-based therapy for neurofilament-associated Charcot-Marie-Tooth disease
- Diagnostic neuromuscular ultrasound to confirm clinical significance of a genetic variant for Charcot-Marie-Tooth type 4C: A case report
- Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy
- Disease Mechanisms and Therapeutic Approaches in SMARD1-Insights from Animal Models and Cell Models
- Disruption of Neuromuscular Junction Following Spinal Cord Injury and Motor Neuron Diseases
- Distal hereditary motor neuropathies
- Does photobiomodulation alter mitochondrial dynamics?
- Dominant Mutation in ITPR3 Gene Causing Charcot-Marie-Tooth Disease 1J in a Family from India
- Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases
- Drosophila models used to simulate human ATP1A1 gene mutations that cause Charcot-Marie-Tooth type 2 disease and refractory seizures
- Electrophysiological and radiological diagnosis of hereditary motor and sensory polyneuropathy
- Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease
- Foot surgery for adults with Charcot-Marie-Tooth disease
- Forefoot Morphotypes in Cavovarus Feet: A Novel Assessment of Deformity
- Gene therapies for CMT neuropathies: from the bench to the clinic
- Generation of one induced pluripotent stem cell line JUCGRMi004-A from a Charcot-Marie-Tooth disease type 1A (CMT1A) patient with PMP22 duplication
- Genetic analysis of a Chinese pedigree affected with atypical Charcot-Marie-Tooth disease type 1A due to duplication of PMP22 gene
- Genetic and clinical profile of 15 Chinese families with GDAP1-related Charcot-Marie-Tooth disease and identification of H256R as a frequent mutation
- Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease
- Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards
- Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China
- HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family
- Hyaluronic Acid-based Fillers for Facial Rehabilitation in Inherited Neuropath
- Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1
- Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A
- INF2 formin variants linked to human inherited kidney disease reprogram the transcriptome, causing mitotic chaos and cell death
- Insights into phenotypic variability caused by GARS1 pathogenic variants
- Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
- Is a Plantarflexed First Ray the Primary Deformity In Children With Cavovarus Feet Secondary to Charcot-Marie-Tooth Disease? A Pedobarographic Analysis
- Is a Three-component Video-based Version of the Foot Posture Index Valid for Assessing Pediatric Patients With Orthopaedic and Neurologic Foot Conditions?
- Islands and Neurology: An Exploration into a Unique Association
- Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D
- Meary's angle decoded: 3D analysis of first ray plantarflexion deformity in Charcot-marie-tooth disease
- MFN2 coordinates mitochondria motility with α-tubulin acetylation and this regulation is disrupted in CMT2A
- Mfn2(R364W), Mfn2(G176S), and Mfn2(H165R) mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage
- Missense Mutant Gain-of-Function Causes Inverted Formin 2 (INF2)-Related Focal Segmental Glomerulosclerosis (FSGS)
- Neddylation orchestrates the complex transcriptional and posttranscriptional program that drives Schwann cell myelination
- Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
- Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes
- One-Year Longitudinal Assessment of Patients With CMT1A Using Quantitative MRI
- p62/sequestosome-1 as a severity-reflecting plasma biomarker in Charcot-Marie-Tooth disease type 1A
- Phenotypic spectrum of myelin protein zero-related neuropathies: a large cohort study from five mutation clusters across Italy
- PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells
- Prolonged Duration of Peripheral Nerve Blockade in a Pediatric Patient with Charcot Marie Tooth Disease: A Case Report
- Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A
- Quantitative proteomics unveils known and previously unrecognized alterations in neuropathic nerves
- Remediation of Perceptual Deficits in Progressive Auditory Neuropathy: A Case Study
- Research Toward Understanding the Benefits and Limitations of Orthotic Use To Improve Mobility and Balance for Individuals With Neuropathic Conditions
- Research Trends in the Comorbidity Between Periodontitis and Neurodegenerative Diseases
- Roles for PMP22 in Schwann cell cholesterol homeostasis in health and disease
- Rotating Hinge Knee Arthroplasty for Charcot Joints of the Knees in Patients With Charcot-Marie-Tooth Disease: A Report of Two Cases
- RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity
- SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights
- SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause
- Spatial selectivity of ATase inhibition in mouse models of Charcot-Marie-Tooth disease
- Telecoaching: a potential new training model for Charcot-Marie-Tooth patients: a systematic review
- The cytoplasmic tail of myelin protein zero induces morphological changes in lipid membranes
- The evolving spectrum of complex inherited neuropathies
- 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
- The molecular mechanisms that underlie IGHMBP2-related diseases
- The validity of cardiopulmonary exercise testing for assessing aerobic capacity in neuromuscular diseases
- TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations
- Unveiling a Rare Coexistence: Duchenne Muscular Dystrophy with Charcot-Marie-Tooth Disease Type 1A Presentation
- Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT
- Use of NaF and FDG PET/CT Scan for the Assessment of Charcot Joint in Charcot-Marie-Tooth Disease: All That Glitters is Gold?
- Use of transcranial motor evoked potentials (TcMEPs) in spine deformity surgery in a case of Charcot-Marie-tooth disease-what we should know? A case report
- Utilization of orthoses and assistive devices among a national sample of lower limb orthosis users
- Validity of Cardiopulmonary Exercise Testing for Assessing Aerobic Capacity in Neuromuscular Diseases
- Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies
- Will new investigational drugs change the way we treat Charcot-Marie-Tooth disease?