- Perceived Barriers, Enablers and Modifications to Tests Assessing Pediatric Lower Limb Neurological Impairment: An International Delphi Survey.
- Magnetic resonance neurography in diagnosing childhood chronic inflammatory demyelinating polyradiculoneuropathy.
- Cutaneous and muscular afferents from the foot and sensory fusion processing: physiology and pathology in neuropathies.
- A comprehensive review of the treatment and management of Charcot spine.
- Location matters – Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.
- [Cavovarus foot].
- Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy.
- Follow-up and Outcome of Operative Treatment With Decompressive Release Of The Peroneal Nerve
- Nonenhancing thickened cranial nerves on MRI in Charcot-Marie-Thooth disease.
- Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease.
- New Evidence for Secondary Axonal Degeneration in Demyelinating Neuropathies.
- Aquaporin-4-antibody-positive Neuromyelitis Optica Spectrum Disorder in a Patient with Charcot-Marie-Tooth Disease Type 1A.
- [Clinical outcome of tibiotalocalcaneal fusion using cannulated screw and humeral proximal locking plate inverted fixation through a lateral transfibular approach].
- Distal hereditary motor neuropathies: mutation spectrum and genotype-phenotype correlation.
- Ketofol Versus Fenofol as Procedural Sedation for Carpal Tunnel Release
- Effect of Ultrasound-guided Piriformis Muscle Corticosteroid Injection Versus Extracorporeal Shock Wave Therapy for Piriformis Syndrome: a Randomized Control Trial
- One Multilocus Genomic Variation Is Responsible for a Severe Charcot-Marie-Tooth Axonal Form.
- Impaired NDRG1 functions in Schwann cells cause demyelinating neuropathy in a dog model of Charcot-Marie-Tooth type 4D.
- Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.
- Effectiveness of a Tele-Rehabilitation Evidence-based Tablet App for Rehabilitation in Traumatic Bone and Soft Injuries of the Hand, Wrist and Fingers.
- Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
- Systematic review of CMTX1 patients with episodic neurological dysfunction.
- Crystal and solution structure of NDRG1, a membrane-binding protein linked to myelination and tumour suppression.
- Promoting Healing Of Nerves Through Electrical Stimulation
- Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
- Presence of the Arcade of Struthers on Preoperative Ultrasound
- Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival.
- Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease.
- Randomized Trial of Supercharged End-to-Side Anterior Interosseous Nerve Transfer for Severe Cubital Tunnel Syndrome
- Genetic mechanisms of peripheral nerve disease.
- Multiple cranial nerve enlargement in Charcot-Marie-Tooth disease.
- Development and Validation of the Pediatric CMT Quality of Life Outcome Measure.
- Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
- The prevalence of hereditary neuromuscular disorders in Northern Norway.
- Clinical and molecular evidence of possible digenic inheritance for MFN2/GDAP1 genes in Charcot-Marie-Tooth disease.
- Combined Genome Sequencing and RNA Analysis Reveals and Characterizes a Deep Intronic Variant in IGHMBP2 in a Patient With Spinal Muscular Atrophy With Respiratory Distress Type 1.
- Charcot-Marie-Tooth 4C and bilateral spinal dissection: Causal or coincidental relationship?
- [Identification of a novel c.1A>G variant of GDAP1 gene in a pedigree affected with autosomal recessive fibula atrophy].
- Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
- Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2.
- Lower Extremity Lymphatic Function in Nonambulatory Patients with Neuromuscular Disease.
- Electrophysiological Changes Based on the Palmaris Longus
- The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
- Patient compliance with orthotic use- can we do better? An editorial for Zuccarino et al. “Satisfaction with Ankle Foot Orthoses in Individuals with Charcot-Marie-Tooth”.
- Validation of a new hand function outcome measure in individuals with Charcot-Marie-Tooth disease.
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis.
- Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.
- Editorial for “Microstructural Integrity of Peripheral Nerves in Charcot-Marie-Tooth (CMT) Disease: An MRI Evaluation Study”.
- Texture analysis using T1-weighted images for muscles in Charcot-Marie-Tooth disease patients and volunteers.
- Enlarged Brachial Plexus Nerve Found During Ultrasound-Guided Peripheral Nerve Block Diagnosed as Charcot-Marie-Tooth Disease: A Case Report.
- A Database of Caenorhabditis elegans Locomotion and Body Posture Phenotypes for the Peripheral Neuropathy Model.
- Isolated Asymmetric Progressive Optic Neuropathy as a First Presentation of Charcot-Marie-Tooth Disease Type 2A.
- Myelination of peripheral nerves is controlled by PI4KB through regulation of Schwann cell Golgi function.
- Fibulin 5, a human Wharton’s jelly-derived mesenchymal stem cells-secreted paracrine factor, attenuates peripheral nervous system myelination defects through the Integrin-RAC1 signaling axis.
- Sacroiliac Joint Manipulation Effect in Chronic Piriformis Syndrome.
- Efficacy of Electroacupuncture in Carpal Tunnel Syndrome
- CMT4J, parkinsonism and a new FIG4 mutation.
- StatPearls
- Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study.
- Charcot-Marie-Tooth Disease Type 4J with spastic quadriplegia, epilepsy and global developmental delay: A tale of three siblings.
- Central nervous system impairment detected by somatosensory evoked potentials in patients with Charcot-Marie-Tooth disease type 1A.
- Teaching NeuroImages: Hypertrophic polyneuropathy.
- A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
- People with Charcot-Marie-Tooth disease and COVID-19: impaired physical conditions due to the lockdown. An International cross-sectional survey.
- Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy.
- CIDP, CMT1B, or CMT1B plus CIDP?
- Graston vs Manual Myofascial Release Technique in Piriformis Syndrome.
- Severe bone microarchitecture deterioration in a family with hereditary neuropathy: evidence of the key role of the mechanostat.
- The Noninvasive Diagnostic Value of MRN for CIDP: A Research from Qualitative to Quantitative.
- Brain Plasticity in Charcot-Marie-Tooth Type 1A Patients? A Combined Structural and Diffusion MRI Study.
- Charcot-Marie-Tooth Disease and Other Hereditary Neuropathies.
- Cavitating leukodystrophy as a manifestation of cerebral involvement in MFN2 neuropathy.
- A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene.
- Linker region is required for efficient nuclear localization of polynucleotide kinase phosphatase.
- StatPearls
- Charcot-Marie-Tooth disease Type 1A: Longitudinal change in nerve ultrasound parameters.
- Diffuse brain connectivity changes in Charcot-Marie-tooth type 1A patients: A resting-state functional MRI study.
- Genetic profile of Chinese patients with Charcot-Marie-Tooth disease.
- De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
- Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease.
- Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry.
- Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies.
- The Ubiquitin Proteasome System in Neuromuscular Disorders: Moving Beyond Movement.
- Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.
- A Novel Duplication Mutation in the Myelin Protein Zero Gene Causing Mild, Nonprogressive Demyelinating Neuropathy.
- Vestibular impairment in Charcot-Marie-Tooth disease.
- A family with adult-onset myofibrillar myopathy with BAG3 mutation (P470S) presenting with axonal polyneuropathy.
- Presence of colocalised phosphorylated TDP-43 and TFG proteins in the frontotemporal lobes of HMSN-P.
- Reliability of the Charcot-Marie-Tooth functional outcome measure.
- Midazolam Versus Dexamethasone as an Adjuvant to Local Anesthetics in the Ultrasound Guided Hydrodissection of Median Nerve for Treatment of Carpal Tunnel Syndrome Patients
- Acute and chronic neuropathies.
- Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease.
- Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.
- Translation and cross-cultural adaptation of the Charcot-Marie-Tooth disease Pediatric Scale to Brazilian Portuguese and determination of its measurement properties.
- Myelination and node of Ranvier formation in a human motoneuron – Schwann cell serum-free co-culture.
- Correction: Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
- Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a ‘treatabolome’.
- Rate of Changes in CMT Neuropathy and Examination Scores in Japanese Adult CMT1A Patients.
- Assessing non-Mendelian inheritance in inherited axonopathies.
- Long-term outcome of Miniature Schnauzers with genetically confirmed demyelinating polyneuropathy: 12 cases.
- Mitofusin 2 Dysfunction and Disease in Mice and Men.
- Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients With Charcot-Marie-Tooth Disease.
- A Mitochondrial tRNA Mutation Causes Axonal CMT in a Large Venezuelan Family.
- Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies.
- Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy.
- Satisfaction with Ankle Foot Orthoses in Individuals with Charcot-Marie-Tooth.
- De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
- A Rare Case of Charcot-Marie-Tooth Disease Type 1C With an Unusual Presentation.
- Long-term walking ability and patient satisfaction after lower limb functional surgery in patients affected by charcot-marie-tooth disease. A retrospective study.
- Circulating microRNAs Profile in Patients With Transthyretin Variant Amyloidosis.
- DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.
- Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
- Paternal gender specificity and mild phenotypes in Charcot-Marie-Tooth type 1A patients with de novo 17p12 rearrangements.
- StatPearls
- Lessons from late onset Charcot-Marie-Tooth disease.
- COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study
- Inhibition and Crystal Structure of the Human DHTKD1-Thiamin Diphosphate Complex.
- C1orf194 deficiency leads to incomplete early embryonic lethality and dominant intermediate Charcot-Marie-Tooth disease in a knockout mouse model.
- Vagus Nerve Ultrasound in Chronic Inflammatory Demyelinating Polyradiculoneuropathy and Charcot-Marie-Tooth Disease Type 1A.
- Confounding clinical presentation and different disease progression in CMT4B1.
- A video protocol for rapid dissection of mouse dorsal root ganglia from defined spinal levels.
- A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases.
- Telocytes in the Normal and Pathological Peripheral Nervous System.
- Non-invasive prenatal testing leading to a maternal diagnosis of Charcot-Marie-Tooth neuropathy.
- Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.
- Early-onset cerebellar ataxia in a patient with CMT2A2.
- Electrodiagnostic accuracy in polyneuropathies: supervised learning algorithms as a tool for practitioners.
- Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
- Massage therapy treatment and outcomes in a patient with Charcot-Marie-Tooth disease: A case report.
- An adapted dance program for children with Charcot-Marie-Tooth disease: An exploratory study.
- Pes cavovarus in Charcot-Marie-Tooth compared to the idiopathic cavovarus foot: A preliminary weightbearing CT analysis.
- Validation of the Italian version of the Charcot-Marie-Tooth Health Index (CMT-HI).
- Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair.
- StatPearls
- Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
- 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.
- A MT-ATP6 Mutation Causes a Slowly Progressive Myeloneuropathy.
- A Consensus Statement on the Surgical Treatment of Charcot-Marie-Tooth Disease.
- Psychoacoustics and neurophysiological auditory processing in patients with Charcot-Marie-Tooth disease types 1A and 2A.
- BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes.
- A 71-nucleotide deletion in the periaxin gene in an Italian patient with late-onset slowly progressive demyelinating CMT.
- The formin INF2 in disease: progress from 10 years of research.
- BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
- A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.
- Optic Neuropathy in Charcot-Marie-Tooth Disease.
- From the Archives Muscular atrophy, after measles, in three members of a family. By J.A. Ormerod, M.D. Brain (October) 1884; 7 (part XXVII): 334-342; with The peroneal type of progressive muscular atrophy. By Howard H. Tooth, M.A, M.D., M.R.C.P (H.K Lewis, London). 1886; pages 44: with Critical Digests. Recent observations on progressive muscular atrophy. By H. H. Tooth, M.D. Brain (July) 1887; 10 (part XXXVIII): 243-253; with The peroneal form or leg-type of progressive muscular atrophy. By B. Sachs, M.D. (New York). Professor of Mental and Nervous Diseases in the New York Polyclinic, Brain 1890; 12: 447-459.
- A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
- Living with a disability during the pandemic. “Instant paper from the field” on rehabilitation answers to the COVID-19 emergency.
- Graston Technique in Deep Gluteal Syndrome
- Pregnancy outcome in Charcot-Marie-Tooth disease: results of the CMT-NET cohort study in Germany.
- Validation of the Italian Version of the Charcot-Marie-Tooth disease Pediatric Scale.
- Quantitative assessment of sciatic nerve changes in CMT1A patients using magnetic resonance neurography.
- Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.
- Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients.
- Homozygous splice-site mutation c.78 + 5G>A in PMP22 causes congenital hypomyelinating neuropathy.
- Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism: a rare opportunity for treatment of CMT
- Quality of life in hereditary neuropathy with liability to pressure palsies is as impaired as in Charcot-Marie-Tooth disease type 1A.
- [Research advance of underlying pathogenesis and target therapies in Charcot-Marie-Tooth disease type 1A].
- Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome.
- Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series.
- The Undiagnosed Patient in Christina’s World.
- CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
- The suspected SARS-Cov-2 infection in a Charcot-Marie-Tooth patient undergoing postsurgical rehabilitation: the value of telerehabilitation for evaluation and continuing treatment.
- Phenotypic correlations in a large single center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle MRI study.
- Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
- StatPearls
- Mutations in HspB1 and hereditary neuropathies.
- Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
- Disruption of genes associated with Charcot-Marie-Tooth type 2 lead to common behavioural, cellular and molecular defects in Caenorhabditis elegans.
- Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration
- Self-reported physical activity in people with limb-girdle muscular dystrophy and Charcot-Marie-Tooth disease in Norway.
- Alteration of the late endocytic pathway in Charcot-Marie-Tooth type 2B disease.
- Closed arthrodesis in infected neuropathic ankles using Ilizarov ring fixation.
- EARLY ONSET DEMYELINATING CHARCOT-MARIE-TOOTH DISEASE CAUSED BY A NOVEL IN-FRAME ISOLEUCINE DELETION IN PERIPHERAL MYELIN PROTEIN 2.
- Structural and functional divergence of GDAP1 from the glutathione S-transferase superfamily.
- Cryo-EM, X-ray diffraction, and atomistic simulations reveal determinants for the formation of a supramolecular myelin-like proteolipid lattice.
- FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
- Investigation of Mutations in Exon 14 of SH3TC2 Gene and Exon 7 of NDRG1 Gene in Iranian Charcot-Marie-Tooth Disease Type 4 (CMT4D) Patients.
- Segmental Nerve Enlargement in CMT4J.
- The MICOS complex, a structural element of mitochondria with versatile functions.
- [Hereditary Polyneuropathies].
- Charcot neuroarthropathy of the knee due to idiopathic sensory peripheral neuropathy.
- Neurophysiologic intraoperative monitoring (NIOM) in pediatric patients with polyneuropathy.
- A recessive Trim2 mutation causes an axonal neuropathy in mice.
- Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B.
- Acquired Expression of Mutant Mitofusin 2 Causes Progressive Neurodegeneration and Abnormal Behavior.
- Pathogenic Effect of GDAP1 Gene Mutations in a Yeast Model.
- GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
- CMT2Q-causing mutation in the Dhtkd1 gene lead to sensory defects, mitochondrial accumulation and altered metabolism in a knock-in mouse model.
- Upregulation of large myelin protein zero leads to Charcot-Marie-Tooth disease-like neuropathy in mice.
- Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.
- Neuron-specific knockdown of solute carrier protein SLC25A46a induces locomotive defects, an abnormal neuron terminal morphology, learning disability, and shortened lifespan.
- Prevalence and significance of cranial nerve imaging abnormalities in patients with hereditary neuropathies: Clinical implications at the skull base.
- Mice carrying an analogous heterozygous Dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy.
- Proteome profile of peripheral myelin in healthy mice and in a neuropathy model.
- Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.
- Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.
- Clinical features of inherited neuropathy with BSCL2 mutations in Japan.
- Multidimensional evaluation is necessary to assess hand function in patients with Charcot-Marie-Tooth disease type 1A.
- CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity.
- Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
- Inherited motor-sensory neuropathy with upper limb predominance associated with the tropomyosin-receptor kinase fused gene.
- Loss-of-function of EBP50 is a new cause of hereditary peripheral neuropathy: EBP50 functions in peripheral nerve system.
- Genotype-phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome.
- Strokelike Episodes in a Patient With Chronic Gait Abnormalities.
- Comparison of gait patterns and functional measures between Charcot-Marie-Tooth disease type I and II in children to young adults.
- The clinical spectrum of BICD2 mutations.
- A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
- Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1.
- Ring-shaped subpulmonic infundibular membrane diagnosed in an adult affected by type II Charcot-Marie-Tooth disease.
- The properties of human Schwann cells: Lessons from in vitro culture and transplantation studies.
- Neuromuscular Mimics of Entrapment Neuropathies of Upper Extremities.
- GJB1 Mutation-A Disease Spectrum: Report of Case Series.
- Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy.
- Neurological safety of oxaliplatin in patients with uncommon variants in Charcot-Marie-tooth disease genes.
- Prevalence, Mortality, and Cause of Death in Charcot-Marie-Tooth Disease in Korea: A Nationwide, Population-Based Study.
- Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
- Fat fraction distribution in lower limb muscles of patients with CMT1A: A quantitative MRI study.
- Extensor Tendon Transfers for Treatment of Foot Drop in Charcot-Marie-Tooth Disease: A Biomechanical Evaluation.
- Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: when an acute event unmasks a chronic condition.
- Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.
- 7T magnetic resonance neurography-ultrasound fusion for peripheral nerve imaging.
- Identification of TYW3/CRYZ and FGD4 as susceptibility genes for amyotrophic lateral sclerosis.
- Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.
- BAG3 p.Pro209Ser mutation identified in a Chinese family with Charcot-Marie-Tooth disease.
- Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
- HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
- Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.
- Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
- Living With Charcot-Marie-Tooth, Charlie, and Change.
- An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
- Urodynamic findings in Charcot-Marie-Tooth patients with lower urinary tract symptoms.
- Atypical Pediatric Demyelinating Diseases of the Central Nervous System.
- Eye movements in demyelinating, autoimmune and metabolic disorders.
- Structures and Molecular Composition of Schmidt-Lanterman Incisures.
- Mitochondrial impairment activates the Wallerian pathway through depletion of NMNAT2 leading to SARM1-dependent axon degeneration.
- Plasticity in salt bridge allows fusion-competent ubiquitylation of mitofusins and Cdc48 recognition.
- Charcot-Marie-Tooth Disease Type 4J and Multiple Sclerosis.
- Analysis of spinal muscular atrophy-like patients by targeted resequencing.
- Neuropathic pain in patients with Charcot-Marie-Tooth type 1A.
- Human tridimensional neuronal cultures for phenotypic drug screening in inherited peripheral neuropathies.
- Identification of CR43467 encoding a long non-coding RNA as a novel genetic interactant with dFIG4, a CMT-causing gene.
- Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation.
- Insights Into The Pathogenesis Of Atp1a1-Related Cmt Disease Using Patient-Specific Ipscs.
- Peripheral nerve magnetic resonance imaging.
- Patient-Ventilator Asynchronies during Polysomnography.
- A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.
- Insights into wild type dynamin 2 and the consequences of DNM2 mutations from transgenic zebrafish.
- Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
- Posturography-Neuropathy
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
- The first biallelic missense mutation in the FXN gene in a consanguineous Turkish family with Charcot-Marie-Tooth-like phenotype.
- Soft tissue release combined with joint-sparing osteotomy for treatment of cavovarus foot deformity in older children: Analysis of 21 cases.
- Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
- Gabrielle Lévy and the Roussy-Lévy syndrome.
- Severe cognitive impairment in a patient with CMT2A.
- Sural nerve biopsy in peripheral neuropathies: 30-year experience from a single center.
- Onion-bulb patterns predict acquired or inherited demyelinating polyneuropathy.
- The Charcot-Marie Tooth Disease Mutation R94Q in MFN2 Decreases ATP Production but Increases Mitochondrial Respiration under Conditions of Mild Oxidative Stress.
- Unfolded protein response in myelin disorders.
- Human HSPB1 mutation recapitulates features of distal hereditary motor neuropathy (dHMN) in Drosophila.
- Anesthesia in a patient with Charcot-Marie-Tooth disease with pneumothorax: a case report.
- Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
- Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.
- A recurrent GARS mutation causes distal hereditary motor neuropathy.
- Widening the phenotypical spectrum of EGR2-related CMT: Unusual phenotype for R409W mutation.
- Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway.
- Longitudinal 16-year study of dominant intermediate CMT type C neuropathy.
- Defects in Axonal Transport in Inherited Neuropathies.
- Magnetic resonance imaging neurography depicting radiological anticipation in a family with PMP22 duplication.
- A Case Report on Charcot-Marie-Tooth Disease with a Novel Periaxin Gene Mutation.
- Clinical spectrum of AIFM1-associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness.
- [Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy].
- Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system.
- Cost of illness in Charcot-Marie-Tooth neuropathy: Results from Germany.
- Quantification of Mitochondrial Network Characteristics in Health and Disease.
- Novel MFN2 Missense Mutation Induces Hereditary Axonal Motor and Sensory Neuropathy in a Saudi Arabian Family.
- Respiratory System, Sleep Quality, Restless Leg Syndrome, and Depression-Anxiety Assessment in Charcot Marie Tooth Disease.
- Treadmill training in people affected by Charcot-Marie-Tooth (CMT) neuropathy: results of a multicenter, prospective, randomized, single blind, controlled study.
- Clinical Reasoning: Pes cavus and neuropathy: Think beyond Charcot-Marie-Tooth disease.
- Mice with an autosomal dominant Charcot-Marie-Tooth type 2O disease mutation in both dynein alleles display severe moto-sensory phenotypes.
- Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
- The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.
- Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2.
- Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype.
- The expanding spectrum of neurological disorders of phosphoinositide metabolism.
- Old but Gold: Tracking the New Guise of Histone Deacetylase 6 (HDAC6) Enzyme as a Biomarker and Therapeutic Target in Rare Diseases.
- CNTNAP1 Mutations in an Adult with Charcot Marie Tooth Disease.
- Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
- Phrenic nerve involvement and respiratory muscle weakness in patients with Charcot-Marie-Tooth disease 1A.
- A neutral lipid-enriched diet improves myelination and alleviates peripheral nerve pathology in neuropathic mice
- Acute neurotoxicity following vincristine due to Charcot-Marie-Tooth disease in a young child with medulloblastoma.
- Knowing When to Let Go: Lysosomes Regulate Inter-Mitochondrial Tethering.
- Intraobserver and interobserver reliability of cone beam weightbearing semi-automatic three-dimensional measurements in symptomatic pes cavovarus.
- Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
- How secret conversations inside cells are transforming biology.
- A Chinese pedigree with a novel mutation in GJB1 gene and a rare variation in DHTKD1 gene for diverse Charcot‑Marie‑Tooth diseases.
- A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.
- The cerebellar phenotype of Charcot-Marie-Tooth neuropathy type 4C.
- Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
- New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
- Membrane metallo-endopeptidase is dispensable for repair after nerve injury.
- Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
- The audiologic profile of patients with Charcot-Marie Tooth neuropathy can be characterised by both cochlear and neural deficits.
- [A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease].
- Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
- Clinical neurophysiology of demyelinating polyneuropathy.
- Hidden Charcot-Marie-Tooth 1A as Revealed by Peripheral Nerve Imaging.
- Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype.
- Affected Children of Healthy Parents: Multiple Pediatric Cases of Autosomal Recessive Charcot-Marie-Tooth Disease in a Pakistani Family.
- Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature.
- Tracking Pain in Resting State Networks in Patients with Hereditary and Diabetic Neuropathy.
- Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy.
- X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.
- Disorders of mitochondrial dynamics in peripheral neuropathy: Clues from hereditary neuropathy and diabetes.
- Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.
- A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.
- Combined Phenotypes of Spondylometaphyseal Dysplasia-Kozlowski Type and Charcot-Marie-Tooth Disease Type 2C Secondary to a TRPV4 Pathogenic Variant.
- Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.
- Data on the effects of Charcot-Marie-Tooth disease type 2N-associated AARS missense mutation (Arg329-to-His) on the cell biological properties.
- Physical activity of children and adolescents with Charcot-Marie-Tooth neuropathies: A cross-sectional case-controlled study.
- Novel GDAP1 Mutation in a Vietnamese Family with Charcot-Marie-Tooth Disease.
- A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease.
- Neuropathy-related mutations alter the membrane binding properties of the human myelin protein P0 cytoplasmic tail.
- Development of an Ankle-Foot Orthosis That Provides Support for Flaccid Paretic Plantarflexor and Dorsiflexor Muscles.
- A very mild phenotype of Charcot-Marie-Tooth disease type 4H caused by two novel mutations in FGD4.
- PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability.
- Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).
- New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
- DNA repair deficiency in neuropathogenesis: when all roads lead to mitochondria.
- Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation.
- Assessing Long Term Safety and Tolerability of PXT3003 in Patients With Charcot-Marie-Tooth Disease Type 1A
- SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
- Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients (PLEO-CMT)
- Intrathecal Administration of scAAV9/JeT-GAN for the Treatment of Giant Axonal Neuropathy
- MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
- Use of Compression Glove to Prevent Complications After Distal Radius Fractures: a Randomized Controlled Trial
- Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid