Keywords: 6MWD; six-minute walk distance; 6MWT; six-minute walk test; BMI; body mass index; BOS; base of support width; BOT; Bruininks-Oseretsky Test of Motor Proficiency; CMT; Charcot-Marie-Tooth disease; CMTPedS; Charcot-Marie-Tooth Pediatric Scale; DS%GC; double
مقالات ISI (ترجمه نشده)
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Keywords: Optic nerve; Second cranial nerve; Optic neuropathy; mtDNA; Oxidative phosphorylation; Mitochondrial; Respiratory chain; ADOA; Autosomal dominant optic atrophy; AION; Anterior ischemic optic neuropathy; AROA; Autosomal recessive optic atrophy; ATP; Adenos
Keywords: Factor analysis; Neuromuscular diseases; Outcome measure; Psychometrics; CMT; Charcot-Marie-Tooth disease; CFA; confirmatory factor analysis; D1; standing position and transfers; D2; axial and proximal motor function; D3; distal motor function; DM1; myoto
Keywords: Charcot-Marie-Tooth disease; Axonopathy; Intracellular trafficking; Dying-back neuropathy; Chemotherapy; Diabetes; Histone deacetylase 6; Mitochondria;
Keywords: Charcot-Marie-Tooth disease; Hereditary sensory and autonomic neuropathy; Distal hereditary motor neuropathy; Transthyretin amyloid neuropathy;
Keywords: Pie neurológico; Enfermedad de Charcot-Marie-Tooth; Pie cavo; Pie de Charcot; Pie equino; Neurological foot; Charcot-Marie-Tooth disease; Cavus foot; Charcot foot; Equine foot;
Keywords: Charcot-Marie-Tooth disease; Dynamin; Actin; Stress fiber; Endocytosis;
Keywords: Cavus foot; Cavovarus foot; Charcot-Marie-Tooth disease; “Peek-a-boo” sign; Coleman block testing; Meary's angle; Triple arthrodesis;
Keywords: Charcot-Marie-Tooth disease; Hereditary motor and sensory neuropathy; Hand strength; Manual dexterity; Sensory function
Keywords: Manual ability; Charcot-Marie-Tooth disease; Manual ability measure; Outcome measure
Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease
Keywords: Neuropathy; Charcot-Marie-Tooth Disease; Postural balance; Disability;
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Keywords: Charcot-Marie-Tooth disease; ABHD12 gene; PHARC; Deaf-blindness; Usher syndrome;
A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype
Keywords: Charcot-Marie-Tooth; CMT2; Mitofusin 2; MFN2; Neuropathy; Homozygous mutation; CMT; Charcot-Marie-Tooth disease; CMT2A; Charcot-Marie-Tooth type 2A; MFN2; mitofusin 2; NCV; nerve conduction velocity; EMG; electromyography; CMAP; compound motor action pote
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation
Keywords: Sacsinopathy; Hereditary neuropathy; Charcot-Marie-Tooth disease; Axonal neuropathy;
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients
Keywords: Charcot-Marie-Tooth disease; CMT; Epidemiology; Hereditary neuropathy; Associated features;
Case reportDeletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease
Keywords: Charcot-Marie-Tooth disease; X-linked; GJB1; Connexin 32; Deletion; P2 promoter; Schwann cell dysfunction;
Pmp22 mutant allele-specific siRNA alleviates demyelinating neuropathic phenotype in vivo
Keywords: CMT; Charcot-Marie-Tooth disease; siRNA; small interfering RNA; PMP22; peripheral myelin protein 22Â kD; MBP; myelin basic protein; MPZ; myelin protein zero; IPN; Inherited peripheral neuropathy; HMSN; hereditary motor and sensory neuropathy; HNPP; heredi
Gait patterns of children and adolescents with Charcot-Marie-Tooth disease
Keywords: Gait analysis; Paediatric; Charcot-Marie-Tooth disease; Clinical motion analysis; Gait patterns;
Abl2 kinase phosphorylates Bi-organellar regulator MNRR1 in mitochondria, stimulating respiration
Keywords: COX; cytochrome c oxidase; COX4I2; cytochrome c oxidase subunit 4 isoform 2; MEF; mouse embryonic fibroblast; MNRR1; Mitochondrial Nuclear Retrograde Regulator 1; CMT; Charcot-Marie-Tooth disease; ORE; oxygen responsive element; RBPJκ; Recombination Sign
An oral NaV1.8 blocker improves motor function in mice completely deficient of myelin protein P0
Keywords: Voltage-gated sodium channels; Charcot-Marie-Tooth disease; Nerve excitability; Myelin protein P0; Conduction failure;
Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C
Keywords: Charcot-Marie-Tooth disease; Schwann cells; Peripheral neuropathy;
Zebrafish Tg(hb9:MTS-Kaede): a new in vivo tool for studying the axonal movement of mitochondria
Keywords: Zebrafish; Mitochondrial dynamics; Charcot-Marie-Tooth disease; Motor neuron;
The shifting paradigm of Charcot-Marie-Tooth disease
Keywords: Charcot-Marie-Tooth disease; Hereditary polyneuropathy; Maladie de Charcot-Marie-Tooth; Polyneuropathie héréditaire; AD; autosomal dominant; AR; autosomal recessive; CMT; Charcot-Marie-Tooth disease; CMT1; autosomal dominant demyelinating CMT; CMT2; aut
Pediatric Charcot-Marie-Tooth Disease
Keywords: Charcot-Marie-Tooth disease; Pediatric; Electrophysiology; Gait;
A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease
Keywords: CMT2B; Charcot-Marie-Tooth type 2B; CMT; Charcot-Marie-Tooth disease; HSN1; Hereditary sensory neuropathy 1; LOD; Pairwise logarithms of odds; EMG; Needle electromyography; GAP43; growth-associated protein 43; Charcot-Marie-Tooth 2B disease; Linkage;
Revue de la littérature récente sur les neuropathies héréditaires
Keywords: Neuropathie héréditaire; Maladie de Charcot-Marie-Tooth; Trafic axonal; Physiopathologie; Hereditary neuropathy; Charcot-Marie-Tooth disease; Axonal traffic; Physiopathology;
Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease
Keywords: Charcot-Marie-Tooth disease; CMT1A; HNPP; PMP22; Tomacula;
The motor function measure to study limitation of activity in children and adults with Charcot-Marie-Tooth disease
Keywords: Charcot-Marie-Tooth disease; Motor Function Measure; Activity limitation; Neuromuscular disease; Functional scaleMaladie de Charcot-Marie-Tooth; Mesure de Fonction Motrice; Limitation d’activités; Maladie neuromusculaire; Échelle fonctionnelle
Sexual Functioning in Women with Mild and Severe Symptoms of Charcot-Marie-Tooth Disease
Keywords: Charcot-Marie-Tooth Disease; Female Sexuality; Hereditary Motor and Sensory Neuropathy
Association non fortuite d'une neutropénie chronique et d'une maladie de Charcot-Marie-Tooth en rapport avec une mutation de la dynamine 2
Keywords: Maladie de Charcot-Marie-Tooth; Dynamine 2; Neutropénie; Charcot-Marie-Tooth disease; Dynamin 2; Neutropenia;
Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain
Keywords: Peripheral neuropathy; MPZ; Charcot-Marie-Tooth disease; Neuropathic pain; Quantitative sensory testing; Intraepidermal nerve fibre density;
Neuro-orthopaedic evaluation of children and adolescents: A simplified algorithm
Keywords: Neuromuscular diseases; Cerebral palsy; Charcot-Marie-Tooth disease; Children
Guía diagnóstica en el paciente con enfermedad de Charcot-Marie-Tooth
Keywords: Axón; Consejo genético; Diagnóstico molecular; Enfermedad de Charcot-Marie-Tooth; Enfermedad de Dejerine-Sottas; Guía clínica; Mielina; Mutación génica; Neuropatía genética; Velocidad de conducción motora de nervioAxon; Charcot-Marie-Tooth disease; Clinic
Guidelines for molecular diagnosis of Charcot-Marie-Tooth disease
Keywords: Axon; Charcot-Marie-Tooth disease; Clinical guideline; Dejerine–Sottas disease; Genetic counselling; Gene mutation; Genetic neuropathy; Molecular diagnosis; Myelin; Motor nerve conduction velocityAxón; Consejo genético; Diagnóstico molecular; Enfermedad d
Cavus foot, from neonates to adolescents
Keywords: Pes cavus; Charcot-Marie-Tooth disease; Neurology; Morphological types
Hindfoot Varus and Neurologic Disorders
Keywords: Cavovarus; Charcot-Marie-Tooth disease; Hindfoot varus; Neurologic disorder; Management;
Case reportConduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation
Keywords: Charcot-Marie-Tooth disease; CMT; Tonic pupils; Myelin protein zero; Conduction block;
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero
Keywords: Charcot-Marie-Tooth disease; Copy number variations; Myelin protein zero; Genetics
Surgical Management of Pes Cavus Deformity with an Underlying Neurological Disorder: A Case Presentation
Keywords: 4; Charcot-Marie-Tooth disease; Cole osteotomy; equinus; foot; metatarsal; neuropathy; surgery;
Variable phenotypes are associated with PMP22 missense mutations
Keywords: Charcot-Marie-Tooth disease; PMP22; HNPP
Enfermedad de Charcot-Marie-Tooth: revisión con énfasis en la fisiopatología del pie cavo
Keywords: Axón; Enfermedad de Charcot-Marie-Tooth; Enfermedad de Dejerine-Sottas; Mielina; Mutación génica; Neuropatía genética; Pie cavo; Resonancia magnética; Velocidad de conducción nerviosa; Vitamina CAxon; Charcot-Marie-Tooth disease; Dejerine-Sottas disease;
Tendon Transfers for the Adult Flexible Cavovarus Foot
Keywords: Cavovarus; Equinocavovarus; Equinovarus; Hereditary motor sensory neuropathy; Charcot-Marie-Tooth disease; Tendon transfer;
Enfermedad respiratoria y parálisis diafragmática en la enfermedad de Charcot-Marie-Tooth
Keywords: Parálisis diafragmática; Charcot-Marie-Tooth; Insuficiencia respiratoria; Pediatría; Ventilación no invasivaDiaphragmatic Paralysis; Charcot-Marie-Tooth disease; Respiratory Insufficiency; Paediatrics; Non-invasive Ventilation
Clinical characterization and genetic analysis of a possible novel type of dominant Charcot-Marie-Tooth disease
Keywords: CMT; DI-CMT; Dominant intermediate CMT; Charcot-Marie-Tooth disease; HMSN;
Flexible cavovarus feet in Charcot-Marie-Tooth disease treated with first ray proximal dorsiflexion osteotomy combined with soft tissue surgery: A short-term to mid-term outcome study
Keywords: pes cavovarus; Charcot-Marie-Tooth disease; HMSN; Tendon transfer; Osteotomy
Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial
Keywords: Charcot-Marie-Tooth disease; Children; Peripheral neuropathy; Physical therapy modalities; Static stretching, Muscle stretching exercises
Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease
Keywords: Charcot-Marie-Tooth disease; Foot; Ankle; Weakness; Strength; Therapy; Intervention; Child
What we do not know about pregnancy in hereditary neuromuscular disorders
Keywords: Neuromuscular disorders; Pregnancy; Charcot-Marie-Tooth disease; Myotonic dystrophy; Facioscapulohumeral dystrophy
Persistent CNS dysfunction in a boy with CMT1X
Keywords: Charcot-Marie-Tooth disease; Central nervous system; Connexin 32
ACQUIRED PES CAVUS IN CHARCOT-MARIE-TOOTH DISEASE
Keywords: Polyneuropathies; Charcot-Marie-Tooth Disease; Foot deformities