Keywords: Charcot-Marie-Tooth; CMT; CMT1A; Neuropathy; MUNIX; Outcome;
مقالات ISI (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Muscle ultrasound; Charcot-Marie-Tooth; Nerve ultrasound; Outcome biomarkers; CMT Neuropathy Score;
Keywords: Charcot-Marie-Tooth; Sport; Swimming; Paralympic record; Quality of life; Self-esteem;
Keywords: Exercise; Fatigue; Neuromuscular diseases; Rehabilitation; Self efficacy; CMT; Charcot-Marie-Tooth; MS; multiple sclerosis; PADS-R; Physical Activity Disability Survey-Revised;
Keywords: Neuropatia; Genetica; Charcot-Marie-Tooth; Neuropatia sensitiva ereditaria; Malattia mitocondriale; Neuropatia delle porfirie; Malattia di Fabry;
Keywords: Cavovarus; Foot; Tendon transfers; Charcot-Marie-Tooth;
Keywords: Neuromuscular foot; Charcot-Marie-Tooth; Clubfoot; Muscular dystrophy; Cerebral palsy; Spina bifida; Myelomeningocele;
Hibbs Tenosuspension
Keywords: Hibbs tenosuspension; Hibbs tendon transfer; Extensor digitorum longus to midfoot; Charcot-Marie-Tooth; Extensor substitution;
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
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
Keywords: Charcot-Marie-Tooth; CMT2K; GDAP1 variants; Pathogenic mutation; Hereditary neuropathy;
Research PaperAge-related accumulation of phosphorylated mitofusin 2 protein in retinal ganglion cells correlates with glaucoma progression
Keywords: CMT; Charcot-Marie-Tooth; DBA; DBA/2J; DOA; dominant optic atrophy; D2G; DBA/2JGpnmb +;  IOP; intraocular pressure; Mfn1; mitofusin 1; Mfn2; mitofusin 2; NICIF; nanoimmuno capillary isoelectric focusing; NP; NanoPro; ON; optic nerve; Opa1; optic atrophy
The self-association and activity regulation of LRSAM1 E3 ligase
Keywords: LRSAM1; E3 ligase; Self-association; Intermolecular ubiquitination; N-terminal ubiquitination; LRSAM1; Human leucine-rich repeat and sterile alpha motif-containing protein 1; RING; really interesting new gene; LRR; leucine-rich repeats; CC; coiled coil; S
A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration
Keywords: GDAP1; Charcot-Marie-Tooth; Mitochondria; Insulin;
In-vivo reflectance confocal microscopy of Meissner's corpuscles in diabetic distal symmetric polyneuropathy
Keywords: AAN; American Academy of Neurology; AMP; amplitude; ANCOVA; analysis of covariance; CMAP; compound motor action potential; CMT; Charcot-Marie-Tooth; CTSA; Clinical and Translational Science Award; CV; conduction velocity; ENFD; epidermal nerve fiber densi
Postural instability in Charcot-Marie-Tooth 1A disease
Keywords: Charcot-Marie-Tooth; Postural imbalance; Distal muscle weakness;
Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients
Keywords: Connexin 32; Gap junction beta 1; Charcot-Marie-Tooth; CMTX1;
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Keywords: spinal muscular atrophy with lower extremity predominance; SMA-LED; distal spinal muscular atrophy; dSMA; whole exome sequencing; DYNC1H1; Charcot-Marie-Tooth;
Selected items from the Charcot-Marie-Tooth (CMT) Neuropathy Score and secondary clinical outcome measures serve as sensitive clinical markers of disease severity in CMT1A patients
Keywords: Charcot-Marie-Tooth; CMT1A; HMSN; Secondary clinical outcome measures; CMTNS; Score generation;
Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population
Keywords: Charcot-Marie-Tooth; Hereditary neuropathy; Peripheral neuropathy; Genetics; Neuromuscular;
Deformidad raquídea en los pacientes afectos de la enfermedad de Charcot-Marie-Tooth
Keywords: Charcot-Marie-Tooth; Deformidad raquídea; EscoliosisCharcot-Marie-Tooth; Spinal deformity; Scoliosis
Modèles animaux dans la maladie de Charcot-Marie-Tooth et applications de la compréhension de la maladie chez l'homme
Keywords: Charcot-Marie-Tooth; Modèles animaux; Pathomécanismes; Stratégies thérapeutiques; Charcot-Marie-Tooth; Animal models; Pathomechanisms; Therapeutic strategies;
Joint Sparing Correction of Cavovarus Feet in Charcot-Marie-Tooth Disease
Keywords: Charcot-Marie-Tooth; Cavovarus; Osteotomy; Tendon transfers; Arthrodesis;
Inherited Peripheral Neuropathies
Keywords: Charcot-Marie-Tooth; Inherited neuropathy; Genetic testing;
Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins
Keywords: ALS; amyotrophic lateral sclerosis; AR; androgen receptor; ATG5; autophagy-related gene 5; Bag; Bcl-2 associated athanogene; CBP; CREB-binding protein; CMA; chaperone-mediated autophagy; CMT; Charcot-Marie-Tooth; DAO; d-amino acid oxidase; DCTN1; dynactin
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
Correlation between muscle atrophy on MRI and manual strength testing in hereditary neuropathies
Keywords: Charcot-Marie-Tooth; Hereditary motor neuropathy; Neuropathy; MRI
Mechanisms of neuropathic pain in patients with Charcot-Marie-Tooth 1 A: A laser-evoked potential study
Keywords: Charcot-Marie-Tooth; Neuropathic pain; Laser-evoked potentials; Pain specific questionnaire;
Charcot-Marie-Tooth type 1a in a child with Long QT syndrome
Keywords: Charcot-Marie-Tooth; Long QT syndrome; Ion channels; Demyelinating sensorimotor neuropathy
Diagnostic moléculaire des formes axonales de la maladie de Charcot-Marie-Tooth
Keywords: Charcot-Marie-Tooth; CMT2; Stratégie de diagnostic; Charcot-Marie-Tooth; CMT2; Molecular diagnosis strategy;
Natural history of CMT1A including QoL: A 2-year prospective study
Keywords: Charcot-Marie-tooth; CMT1A; Quality of life; Disability; Natural history;
Nuestra experiencia en el estudio clÃnico y electrofisiológico de pacientes con la enfermedad de Charcot-Marie-Tooth tipo 1
Keywords: Charcot-Marie-Tooth; neuropatÃas sensitivo-motoras hereditarias; pie cavo; rehabilitación; Charcot-Marie-Tooth; hereditary motor-sensory neuropathies; pes cavus; rehabilitation;
Auditory neuropathy: Endocochlear lesion or temporal processing impairment? Implications for diagnosis and management
Keywords: Auditory neuropathy; Auditory dys-synchrony; Auditory synaptopathy; Charcot-Marie-Tooth; Hearing aids; Cochlear implants
New movements in neurofilament transport, turnover and disease
Keywords: Neurofilament; Transport; Turnover; Phosphorylation; CMT; Charcot-Marie-Tooth; Disease; Neuropathology; Motor Neuron; Intermediate filament
Les limites biologiques du concept de polyradiculonévrite chronique
Keywords: Polyradiculonévrites chroniques; Liquide céphalo-rachidien; Diabète; Gammapathie monoclonale; Anticorps; Charcot-Marie-Tooth; Chronic inflammatory demyelinating polyneuropathy; Cerebrospinal fluid; Diabetes mellitus; Monoclonal gammopathy; Antibodies;
Association de maladie de Charcot-Marie-Tooth et de syringomyélie révélée par la survenue de troubles urinaires
Keywords: Charcot-Marie-Tooth; Syringomyélie; Signes urinaires; Charcot-Marie-Tooth disease; Syringomyelia; Urinary signs;