Keywords: نوروپاتی ارثی; Fabry's disease; Hereditary neuropathy; Painful neuropathy; Small fiber neuropathy; Lysosomal storage disease; Enzyme replacement therapy
مقالات ISI نوروپاتی ارثی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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.
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: نوروپاتی ارثی; Neuroimaging; Peripheral neuropathy; Electromyography; Nerve conduction study; Entrapment neuropathy; Hereditary neuropathy;
CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder
Keywords: نوروپاتی ارثی; Mitochondrial; Hereditary neuropathy; Phenotype; Genotype; Multisystem disease; Lactic acidosis;
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation
Keywords: نوروپاتی ارثی; 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: نوروپاتی ارثی; Charcot-Marie-Tooth disease; CMT; Epidemiology; Hereditary neuropathy; Associated features;
Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy
Keywords: نوروپاتی ارثی; HINT1; Hereditary neuropathy; Neuromyotonia;
A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy
Keywords: نوروپاتی ارثی; Hereditary neuropathy; Autosomal dominant; GNB4; Missense; Charcot-marie-Tooth;
Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
Keywords: نوروپاتی ارثی; Charcot-Marie-Tooth; CMT2K; GDAP1 variants; Pathogenic mutation; Hereditary neuropathy;
A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A
Keywords: نوروپاتی ارثی; Mitofusin 2; Early onset; Hereditary neuropathy; Charcot-Maria-Tooth; Axonal neuropathy; Pathology;
Revue de la littérature récente sur les neuropathies héréditaires
Keywords: نوروپاتی ارثی; Neuropathie héréditaire; Maladie de Charcot-Marie-Tooth; Trafic axonal; Physiopathologie; Hereditary neuropathy; Charcot-Marie-Tooth disease; Axonal traffic; Physiopathology;
Clinical spectrum and gender differences in a large cohort of Charcot-Marie-Tooth type 1A patients
Keywords: نوروپاتی ارثی; Charcot-Marie-Tooth disease; Hereditary neuropathy; Clinical spectrum; Disability; Quality of life; Gender;
Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype
Keywords: نوروپاتی ارثی; HSN; HSAN; SPTLC1; Cataract; Hereditary neuropathy;
The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation
Keywords: نوروپاتی ارثی; Charcot-Marie-Tooth disease type 4H; FGD4; Electrophysiology; Pathology; Hereditary neuropathy;
Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a German neuromuscular center population
Keywords: نوروپاتی ارثی; Charcot-Marie-Tooth; Hereditary neuropathy; Peripheral neuropathy; Genetics; Neuromuscular;
The Wlds transgene reduces axon loss in a Charcot-Marie-Tooth disease 1A rat model and nicotinamide delays post-traumatic axonal degeneration
Keywords: نوروپاتی ارثی; Wallerian-degeneration-slow; Charcot-Marie-Tooth disease 1A; CMT1A; Hereditary neuropathy; Axonal degeneration; Traumatic nerve injury; Nicotinamide
Les amyotrophies spinales distales
Keywords: نوروپاتی ارثی; Neuropathies héréditaires; Charcot, Marie et Tooth spinal; Charcot, Marie et Tooth type 2; Hereditary neuropathy; Spinal Charcot Marie Tooth; Type 2 Charcot Marie Tooth;
Familial amyloid polyneuropathy
Keywords: نوروپاتی ارثی; Peripheral neuropathy; Neuropathology; Amyloidosis; Hereditary neuropathy; Liver transplantation;
Auditory nerve is affected in one of two different point mutations of the neurofilament light gene
Keywords: نوروپاتی ارثی; Hereditary neuropathy; Asymptomatic auditory neuropathy; NF-L gene; Point mutation; Auditory brainstem responses; Pathophysiological mechanisms;
Experimental Therapeutics in Hereditary Neuropathies: The Past, the Present, and the Future
Keywords: نوروپاتی ارثی; Charcot-Marie-Tooth neuropathies; peripheral neuropathy; hereditary neuropathy; outcome measure; clinical trial design; therapy;
Refsum’s disease may mimic familial Guillain Barre syndrome
Keywords: نوروپاتی ارثی; Refsum; Guillain Barre; Hereditary neuropathy; Phytanic acid
136th ENMC International Workshop: Charcot-Marie-Tooth Disease Type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands
Keywords: نوروپاتی ارثی; Charcot-Marie-Tooth disease; Ascorbic acid; Peripheral Myelin Protein 22 (PMP22); Hereditary neuropathy; Clinical trial;
Medication-induced exacerbation of neuropathy in Charcot Marie Tooth Disease
Keywords: نوروپاتی ارثی; Toxic neuropathy; Vincristine; Chemotherapy; Nucleoside analogs; Hereditary neuropathy; Drug-induced neuropathy