Keywords: CMT; Charcot Marie Tooth disease; AD; Autosomal dominant; AR; Autosomal recessive; MNCV; Motor nerve conduction velocity; CMAP; Compound muscle action potential; PMP22; Peripheral myelin protein 22; HMSN; Hereditary motor sensory neuropathy; LITAF; lipopo
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A case with CMTX1 disease showing transient ischemic-attack-like episodes
Keywords: Transient ischemic-attack-like; Stroke-like; CMTX1; GJB1; Pes cavus;
Nerve ultrasound findings differentiate Charcot-Marie-Tooth disease (CMT) 1A from other demyelinating CMTs
Keywords: Cross sectional area (CSA); High resolution ultrasound (HRUS); Inherited neuropathy; Nerve conduction study (NCS); Nerve ultrasound; Phenotypical spectrum; PMP22; peripheral myelin protein 22; GJB1; gap-junction protein beta-1; Cx32; connexin 32; MPZ; mye
Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study
Keywords: Charcot Marie Tooth; GJB1; R75P; R75Q; R75W; Molecular modeling; Molecular Dynamics simulation;
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;
A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot–Marie–Tooth disease
Keywords: Connexin32; Gap junction protein beta 1; GJB1; Hereditary sensory motor neuropathy; X-linked Charcot–Marie–Tooth disease
Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement
Keywords: Charcot- Marie- Tooth; CMTX; Connexin 32; GJB1; Mutation; CNS involvement;
Axonal excitability in X-linked dominant Charcot Marie Tooth disease
Keywords: CMTX; Nerve excitability; Connexin-32; GJB1; Demyelination;
Mutational analysis of the 5â² non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy
Keywords: Charcot-Marie-Tooth disease; CMT; HMSN; GJB1; CX32; 5â² non-coding region; Promoter;
Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position
Keywords: CMT X1; Hereditary motor sensory peripheral neuropathy; HMSN; GJB1; Cx32; Mutation
Short communicationPOLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria
Keywords: POLG; Polymerase gamma; MRI; Magnetic resonance imaging; EKG; Electrocardiogram; EEG; Electroencephalogram; GALT; Galactose-1-phosphate uridylyltransferase; GJB1; Gap junction beta-1; MPZ; Myelin protein zero; DNA; Deoxyribose nucleic acid; STR; Short tan
X inactivation in females with X-linked Charcot-Marie-Tooth disease
Keywords: Charcot-Marie-Tooth disease; GJB1; Connexin32; X inactivation;
Hand weakness in Charcot-Marie-Tooth disease 1X
Keywords: Charcot-Marie-Tooth disease; Connexin 32; Hand strength; Overwork weakness; Neuropathy; GJB1;
Connexin-dependent transcellular transcriptomic networks in mouse brain
Keywords: Gap junction; Gja1; Gjb1; Gja9; Transcription factors; Cx43; Cx32; Cx36
Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE
Keywords: Charcot–Marie–Tooth neuropathy; Connexin 32 promoter; GJB1; LITAF/SIMPLE gene polymorphism; Electrophysiology