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
مقالات ISI (ترجمه نشده)
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Cargo-influences on the biodistribution of hollow mesoporous silica nanoparticles as studied by quantitative 19F-magnetic resonance imaging
Keywords: CA; contrast agent; DPBS; Dulbecco's phosphate buffered saline solution; FA; flip angle; FID; free induction decay; HDL; high density lipoproteins; HMSN; hollow mesoporous silica nanoparticle; HMSN-PFCE; HMSNs loaded with PFCE; IEF; isoelectric focusing
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
Case reportEffective cauda equina decompression in two siblings with Charcot-Marie-Tooth disease type 1B
Keywords: Charcot-Marie-Tooth; HMSN; Neurosurgery;
Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: An update
Keywords: HMSN; Charcot-Marie-Tooth disease (CMT); AR CMT1; AR CMT2; NGS; PXT3003 trial;
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;
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
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