Charcot-Marie-Tooth Disease and related hereditary neuropathies: From gene function to associated phenotypes

Current Molecular Medicine

Volumn 14, Issue 8, 2014, Pages 1009-1033

  Pareyson, D ^a   Saveri, P ^a   Piscosquito, G ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Charcot Marie Tooth disease (CMT); Distal Hereditary Motor Neuropathy (dHMN); Hereditary Sensory (Autonomic) Neuropathy (HSAN); Hereditary Sensory Motor Neuropathy (HSMN)

Indexed keywords

CYTOPLASMIC DYNEIN; CYTOSKELETON PROTEIN; GROWTH FACTOR; HEAT SHOCK PROTEIN; HEXOKINASE 1; INOSITOL 1 PHOSPHATASE; KINESIN 2; MITOFUSIN 2; NERVE GROWTH FACTOR; NEUROFILAMENT PROTEIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; RAB7 PROTEIN; RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR; TRIPARTITE MOTIF PROTEIN 5;

ARTICLE; DISEASE CLASSIFICATION; DYNAMICS; ENDOPLASMIC RETICULUM; ENERGY METABOLISM; GENE MUTATION; GOLGI COMPLEX; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NERVE FIBER TRANSPORT; NEUROMUSCULAR JUNCTION DISORDER; NEUROPATHY; PHENOTYPE;

EID: 84911489608     PISSN: 15665240     EISSN: 18755666     Source Type: Journal    
DOI: 10.2174/1566524014666141010154205     Document Type: Article

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