Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders

Clinical Genetics

Volumn 79, Issue 1, 2011, Pages 23-34

  Merner, N D ^a   Dion, P A ^a   Rouleau, G A ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

ATP7A; Copper homeostasis; Disease mechanism; Distal hereditary motor neuropathy; Genetics; Peripheral neuropathy

Indexed keywords

DYNACTIN; DYNEIN ADENOSINE TRIPHOSPHATASE; GLYCINE TRANSFER RNA LIGASE; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 27; HEAT SHOCK PROTEIN 40; HEAT SHOCK PROTEIN 70; IMMUNOGLOBULIN MU CHAIN; MENKES PROTEIN; PLECKSTRIN; RHO FACTOR; TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; WILSON DISEASE PROTEIN;

ARTICLE; CLINICAL ASSESSMENT; CONGENITAL GENERALIZED LIPODYSTROPHY; COPPER METABOLISM; GENE ACTIVATION; GENE CONTROL; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MOTOR NEURON DISEASE; NONHUMAN; PRIORITY JOURNAL;

EID: 78650034995     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01591.x     Document Type: Article

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