Four novel cases of periaxin-related neuropathy and review of the literature

Neurology

Volumn 75, Issue 20, 2010, Pages 1830-1838

  Marchesi, C ^a   Milani, M ^a   Morbin, M ^a   Cesani, M ^a   Lauria, G ^a   Scaioli, V ^a   Piccolo, G ^b   Fabrizi, G M ^c   Cavallaro, T ^c   Taroni, F ^a   Pareyson, D ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; MYELIN; PERIAXIN PROTEIN; UNCLASSIFIED DRUG;

ACTION POTENTIAL; ADULT; ARTICLE; ATAXIA; BASEMENT MEMBRANE; CASE REPORT; DEMYELINATING NEUROPATHY; DEMYELINATION; DISEASE CARRIER; DISEASE SEVERITY; ELECTROPHYSIOLOGY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MALE; MOTOR NERVE CONDUCTION; NERVE BIOPSY; NERVE POTENTIAL; NEUROPATHY; NONSENSE MUTATION; ONION; PERIPHERAL NERVE; PREDICTION; PRIORITY JOURNAL; SENSORY NERVE; SIBLING; SURAL NERVE;

ADULT; CHARCOT-MARIE-TOOTH DISEASE; DEMYELINATING DISEASES; DISEASE PROGRESSION; FEMALE; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; MYELIN SHEATH; RETROSPECTIVE STUDIES; SURAL NERVE;

EID: 78650015297     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181fd6314     Document Type: Article

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