The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy

Journal of Neurology

Volumn 252, Issue 8, 2005, Pages 901-903

  Scarano, Valentina ^a   Mancini, Pietro ^a   Criscuolo, Chiara ^a   De Michele, Giuseppe ^a   Rinaldi, Carlo ^a   Tucci, Tecla ^a   Tessa, Alessandra ^b   Santorelli, Filippo M ^b   Perretti, Anna ^a   Santoro, Lucio ^a   Filla, Alessandro ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Atlastin; Axonal neuropathy; Dynamin; Hereditary spastic paraplegia

Indexed keywords

ATLASTIN; DYNAMIN; GUANOSINE TRIPHOSPHATASE; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHROMOSOME 14Q; FEMALE; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; MUTATION; NEUROPATHY; PRIORITY JOURNAL; SCHOOL CHILD; SPASTIC PARAPLEGIA;

ADOLESCENT; ARGININE; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MUTATION; PARAPLEGIA; PERIPHERAL NERVOUS SYSTEM DISEASES; TRYPTOPHAN;

EID: 23944446679     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-005-0768-1     Document Type: Article

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