Complex phenotype in an Italian family with a novel mutation in SPG3A

Journal of Neurology

Volumn 257, Issue 3, 2010, Pages 328-331

  De Leva, Maria Fulvia ^a   Filla, Alessandro ^a   Criscuolo, Chiara ^a   Tessa, Alessandra ^b   Pappatà, Sabina ^a   Quarantelli, Mario ^a   Bilo, Leonilda ^a   Peluso, Silvio ^a   Antenora, Antonella ^a   Longo, Dario ^c   Santorelli, Filippo M ^b   De Michele, Giuseppe ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF TURIN   (Italy)

Author keywords

Amyotrophic lateral sclerosis; Hereditary spastic paraplegias; SPG3A

Indexed keywords

GENE PRODUCT; PROTEIN SPG3A; UNCLASSIFIED DRUG;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CASE REPORT; CEREBELLUM DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY STUDY; FEMALE; GENETIC ASSOCIATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; ITALY; MALE; MISSENSE MUTATION; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 77951204811     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5311-3     Document Type: Article

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