The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms

Neurogenetics

Volumn 14, Issue 2, 2013, Pages 161-166

  Cannas, Antonino ^a   Borghero, Giuseppe ^a   Floris, Gian Luca ^a   Solla, Paolo ^a   Chiò, Adriano ^b   Traynor, Bryan J ^c   Calvo, Andrea ^b   Restagno, Gabriella ^d   Majounie, Elisa ^c   Costantino, Emanuela ^a   Piras, Valeria ^a   Lavra, Loredana ^a   Pani, Carla ^a   Orofino, Gianni ^a   Di Stefano, Francesca ^a   Tacconi, Paolo ^a   Mascia, Marcello Mario ^a   Muroni, Antonella ^a   Murru, Maria Rita ^a   Tranquilli, Stefania ^a   Corongiu, Daniela ^a   Rolesu, Marcella ^a   Cuccu, Stefania ^a   Marrosu, Francesco ^a   Marrosu, Maria Giovanna ^a   more..

^a UNIVERSITY OF CAGLIARI   (Italy)

^b UNIVERSITY OF TURIN   (Italy)

^c NATIONAL INSTITUTE ON AGING   (United States)

^d ASO OIRM Sant'Anna   (Italy)

Author keywords

Degenerative parkinsonism; Sardinia; TARDBP gene mutation; TDP 43 proteinopathies

Indexed keywords

TAR DNA BINDING PROTEIN;

ADULT; AGED; ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; COHORT ANALYSIS; CONTROLLED STUDY; DEGENERATIVE DISEASE; EXTRAPYRAMIDAL SYMPTOM; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HUMAN; HYPOTHESIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; PARKINSONISM; PATIENT IDENTIFICATION; PRIORITY JOURNAL; PYRAMIDAL SIGN;

AGED; AMYOTROPHIC LATERAL SCLEROSIS; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PHENOTYPE;

EID: 84877755209     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-013-0360-2     Document Type: Article

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