Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
The parkin gene and its phenotype
Autore:
Bonifati, V; De Michele, G; Lucking, CB; Durr, A; Fabrizio, E; Ambrosio, G; Vanacore, N; De Mari, M; Marconi, R; Capus, L; Breteler, MMB; Gasser, T; Oostra, B; Wood, N; Agid, Y; Filla, A; Meco, G; Brice, A;
Indirizzi:
Univ La Sapienza, Dept Neurol Sci, I-00185 Rome, Italy Univ La Sapienza Rome Italy I-00185 Dept Neurol Sci, I-00185 Rome, Italy Univ Naples Federico II, Dept Neurol Sci, Naples, Italy Univ Naples Federico II Naples Italy II, Dept Neurol Sci, Naples, Italy Hop La Pitie Salpetriere, INSERM, U289, Paris, France Hop La Pitie Salpetriere Paris France iere, INSERM, U289, Paris, France Univ Bari, Inst Neurol, I-70121 Bari, Italy Univ Bari Bari Italy I-70121Univ Bari, Inst Neurol, I-70121 Bari, Italy Misericordia Hosp, Div Neurol, Grosseto, Italy Misericordia Hosp Grosseto Italy rdia Hosp, Div Neurol, Grosseto, Italy Univ Trieste, Inst Neurol, I-34127 Trieste, Italy Univ Trieste Trieste Italy I-34127 , Inst Neurol, I-34127 Trieste, Italy Erasmus Univ, Dept Epidemiol & Biostat, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Univ Munich, Klinikum Grosshadern, Neurol Klin, D-8000 Munich, Germany Univ Munich Munich Germany D-8000 n, Neurol Klin, D-8000 Munich, Germany Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Inst Neurol, London WC1N 3BG, England Inst Neurol London England WC1N 3BG nst Neurol, London WC1N 3BG, England
Titolo Testata:
NEUROLOGICAL SCIENCES
fascicolo: 1, volume: 22, anno: 2001,
pagine: 51 - 52
SICI:
1590-1874(200102)22:1<51:TPGAIP>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE JUVENILE PARKINSONISM; MUTATIONS; DISEASE; ONSET; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Bonifati, V Univ La Sapienza, Dept Neurol Sci, Viale Univ 30, I-00185 Rome, Italy Univ La Sapienza Viale Univ 30 Rome Italy I-00185 Rome, Italy
Citazione:
V. Bonifati et al., "The parkin gene and its phenotype", NEUROL SCI, 22(1), 2001, pp. 51-52

Abstract

Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s in Europe), and it overlaps with dopa-responsive dystonia in cases with the earliest onset, and with clinically typical Parkinson's disease in caseswith later onset. Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:25:07