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Titolo:
Parkin gene causing benign autosomal recessive juvenile parkinsonism
Autore:
Nisipeanu, P; Inzelberg, R; Mouch, SA; Carasso, RL; Blumen, SC; Zhang, J; Matsumine, H; Hattori, N; Mizuno, Y;
Indirizzi:
Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr Hadera Israel IL-38100 rol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr, Dept Internal Med B, Hadera, Israel Hillel Yaffe MedCtr Hadera Israel Dept Internal Med B, Hadera, Israel Technion Israel Inst Technol, Bruce Rappaport Fac Med, IL-31096 Haifa, Israel Technion Israel Inst Technol Haifa Israel IL-31096 L-31096 Haifa, Israel Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan Juntendo Univ Tokyo Japan 113 iv, Sch Med, Dept Neurol, Tokyo 113, Japan
Titolo Testata:
NEUROLOGY
fascicolo: 11, volume: 56, anno: 2001,
pagine: 1573 - 1575
SICI:
0028-3878(20010612)56:11<1573:PGCBAR>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
JAPANESE FAMILIES; DISEASE; ONSET; DELETIONS; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
10
Recensione:
Indirizzi per estratti:
Indirizzo: Nisipeanu, P Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr Hadera Israel IL-38100 Hadera, Israel
Citazione:
P. Nisipeanu et al., "Parkin gene causing benign autosomal recessive juvenile parkinsonism", NEUROLOGY, 56(11), 2001, pp. 1573-1575

Abstract

Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkin gene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.

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Documento generato il 18/09/20 alle ore 16:51:53