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Titolo:
Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease
Autore:
Blumen, SC; Brais, B; Korczyn, AD; Medinsky, S; Chapman, J; Asherov, A; Nisipeanu, P; Codere, F; Bouchard, JP; Fardeau, M; Tome, FMS; Rouleau, GA;
Indirizzi:
Hillel Yaffe Med Ctr, Dept Neurol, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr Hadera Israel IL-38100 rol, IL-38100 Hadera, Israel Tel Aviv Med Ctr, Dept Neurol, Tel Aviv, Israel Tel Aviv Med Ctr Tel Aviv Israel Med Ctr, Dept Neurol, Tel Aviv, Israel Tel Aviv Univ, Sieratzky Chair Neurol, Ramat Aviv, Israel Tel Aviv Univ Ramat Aviv Israel ratzky Chair Neurol, Ramat Aviv, Israel Univ Montreal, CHUM, Ctr Rech, Montreal, PQ, Canada Univ Montreal Montreal PQ Canada l, CHUM, Ctr Rech, Montreal, PQ, Canada McGill Univ, Ctr Res Neurosci, Montreal, PQ H3A 2T5, Canada McGill Univ Montreal PQ Canada H3A 2T5 osci, Montreal, PQ H3A 2T5, Canada Montreal Gen Hosp, Montreal, PQ H3G 1A4, Canada Montreal Gen Hosp Montreal PQ Canada H3G 1A4 Montreal, PQ H3G 1A4, Canada McGill Univ, Royal Victoria Hosp, Montreal, PQ H3A 1A1, Canada McGill Univ Montreal PQ Canada H3A 1A1 Hosp, Montreal, PQ H3A 1A1, Canada Hop Enfants Jesus, Dept Neurol Sci, Quebec City, PQ, Canada Hop Enfants Jesus Quebec City PQ Canada rol Sci, Quebec City, PQ, Canada Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U153, F-75634 Paris, FranceGrp Hosp Pitie Salpetriere Paris France F-75634 3, F-75634 Paris, France
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 1, volume: 46, anno: 1999,
pagine: 115 - 118
SICI:
0364-5134(199907)46:1<115:HFOMDH>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
NUCLEAR INCLUSIONS; CLINICAL-FEATURES; BUKHARA JEWS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Blumen, SC Hillel Yaffe Med Ctr, Dept Neurol, POB 169, IL-38100 Hadera, Israel Hillel Yaffe Med Ctr POB 169 Hadera Israel IL-38100 ra, Israel
Citazione:
S.C. Blumen et al., "Homozygotes for oculopharyngeal muscular dystrophy have a severe form of the disease", ANN NEUROL, 46(1), 1999, pp. 115-118

Abstract

Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7 patients with OPMD symptoms starting before the age of 36 years. AU were found to be homozygotes for the dominant (GCG)(9) OPMD mutation. On average, disease onset was 18 years earlier than in heterozygotes, and patients had a significantly larger number of muscle nuclei containing intranuclear inclusions (INIs) (9.4 vs 4.9%).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 05:49:50