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Titolo:
THE BULBOSPINAL NEURONOPATHY ANDROGEN REC EPTOR GENE DEFECT IS NOT SHARED BY PATIENTS WITH AMYOTROPHIC-LATERAL-SCLEROSIS
Autore:
DANEK A; BORASIO GD; WITT TN; KRESS W;
Indirizzi:
LUDWIG MAXIMILIANS UNIV MUNCHEN,NEUROL KLIN,MARCHIONINISTR 15 D-81377MUNICH GERMANY UNIV WURZBURG,INST HUMANGENET W-8700 WURZBURG GERMANY
Titolo Testata:
Aktuelle Neurologie
fascicolo: 2, volume: 21, anno: 1994,
pagine: 50 - 51
SICI:
0302-4350(1994)21:2<50:TBNARE>2.0.ZU;2-9
Fonte:
ISI
Lingua:
GER
Soggetto:
BULBAR MUSCULAR-ATROPHY; TRINUCLEOTIDE REPEAT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
A. Danek et al., "THE BULBOSPINAL NEURONOPATHY ANDROGEN REC EPTOR GENE DEFECT IS NOT SHARED BY PATIENTS WITH AMYOTROPHIC-LATERAL-SCLEROSIS", Aktuelle Neurologie, 21(2), 1994, pp. 50-51

Abstract

Based on the hypothesis of androgen receptor dysfunction in amyotrophic lateral sclerosis (ALS), the CAG-repeat stretch of exon 1 of the androgen receptor gene was analysed in 12 ALS patients, since abnormal length of this repeat is pathogenic for the motoneuron disease of X-linked bulbospinal neuronopathy. Repeat length in all ALS patients was normal. Therefore, a different defect of motoneuron androgen receptors than abnormal CAG-repeat expansion, if present at all, should be responsible for ALS.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 08:37:11