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Titolo:
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
Autore:
Hand, CK; Khoris, J; Salachas, F; Gros-Louis, F; Lopes, AAS; Mayeux-Portas, V; Brown, RH; Meininger, V; Camu, W; Rouleau, GA;
Indirizzi:
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, Res Inst, Montreal, PQ H3G 1A4, Canada Montreal Gen Hosp Montreal PQ Canada H3G 1A4 Montreal, PQ H3G 1A4, Canada Hop Gui De Chauliac, Dept Neurol, Montpellier, France Hop Gui De ChauliacMontpellier France Dept Neurol, Montpellier, France Hop Gui De Chauliac, Inst Biol, INSERM,V336, UNCD Mol Unit, Montpellier, France Hop Gui De Chauliac Montpellier France CD Mol Unit, Montpellier, France Hop La Pitie Salpetriere, Div Mazarin, Serv Neurol, Paris, France Hop La Pitie Salpetriere Paris France zarin, Serv Neurol, Paris, France Massachusetts Gen Hosp, Boston, MA 02114 USA Massachusetts Gen Hosp Boston MA USA 02114 Gen Hosp, Boston, MA 02114 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 70, anno: 2002,
pagine: 251 - 256
SICI:
0002-9297(200201)70:1<251:ANLFFA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
MANGANESE SUPEROXIDE-DISMUTASE; SPINAL MUSCULAR-ATROPHY; MOTOR-NEURON DISEASE; TRANSGENIC MICE; MUTANT MICE; LINKAGE; GENE; MUTATIONS; DEMENTIA; PARKINSONISM;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Rouleau, GA Montreal Gen Hosp L7 224, 1650 Cedar Ave, Montreal, PQ H3G 1A4, Canada Montreal Gen Hosp L7 224 1650 Cedar Ave Montreal PQ Canada H3G 1A4
Citazione:
C.K. Hand et al., "A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q", AM J HU GEN, 70(1), 2002, pp. 251-256

Abstract

Amyotrophic lateral sclerosis (ALS) is an adult-onset degenerative disorder characterized by the death of motor neurons in the cortex, brain stem, and spinal cord. Despite intensive research the basic pathophysiology of ALS remains unclear. Although most cases are sporadic, similar to 10% of ALS cases are familial (FALS). Mutations in the Cu/Zn superoxide dismutase (SOD1)gene cause similar to 20% of FALS. The gene(s) responsible for the remaining 80% of FALS remain to be found. Using a large European kindred without SOD1 mutation and with classic autosomal dominant adult-onset ALS, we have identified a novel locus by performing a genome scan and linkage analysis. The maximum LOD score is 4.5 at recombination fraction 0.0, for polymorphismD18S39. Haplotype analysis has identified a 7.5-cM, 8-Mb region of chromosome 18q21, flanked by markers D18S846 and D18S1109, as a novel FALS locus.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/10/19 alle ore 23:17:52