Literature DB >> 3466055

Localization of the gene for X-linked spinal muscular atrophy.

K H Fischbeck, V Ionasescu, A W Ritter, R Ionasescu, K Davies, S Ball, P Bosch, T Burns, I Hausmanowa-Petrusewicz, J Borkowska.   

Abstract

We used probes for DNA polymorphisms on the X chromosome to study genetic linkage in seven families with X-linked adult-onset spinal muscular atrophy. We found significant linkage to the marker DXYS1 on the proximal X chromosome long arm and loose linkage or nonlinkage to markers elsewhere. Our analysis localizes the gene defect for this form of anterior horn cell disease.

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Year:  1986        PMID: 3466055     DOI: 10.1212/wnl.36.12.1595

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  9 in total

1.  Rare association of antisynthetase syndrome and Kennedy's disease.

Authors:  Nora Szabo; Szilveszter Lukacs; Wiranthi Gunasekera; Katalin Danko
Journal:  Clin Rheumatol       Date:  2008-07-01       Impact factor: 2.980

2.  Sensory involvement in X-linked spino-bulbar muscular atrophy (Kennedy's syndrome): an electrophysiological study.

Authors:  A Polo; F Teatini; S D'Anna; P Manganotti; A Salviati; B Dallapiccola; G Zanette; N Rizzuto
Journal:  J Neurol       Date:  1996-05       Impact factor: 4.849

Review 3.  Kennedy disease.

Authors:  K H Fischbeck
Journal:  J Inherit Metab Dis       Date:  1997-06       Impact factor: 4.982

4.  Spinal muscular atrophy--a clinicopathologic analysis.

Authors:  V V Radhakrishnan; M D Nair; A Kuruvilla; K Radhakrishnan; R Anandam
Journal:  Indian J Pediatr       Date:  1997 Sep-Oct       Impact factor: 1.967

Review 5.  Animal models of Kennedy disease.

Authors:  Diane E Merry
Journal:  NeuroRx       Date:  2005-07

6.  Prospective study of gross motor development in children with SMA type II.

Authors:  R Bono; M Inverno; G Botteon; E Iotti; M Estienne; A Berardinelli; G Lanzi; E Fedrizzi
Journal:  Ital J Neurol Sci       Date:  1995-05

7.  Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings.

Authors:  P J Shaw; P G Ince; J Slade; J Burn; N E Cartlidge
Journal:  J Neurol Neurosurg Psychiatry       Date:  1991-11       Impact factor: 10.154

Review 8.  Polyglutamine androgen receptor-mediated neuromuscular disease.

Authors:  Elisa Giorgetti; Andrew P Lieberman
Journal:  Cell Mol Life Sci       Date:  2016-05-17       Impact factor: 9.261

Review 9.  Androgen receptor and Kennedy disease/spinal bulbar muscular atrophy.

Authors:  Douglas Ashley Monks; Pengcheng Rao; Kaiguo Mo; Jamie Ann Johansen; Gareth Lewis; Michael Quentin Kemp
Journal:  Horm Behav       Date:  2008-01-05       Impact factor: 3.587

  9 in total

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