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Literature DB >> 8890766

The inherited ataxias and the new genetics.

S R Hammans.

Abstract

Entities: Disease

Mesh：

Substances：
RNA, Messenger

Year: 1996 PMID： 8890766 PMCID： PMC486568 DOI： 10.1136/jnnp.61.4.327

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

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67 in total

1. Friedreich's ataxia-vitamin E responsive type. The chromosome 8 locus.

Authors: S Belal; F Hentati; C Ben Hamida; M Ben Hamida
Journal: Clin Neurosci Date: 1995

2. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias.

Authors: Y Trottier; Y Lutz; G Stevanin; G Imbert; D Devys; G Cancel; F Saudou; C Weber; G David; L Tora
Journal: Nature Date: 1995-11-23 Impact factor: 49.962

3. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Authors: A Benomar; L Krols; G Stevanin; G Cancel; E LeGuern; G David; H Ouhabi; J J Martin; A Dürr; A Zaim
Journal: Nat Genet Date: 1995-05 Impact factor: 38.330

4. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

Authors: L G Gouw; C D Kaplan; J H Haines; K B Digre; S L Rutledge; A Matilla; M Leppert; H Y Zoghbi; L J Ptácek
Journal: Nat Genet Date: 1995-05 Impact factor: 38.330

Review 5. Machado-Joseph disease.

Authors: L Sudarsky; P Coutinho
Journal: Clin Neurosci Date: 1995

6. Friedreich's ataxia: a defect in signal transduction?

Authors: J J Carvajal; M A Pook; K Doudney; R Hillermann; D Wilkes; S al-Mahdawi; R Williamson; S Chamberlain
Journal: Hum Mol Genet Date: 1995-08 Impact factor: 6.150

7. Molecular features of the CAG repeats and clinical manifestation of Machado-Joseph disease.

Authors: H Maruyama; S Nakamura; Z Matsuyama; T Sakai; M Doyu; G Sobue; M Seto; M Tsujihata; T Oh-i; T Nishio
Journal: Hum Mol Genet Date: 1995-05 Impact factor: 6.150

8. Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein.

Authors: T Gotoda; M Arita; H Arai; K Inoue; T Yokota; Y Fukuo; Y Yazaki; N Yamada
Journal: N Engl J Med Date: 1995-11-16 Impact factor: 91.245

9. Detection of the Machado-Joseph disease/spinocerebellar ataxia three trinucleotide repeat expansion in families with autosomal dominant motor disorders, including the Drew family of Walworth.

Authors: P Giunti; M G Sweeney; A E Harding
Journal: Brain Date: 1995-10 Impact factor: 13.501