Literature DB >> 6133167

Classification of the hereditary ataxias and paraplegias.

A E Harding.   

Abstract

Entities:  

Mesh：

Year:  1983        PMID： 6133167     DOI： 10.1016/s0140-6736(83)92879-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


× No keyword cloud information.
  250 in total

1.  The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

Authors:  P McMonagle; S Webb; M Hutchinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-01       Impact factor: 10.154

2.  Antioxidant enzymes in blood of patients with Friedreich's ataxia.

Authors:  G Tozzi; M Nuccetelli; M Lo Bello; S Bernardini; L Bellincampi; S Ballerini; L M Gaeta; C Casali; A Pastore; G Federici; E Bertini; F Piemonte
Journal:  Arch Dis Child       Date:  2002-05       Impact factor: 3.791

Review 3.  The complex clinical and genetic classification of inherited ataxias. I. Dominant ataxias.

Authors:  S Di Donato
Journal:  Ital J Neurol Sci       Date:  1998-12

4.  Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia.

Authors:  Eva López; Carlos Casasnovas; Javier Giménez; Antoni Matilla-Dueñas; Ivelisse Sánchez; Víctor Volpini
Journal:  Neurogenetics       Date:  2014-11-16       Impact factor: 2.660

5.  Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.

Authors:  M Zortea; A Vettori; C P Trevisan; S Bellini; G Vazza; M Armani; A Simonati; M L Mostacciuolo
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

6.  TDP-43 pathology in a case of hereditary spastic paraplegia with a NIPA1/SPG6 mutation.

Authors:  Maria Martinez-Lage; Laura Molina-Porcel; Dana Falcone; Leo McCluskey; Virginia M-Y Lee; Vivianna M Van Deerlin; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2012-08       Impact factor: 17.088

7.  ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies.

Authors:  Teodora Chamova; Laura Florez; Velina Guergueltcheva; Margarita Raycheva; Radka Kaneva; Hanns Lochmüller; Luba Kalaydjieva; Ivailo Tournev
Journal:  J Neurol       Date:  2011-10-19       Impact factor: 4.849

8.  Role of glutamine deamidation in neurodegenerative diseases associated with triplet repeat expansions: a hypothesis.

Authors:  Qurratulain Hasan; Ravindra Varma Alluri; Pragna Rao; Yog Raj Ahuja
Journal:  J Mol Neurosci       Date:  2006       Impact factor: 3.444

9.  Cognitive impairments in patients with spinocerebellar ataxia types 1, 2 and 3 are positively correlated to the clinical severity of ataxia symptoms.

Authors:  Jianhua Ma; Chuanjia Wu; Jing Lei; Xiaoning Zhang
Journal:  Int J Clin Exp Med       Date:  2014-12-15

Review 10.  Therapeutic strategies in Friedreich's ataxia.

Authors:  Timothy E Richardson; Heather N Kelly; Amanda E Yu; James W Simpkins
Journal:  Brain Res       Date:  2013-04-13       Impact factor: 3.252
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.