Literature DB >> 10102446

Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.

C Casali1, G M Fabrizi, F M Santorelli, G Colazza, M Villanova, M T Dotti, T Cavallaro, E Cardaioli, C Battisti, L Manneschi, G C DiGennaro, D Fortini, M Spadaro, C Morocutti, A Federico.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10102446     DOI： 10.1212/wnl.52.5.1103

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


× No keyword cloud information.
  4 in total

1.  Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

Authors:  Belén Bornstein; José Antonio Mas; Clarice Patrono; Miguel Angel Fernández-Moreno; Emiliano González-Vioque; Yolanda Campos; Rosalba Carrozzo; Miguel Angel Martín; Pilar del Hoyo; Filippo M Santorelli; Joaquín Arenas; Rafael Garesse
Journal:  Biochem J       Date:  2005-05-01       Impact factor: 3.857

Review 2.  Myoclonus-Ataxia Syndromes: A Diagnostic Approach.

Authors:  Malco Rossi; Sterre van der Veen; Marcelo Merello; Marina A J Tijssen; Bart van de Warrenburg
Journal:  Mov Disord Clin Pract       Date:  2020-11-03

3.  Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.

Authors:  Abdulaziz Alsemari; Hindi Nasser Al-Hindi
Journal:  Clin Case Rep       Date:  2015-11-23

4.  Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study.

Authors:  Nichola Zoe Lax; Philippa Denis Hepplewhite; Amy Katherine Reeve; Victoria Nesbitt; Robert McFarland; Evelyn Jaros; Robert William Taylor; Douglass Matthew Turnbull
Journal:  J Neuropathol Exp Neurol       Date:  2012-02       Impact factor: 3.685
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.