Literature DB >> 25152966

Striking pathology in Leigh syndrome associated with the MTATP6 T8993G mutation.

Gabriella Sinko1, Ferenc Garzuly2, Bernadette Kalman3.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25152966     DOI： 10.1016/j.pediatrneurol.2014.07.015

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


× No keyword cloud information.
  2 in total

Review 1.  MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Authors:  Rebecca D Ganetzky; Claudia Stendel; Elizabeth M McCormick; Zarazuela Zolkipli-Cunningham; Amy C Goldstein; Thomas Klopstock; Marni J Falk
Journal:  Hum Mutat       Date:  2019-03-04       Impact factor: 4.878

2.  Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations.

Authors:  Xiao-Lin Yu; Chuan-Zhu Yan; Kun-Qian Ji; Peng-Fei Lin; Xue-Bi Xu; Ting-Jun Dai; Wei Li; Yu-Ying Zhao
Journal:  Chin Med J (Engl)       Date:  2018-11-20       Impact factor: 2.628
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.