Literature DB >> 25586537

Mitochondrial recessive ataxia syndrome: A neurological rarity not to be missed.

Andrea Mignarri1, Silvia Cenciarelli2, Paola Da Pozzo3, Elena Cardaioli3, Alessandro Malandrini3, Antonio Federico3, Maria Teresa Dotti3.   

Abstract

Entities:  

Keywords:  Autosomal recessive cerebellar ataxia; Brugada syndrome; MIRAS; Mithocondrial disease; POLG1; Sensory axonal neuropathy

Mesh：

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Year:  2015        PMID： 25586537     DOI： 10.1016/j.jns.2014.12.040

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 in total

1.  One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Authors:  Karien Esterhuizen; J Zander Lindeque; Shayne Mason; Francois H van der Westhuizen; Richard J Rodenburg; Paul de Laat; Jan A M Smeitink; Mirian C H Janssen; Roan Louw
Journal:  Metabolomics       Date:  2021-01-12       Impact factor: 4.290

2.  Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play?

Authors:  Panagiotis Zis; Ptolemaios Georgios Sarrigiannis; Dasappaiah Ganesh Rao; Nigel Hoggard; David Surendran Sanders; Marios Hadjivassiliou
Journal:  Cerebellum Ataxias       Date:  2017-12-22

Review 3.  Review: Central nervous system involvement in mitochondrial disease.

Authors:  N Z Lax; G S Gorman; D M Turnbull
Journal:  Neuropathol Appl Neurobiol       Date:  2016-07-07       Impact factor: 8.090
  3 in total

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