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Cover Image for Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy.

Suvasini Sharma, Preeti Singh, Erika Fernandez-Vizarra, Massimo Zeviani, Marjo S Van der Knaap, Ravindra Kumar Saran

Apr 18, 2018

inborn error of metabolism Leukodystrophy magnetic resonance imaging (MRI) mitochondrial disorder Seizures

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Cover Image for Metabolic effects of bezafibrate in mitochondrial disease.

Metabolic effects of bezafibrate in mitochondrial disease.

Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery

Mar 30, 2020

Mitochondrial DNA bezafibrate Metabolomics mitochondrial disorder Mitochondrial encephalomyopathy

Published by: EMBO molecular medicine

Cover Image for Metabolic effects of bezafibrate in mitochondrial disease.

Metabolic effects of bezafibrate in mitochondrial disease.

Hannah Steele, Aurora Gomez-Duran, Angela Pyle, Sila Hopton, Jane Newman, Renae J Stefanetti, Sarah J Charman, Jehill D Parikh, Langping He, Carlo Viscomi, Djordje G Jakovljevic, Kieren G Hollingsworth, Alan J Robinson, Robert W Taylor, Leonardo Bottolo, Rita Horvath, Patrick F Chinnery

Jan 31, 2020

bezafibrate Metabolomics Mitochondrial DNA mitochondrial disorder Mitochondrial encephalomyopathy Bezafibrate Humans Mitochondria Mitochondrial Myopathies Organelle Biogenesis

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Cover Image for A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

Sylvie Bannwarth, Samira Ait-El-Mkadem, Annabelle Chaussenot, Emmanuelle C Genin, Sandra Lacas-Gervais, Konstantina Fragaki, Laetitia Berg-Alonso, Yusuke Kageyama, Valérie Serre, David G Moore, Annie Verschueren, Cécile Rouzier, Isabelle Le Ber, Gaëlle Augé, Charlotte Cochaud, Françoise Lespinasse, Karine N'Guyen, Anne de Septenville, Alexis Brice, Patrick Yu-Wai-Man, Hiromi Sesaki, Jean Pouget, Véronique Paquis-Flucklinger

Mar 18, 2019

Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a...

CHCHD10 FTD-ALS mitochondrial DNA instability mitochondrial disorder Age of Onset Aged Alleles Amyotrophic Lateral Sclerosis DNA Mitochondrial Exome Female frontotemporal dementia HeLa Cells Humans Male Middle Aged Mitochondria Mitochondrial Diseases Mitochondrial Proteins Mutation Missense Pedigree Phenotype

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