Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency

Author:

Almalki Abdulraheem,Alston Charlotte L.,Parker Alasdair,Simonic Ingrid,Mehta Sarju G.,He Langping,Reza Mojgan,Oliveira Jorge M.A.,Lightowlers Robert N.,McFarland Robert,Taylor Robert W.,Chrzanowska-Lightowlers Zofia M.A.

Funder

MRC Centre for Neuromuscular Diseases

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

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1. Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease;Molecular Genetics and Metabolism;2023-11

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3. Mitochondrial encephalomyopathy;Motor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders;2023

4. The hereditary spastic paraplegias;Handbook of Clinical Neurology;2023

5. Neuroprotection of cannabidiol in epileptic rats: Gut microbiome and metabolome sequencing;Frontiers in Nutrition;2022-11-16

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