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Recent Advances in Mitochondrial Disease

Annual review of genomics and human genetics, 2017-08, Vol.18 (1), p.257-275

2017

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The genetics and pathology of mitochondrial disease

The Journal of pathology, 2017-01, Vol.241 (2), p.236-250

2017

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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Annals of neurology, 2015-05, Vol.77 (5), p.753-759

2015

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Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.148-163

2023

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

American journal of human genetics, 2016-05, Vol.98 (5), p.993-1000

2016

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Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

Genome Biology, 2020-09, Vol.21 (1), p.248-34, Article 248

2020

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A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

Human mutation, 2011-11, Vol.32 (11), p.1319-1325

2011

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Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

Annals of neurology, 2022-01, Vol.91 (1), p.117-130

2022

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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

American journal of human genetics, 2016-10, Vol.99 (4), p.860-876

2016

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TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

American journal of human genetics, 2015-08, Vol.97 (2), p.319-328

2015

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De novo mtDNA point mutations are common and have a low recurrence risk

Journal of medical genetics, 2017-02, Vol.54 (2), p.73

2017

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

American journal of human genetics, 2016-07, Vol.99 (1), p.246-246

2016

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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

EMBO molecular medicine, 2020-11, Vol.12 (11), p.e12619-n/a

2020

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Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Annals of neurology, 2016-11, Vol.80 (5), p.686-692

2016

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

Biochimica et biophysica acta, 2014-01, Vol.1842 (1), p.56-64

2014

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A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.935-939

2015

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The genetic basis of isolated mitochondrial complex II deficiency

Molecular genetics and metabolism, 2020-09, Vol.131 (1-2), p.53-65

2020

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The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines

The Journal of pathology, 2021-07, Vol.254 (4), p.430-442

2021

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Recent advances in understanding the molecular genetic basis of mitochondrial disease

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.36-50

2020

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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

American journal of human genetics, 2016-12, Vol.99 (6), p.1405-1405

2016

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Genomic Strategies in Mitochondrial Diagnostics

Methods in molecular biology (Clifton, N.J.), 2023, Vol.2615, p.397

2023

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Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

Molecular cell, 2016-08, Vol.63 (4), p.621-632

2016

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Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

JAMA : the journal of the American Medical Association, 2014-07, Vol.312 (1), p.68

2014

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Recent Advances in Mitochondrial Disease

The genetics and pathology of mitochondrial disease

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations

Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

De novo mtDNA point mutations are common and have a low recurrence risk

Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

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

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

The genetic basis of isolated mitochondrial complex II deficiency

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines

Recent advances in understanding the molecular genetic basis of mitochondrial disease

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Genomic Strategies in Mitochondrial Diagnostics

Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies

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