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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Journal of neurology, 2016-05, Vol.263 (5), p.961-972

2016

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Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation

Internal Medicine, 2018/12/01, Vol.57(23), pp.3439-3443

2018

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The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study

International journal of molecular sciences, 2018-06, Vol.19 (7), p.1825

2018

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P 166 - Ultrastructural Assessment of Mitochondrial Network in the Cultured Skin Fibroblasts from Patients Harboring tRNA Mutations

Free radical biology & medicine, 2017-07, Vol.108, p.S74-S74

2017

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Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus

Neuropathology, 2019-06, Vol.39 (3), p.212-217

2019

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AMPK-mediated increase of glycolysis as an adaptive response to oxidative stress in human cells: Implication of the cell survival in mitochondrial diseases

Biochimica et biophysica acta, 2012-02, Vol.1822 (2), p.233-247

2012

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When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Arquivos de neuro-psiquiatria, 2014-10, Vol.72 (10), p.803-811

2014

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Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas

Annals of neurology, 2021-03, Vol.89 (3), p.623-624

2021

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A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

Neurology, 2014-12, Vol.83 (23), p.2183-2187

2014

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Myoclonus epilepsy in mitochondrial disorders

Epileptic disorders, 2016-09, Vol.18 (s2), p.S94-S102

2016

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Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

Neurotherapeutics, 2012-04, Vol.9 (2), p.446-463

2012

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Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

Internal Medicine, 2022/02/15, Vol.61(4), pp.547-552

2022

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The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

Kidney international, 2015-03, Vol.87 (3), p.610-622

2015

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Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery

Cytotherapy (Oxford, England), 2013-12, Vol.15 (12), p.1580-1596

2013

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Management of epilepsy in MERRF syndrome

Seizure (London, England), 2017-08, Vol.50, p.166-170

2017

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Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs

Wiley interdisciplinary reviews. RNA, 2011-05, Vol.2 (3), p.376-386

2011

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“Myo-cardiomyopathy” is commonly associated with the A8344G “MERRF” mutation

Journal of neurology, 2015-03, Vol.262 (3), p.701-710

2015

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Mitochondrial DNA Mutation-Elicited Oxidative Stress, Oxidative Damage, and Altered Gene Expression in Cultured Cells of Patients with MERRF Syndrome

Molecular neurobiology, 2010-06, Vol.41 (2-3), p.256-266

2010

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Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome

Scientific reports, 2016-03, Vol.6 (1), p.23661-23661, Article 23661

2016

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Rapid Progression to Brainstem Encephalitis Caused by Enterovirus 71 Without Throat and Skin Lesions After a One-Day Fever

Pediatric infection & vaccine, 2023-08, Vol.30 (2), p.91

2023

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A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

Genes, 2022-07, Vol.13 (7), p.1245

2022

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Neuromuscular and Systemic Presentations in Adults: diagnoses beyond MERRF and MELAS

Neurotherapeutics, 2013-04, Vol.10 (2), p.227-242

Cohen, Bruce H.

2013

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Rapid Progression to Brainstem Encephalitis Caused by Enterovirus 71 Without Throat and Skin Lesions After a One-Day Fever

Pediatric infection & vaccine, 2023-08, Vol.30 (2), p.91-96

2023

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Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

Human molecular genetics, 2016-03, Vol.25 (5), p.903-915

2016

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Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation

The Bacterial Protein CNF1 as a Potential Therapeutic Strategy against Mitochondrial Diseases: A Pilot Study

P 166 - Ultrastructural Assessment of Mitochondrial Network in the Cultured Skin Fibroblasts from Patients Harboring tRNA Mutations

Autopsied case with MERRF/MELAS overlap syndrome accompanied by stroke‐like episodes localized to the precentral gyrus

AMPK-mediated increase of glycolysis as an adaptive response to oxidative stress in human cells: Implication of the cell survival in mitochondrial diseases

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?

Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

Myoclonus epilepsy in mitochondrial disorders

Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery

Management of epilepsy in MERRF syndrome

Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAs

“Myo-cardiomyopathy” is commonly associated with the A8344G “MERRF” mutation

Mitochondrial DNA Mutation-Elicited Oxidative Stress, Oxidative Damage, and Altered Gene Expression in Cultured Cells of Patients with MERRF Syndrome

Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome

Rapid Progression to Brainstem Encephalitis Caused by Enterovirus 71 Without Throat and Skin Lesions After a One-Day Fever

A Novel MTTK Gene Variant m.8315A>C as a Cause of MERRF Syndrome

Neuromuscular and Systemic Presentations in Adults: diagnoses beyond MERRF and MELAS

Rapid Progression to Brainstem Encephalitis Caused by Enterovirus 71 Without Throat and Skin Lesions After a One-Day Fever

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

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