Progressive Myoclonic Epilepsies - A Pragmatic Review.

EEG, clinical, and MRI features of status epilepticus associated with mitochondrial diseases.

Mitochondrial tRNA-Derived Diseases.

Sequential development of three syndromes in a patient with m.3243A>G mutation: a case report.

Electronic cigarette use linked to poor sleep quality: a cross-sectional nationwide population-based study in Korea.

Computational design of a high-precision mitochondrial DNA cytosine base editor.

Gut instinct: microbiome as a modifiable target in the management of neurologic symptoms in myoclonic epilepsy with ragged-red fibers (MERRF).

Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.

Peptide-mimetics derived from leucyl-tRNA synthetase are potential agents for the therapy of mt-tRNA related diseases.

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

A Review of the Advances in the Medical Management of Epilepsy Associated With Myoclonic Epilepsy With Ragged-Red Fibers (MERRF) Syndrome.

In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.

Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome.

Disease registries and rare disorders: The virtuous example of mitochondrial medicine.

LNC-ing Genetics in Mitochondrial Disease.

[Clinical characteristics of children with MT-TK gene m.8344A>G variation].

Myoclonic Epilepsy With Ragged Red Fiber Cardiomyopathy: A Case Report and Brief Review of Literature.

Eye closure sensitivity as a novel EEG marker of MERRF.

[Progressive myoclonic epilepsy: a retrospective study of newly-diagnosed adult patients from a single center].

Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease.

Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.

Mitochondrial impairment and synaptic dysfunction are associated with neurological defects in iPSCs-derived cortical neurons of MERRF patients.

Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases.

Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.

The Mitochondrial tRNASer(UCN) Gene: A Novel m.7484A>G Mutation Associated with Mitochondrial Encephalomyopathy and Literature Review.

[Epilepsy syndromes associated with hearing loss].

MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.

Young-Onset Dementia and Neurodegenerative Disorders of the Young With an Emphasis on Clinical Manifestations.

Mitochondrial Epilepsy, a Challenge for Neurologists.

Stroke-like Episodes in Inherited Neurometabolic Disorders.

Mitochondrial Dysfunction in Polycystic Ovary Syndrome.

Milder Phenotype of Homoplasmic Versus Heteroplasmic m.8344A>G Variant in the Same Family: A Case Report.

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys.

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

Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations.

Personalized Medicine in Mitochondrial Health and Disease: Molecular Basis of Therapeutic Approaches Based on Nutritional Supplements and Their Analogs.

Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

Cerebello-thalamofrontal dysconnectivity in paroxysmal kinesigenic dyskinesia: A resting-state fMRI study.

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.

Mitochondrial Neurodegeneration.

Mitochondrial Medicine in the COVID-19 Era.

Vaccine-Induced Immune Thrombotic Thrombocytopenia: First Case Report in South Korea.

Diagnosing Myoclonic Epilepsy With Ragged-Red Fibers Syndrome Requires Documentation of a Causative Mutation.

Altered trigeminothalamic spontaneous low-frequency oscillations in migraine without aura: a resting-state fMRI study.

Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.

Work-up of MERRF and MELAS fatalities requires autopsy of the brain and revision of intra-vitam investigations.

Mitochondrial Syndromes Revisited.

Lipomatosis and optic neuropathy clinches the diagnosis of myoclonic epilepsy with ragged red fibres (MERRF) syndrome.

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.

[Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases].

Perioperative Management of an Adult Patient With Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report.

The molecular pathology of pathogenic mitochondrial tRNA variants.

Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients' Brain in a Dish.

Ekbom Syndrome: Ataxia, Myoclonus, and Cervical Lipomas.

Clinical features of mtDNA-related syndromes in adulthood.

Long-term outcomes of two patients with progressive myoclonic epilepsy treated with vagus nerve stimulation therapy.

Diagnosing MERRF requires clinical and genetic evidence.

Photosensitive Epilepsy and Polycystic Ovary Syndrome as Manifestations of MERRF.

[Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes / myoclonus epilepsy with ragged-red fibers /Leigh overlap syndrome caused by mitochondrial DNA 8344A>G mutation].

Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations - A previously unreported association.

Should we investigate mitochondrial disorders in progressive adult-onset undetermined ataxias?

Two autopsy cases of mitochondrial disease (MELAS and MERRF) with special reference to the histological and immunohistochemical findings of the pancreatic islets.

Outcome of endoscopic lipoma resection in myoclonic epilepsy with ragged-red fibers syndrome may depend on the genotype.

"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation.

Ganglionopathies Associated with MERRF Syndrome: An Original Report.

Giant subcutaneous lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers syndrome: The first literature report of "laparoscopic" excision.

Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.

Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.

Teaching NeuroImages: Imaging phenotype of myoclonic epilepsy with ragged-red fibers.

Self-initiated lifestyle interventions lead to potential insight into an effective, alternative, non-surgical therapy for mitochondrial disease associated multiple symmetric lipomatosis.

Breaking a single hydrogen bond in the mitochondrial tRNAPhe -PheRS complex leads to phenotypic pleiotropy of human disease.

Phenotype and genotype determine the diagnosis of MERRF or MERRF plus.

Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome.

Effects of sleep duration and weekend catch-up sleep on falling injury in adolescents: a population-based study.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

A high prevalence of arterial hypertension in patients with mitochondrial diseases.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.

Is the MT-TN variant m.5703G>A truly causative for myoclonic epilepsy with ragged red fibers syndrome plus?

Phenotypic Diversity of Myoclonus Epilepsy Associated with Ragged-red Fibers with an 8344A>G mtDNA Mutation.

Lower urinary tract symptoms in male patients with stroke: A nationwide population-based study.

Evidence for laminar cortical necrosis as histological equivalent of a non-classical stroke-like lesion in an m.8344A>G carrier.

Multiple mtDNA deletions due to mitochondrion toxicity of anti-hepadnaviral drugs: Comments to the letter from J. Finsterer.

Pharmacotherapeutic management of epilepsy in MERRF syndrome.

Effect of arousal on sympathetic overactivity in patients with obstructive sleep apnea.

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

[Ultrastructural and clinical findings of mitochondrial encephalomyopathy:report of 27 cases].

Broadening the phenotype of m.5703G>A mutation in mitochondrial tRNAAsn gene from mitochondrial myopathy to myoclonic epilepsy with ragged red fibers syndrome.

Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.

Beneficiality of combined levetiracetam, clonazepam for myoclonus in MERRF requires further confirmation.

Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming.

Pathology of skeletal muscle fibers and small blood vessels in MERRF syndrome: an ultrastructural study.

Proximal Myopathy due to m.5835G>A Mutation in Mitochondrial MT-TY Gene.

MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis.

Robotic radical prostatectomy in a patient with prostate cancer and MERRF syndrome, a rare mitochondrial disorder affecting muscle fibers.

Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers.

Antimyoclonic Effect of Levetiracetam and Clonazepam Combined Treatment on Myoclonic Epilepsy with Ragged-Red Fiber Syndrome with m.8344A>G Mutation.

[Isolated myopathy due to the m.8344A>G variant is not unusual and may turn into multisystem disease over time].

Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation.

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis.

Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome.

Mutation m.15923A>G in the MT-TT gene causes mild myopathy - case report of an adult-onset phenotype.

Recent Advances in Mitochondria-Targeted Gene Delivery.

Inherited pathogenic mitochondrial DNA mutations and gastrointestinal stem cell populations.

The heart in m.3243A>G carriers.

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.

mitoTev-TALE: a monomeric DNA editing enzyme to reduce mutant mitochondrial DNA levels.

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

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers.

Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA.

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.

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

Small fibre neuropathy in mitochondrial diseases explored with sudoscan.

CO2-sensitive tRNA modification associated with human mitochondrial disease.

ATOH1/RFX1/RFX3 transcription factors facilitate the differentiation and characterisation of inner ear hair cell-like cells from patient-specific induced pluripotent stem cells harbouring A8344G mutation of mitochondrial DNA.

Involvement of the Spinal Cord in Mitochondrial Disorders.

A Klinefelter patient with an additional mitochondrial mutation: Implications for genotype-driven treatment and mitochondrial mutational load in different tissues and family members.

[Isolated girdle weakness: expansion of the phenotypic spectrum of the MERRF 8344A>G mutation of mitochondrial DNA].

MERRF Classification: Implications for Diagnosis and Clinical Trials.

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Promoter analysis and transcriptional regulation of human carbonic anhydrase VIII gene in a MERRF disease cell model.

Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome.

Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations.

Preferences of AAA/AAG codon recognition by modified nucleosides, τm5s2U34 and t6A37 present in tRNALys.

[Study of mitochondrial dysfunction using cytoplasmic hybrid].

Subcortical grey matter changes in juvenile myoclonic epilepsy.

Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study.

Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers.

Migraine in mitochondrial disorders: Prevalence and characteristics.

Management of epilepsy in MERRF syndrome.

Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease.

Mitochondrial Transfer from Wharton's Jelly Mesenchymal Stem Cell to MERRF Cybrid Reduces Oxidative Stress and Improves Mitochondrial Bioenergetics.

[A8344G mitochondrial DNA mutation observed in two generations].

Regional gray matter changes in shift workers: a voxel-based morphometry study.

Generation of MERRF patient-derived induced pluripotent stem cell line iMERRF-C7.

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

[Genetic system for maintaining the mitochondrial human genome in yeast Yarrowia lipolytica].

[A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1].

Myoclonus epilepsy in mitochondrial disorders.

Mitochondrial neuropathy: considerations on pathogenesis.

Suicidal ideation and attempts in patients with stroke: a population-based study.

Three families with 'de novo' m.3243A > G mutation.

Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.

Phenotypic spectrum of the m.8344A>G mutation.

Ophthalmological findings in 74 patients with mitochondrial disease.

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

The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

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

[A case of MELAS associated with histochemical findings of muscles characteristic of MERRF].

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.

Lactose-free diet inducing aseptic pancreatitis and myoclonic jerks in late-onset, putative MERRF syndrome.

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

[Myoclonus epilepsy with ragged-red fibers: a case report and literature review].

Volumetric and shape analysis of hippocampal subfields in unilateral mesial temporal lobe epilepsy with hippocampal atrophy.

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases.

A typical case of myoclonic epilepsy with ragged red fibers (MERRF) and the lessons learned.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Oxidative stress in inherited mitochondrial diseases.

Progressive Myoclonus Epilepsies.

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy.

Screening of mitochondrial mutations and insertion-deletion polymorphism in gestational diabetes mellitus in the Asian Indian population.

"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.

Clinical manifestation of mitochondrial diseases.