Mitochondrial disease: genetics and management

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

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Syndromic parkinsonism and dementia associated withOPA1missense mutations

(2015) Valerio Carelli et al.   ANNALS OF NEUROLOGY

Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episode Syndrome Presenting with Prolonged Visual Aura

(2015) Ileok Jung et al.   Journal of Clinical Neurology

A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family

(2015) K. E. Ahmad et al.   JOURNAL OF NEUROLOGY

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

(2015) Michela Catteruccia et al.   JOURNAL OF NEUROLOGY

SPG7 mutations are a common cause of undiagnosed ataxia

(2015) G. Pfeffer et al.   NEUROLOGY

Mitochondrial Donation — How Many Women Could Benefit?

(2015) Gráinne S. Gorman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

(2014) Gerald Pfeffer et al.   BRAIN

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

(2014) L. van Berge et al.   BRAIN

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

(2014) Alejandro Horga et al.   BRAIN

Myotonic dystrophy: time for evidence-based therapy

(2014) Perry Elliott   EUROPEAN HEART JOURNAL

A national perspective on prenatal testing for mitochondrial disease

(2014) Victoria Nesbitt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation

(2014) Pankaj Prasun et al.   JOURNAL OF NEUROLOGY

Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-like Episodes (MELAS) May Respond to Adjunctive Ketogenic Diet

(2014) Claude Steriade et al.   PEDIATRIC NEUROLOGY

POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome

(2013) Antonella Cheldi et al.   BMC Neurology

Mitochondrial genetics

(2013) P. F. Chinnery et al.   BRITISH MEDICAL BULLETIN

Cardiomyopathies due to homoplasmic mitochondrial tRNA mutations: morphologic and molecular features

(2013) Carla Giordano et al.   HUMAN PATHOLOGY

MELAS syndrome diagnosed in ICU in a 56-year-old patient presenting with status epilepticus

(2013) Charikleia S. Vrettou et al.   INTENSIVE CARE MEDICINE

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

(2013) Suzanne C E H Sallevelt et al.   JOURNAL OF MEDICAL GENETICS

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

(2013) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Endocrine disorders in mitochondrial disease

(2013) Andrew M. Schaefer et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

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

(2013) M. Mancuso et al.   NEUROLOGY

Clinical features of MS associated with Leber hereditary optic neuropathy mtDNA mutations

(2013) G. Pfeffer et al.   NEUROLOGY

Late-onset respiratory failure due to TK2 mutations causing multiple mtDNA deletions

(2013) C. L. Alston et al.   NEUROLOGY

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

(2013) Ayman W. El-Hattab et al.   Neurotherapeutics

Heterogeneity of Coenzyme Q10Deficiency

(2012) Valentina Emmanuele et al.   ARCHIVES OF NEUROLOGY

Effect of EPI-743 on the Clinical Course of the Mitochondrial Disease Leber Hereditary Optic Neuropathy

(2012) Alfredo A. Sadun   ARCHIVES OF NEUROLOGY

Leukoencephalopathy with thalamus and brainstem involvement and high lactate ‘LTBL’ caused by EARS2 mutations

(2012) Marjan E. Steenweg et al.   BRAIN

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

(2012) VICTORIA NESBITT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mitochondrial diseases and epilepsy

(2012) Laurence A. Bindoff et al.   EPILEPSIA

Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

(2012) M. G. D. Bates et al.   EUROPEAN HEART JOURNAL

Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder

(2012) Nathan R. Treff et al.   FERTILITY AND STERILITY

Clinical and biochemical improvement following HSCT in a patient with MNGIE: 1-year follow-up

(2012) F. Sicurelli et al.   JOURNAL OF NEUROLOGY

Mitochondrial diseases

(2012) Anthony HV Schapira   LANCET

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

Cardiac screening investigations in adult-onset progressive external ophthalmoplegia patients

(2012) Gerald Pfeffer et al.   MUSCLE & NERVE

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases

(2012) Yusuke Sekino   WORLD JOURNAL OF GASTROENTEROLOGY

Mechanisms of mitochondrial diseases

(2011) Emil Ylikallio et al.   ANNALS OF MEDICINE

Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

(2011) Nichola Z. Lax et al.   BRAIN

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Charcot–Marie–Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential

(2011) Rebecca Noack et al.   HUMAN MOLECULAR GENETICS

Auditory function in individuals within Leber’s hereditary optic neuropathy pedigrees

(2011) Gary Rance et al.   JOURNAL OF NEUROLOGY

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations

(2011) Sha Tang et al.   JOURNAL OF NEUROLOGY

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

(2011) P. Kaufmann et al.   NEUROLOGY

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

(2011) M. Zimon et al.   NEUROLOGY

Multi-system neurological disease is common in patients with OPA1 mutations

(2010) P. Yu-Wai-Man et al.   BRAIN

Recent Advances in the Genetics of Mitochondrial Encephalopathies

(2010) Elena J. Tucker et al.   Current Neurology and Neuroscience Reports

Polymerase γ Gene POLG determines the risk of sodium valproate-induced liver toxicity

(2010) Joanna D. Stewart et al.   HEPATOLOGY

Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

(2010) Paulien Smits et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Late-onset Leber hereditary optic neuropathy mimicking Susac’s syndrome

(2010) Stefano Zoccolella et al.   JOURNAL OF NEUROLOGY

Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations

(2010) Nora A. Visser et al.   JOURNAL OF NEUROLOGY

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease

(2010) Lyndsey Craven et al.   NATURE

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

(2009) Oswald Hasselmann et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

Prevalence of Mitochondrial 1555A→G Mutation in European Children

(2009) Maria Bitner-Glindzicz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ketogenic Diet in Alpers-Huttenlocher Syndrome

(2009) Charuta N. Joshi et al.   PEDIATRIC NEUROLOGY

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

(2008) B. A. Engelsen et al.   BRAIN

Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy

(2008) Tomohiro Chiyonobu et al.   BRAIN & DEVELOPMENT

Frontalis sling operation using silicone rod for the correction of ptosis in chronic progressive external ophthalmoplegia

(2008) J Ahn et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

The Mitochondrial Proteome: From Inventory to Function

(2008) Chris Meisinger et al.   CELL

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

(2008) C. Verny et al.   DIABETES & METABOLISM

Ketamine successfully terminates malignant status epilepticus

(2008) Harald Prüss et al.   EPILEPSY RESEARCH

GASTROINTESTINAL TRACT INVOLVEMENT ASSOCIATED WITH THE 3243A>G MITOCHONDRIAL DNA MUTATION

(2008) J. Betts et al.   NEUROLOGY

Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus

(2008) C. L. Morgia et al.   NEUROLOGY