POLG-related disorders and their neurological manifestations

Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA

(2018) Thomas J. Nicholls et al.   MOLECULAR CELL

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

(2017) Omar Hikmat et al.   GENETICS IN MEDICINE

Synergistic Effects of thein cisT251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations

(2017) Karen L. DeBalsi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The presence of anaemia negatively influences survival in patients with POLG disease

(2017) Omar Hikmat et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Revisiting mitochondrial ocular myopathies: a study from the Italian Network

(2017) D. Orsucci et al.   JOURNAL OF NEUROLOGY

Distinctive cerebral neuropathology in an adult case of SANDO syndrome

(2017) Daniel Kirschenbaum et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Epilepsy due to mutations in the mitochondrial polymerase gamma(POLG)gene: A clinical and molecular genetic review

(2016) Maria-Eleni Anagnostou et al.   EPILEPSIA

The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome

(2016) Marta Kanabus et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

(2016) Patrick McKiernan et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease

(2016) Manoj P. Menezes et al.   MITOCHONDRION

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity

(2016) Charalampos Tzoulis et al.   MITOCHONDRION

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

(2016) Ashlee R. Stiles et al.   MOLECULAR GENETICS AND METABOLISM

Solid organ transplantation in primary mitochondrial disease: Proceed with caution

(2016) Sumit Parikh et al.   MOLECULAR GENETICS AND METABOLISM

“Mitochondrial neuropathies”: A survey from the large cohort of the Italian Network

(2016) Michelangelo Mancuso et al.   NEUROMUSCULAR DISORDERS

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

(2016) Sanjeev Rajakulendran et al.   PLoS One

Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease

(2016) Mika H. Martikainen et al.   JAMA Neurology

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

(2015) Aurelio Reyes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Epilepsy in adults with mitochondrial disease: A cohort study

(2015) Roger G. Whittaker et al.   ANNALS OF NEUROLOGY

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

(2015) Shuichi Yatsuga et al.   ANNALS OF NEUROLOGY

Seizure control by decanoic acid through direct AMPA receptor inhibition

(2015) Pishan Chang et al.   BRAIN

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

(2015) Arnaud Besse et al.   Cell Metabolism

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation

(2015) Nicolas Nicastro et al.   CEREBELLUM

Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicase

(2015) M. R. Szymanski et al.   EMBO JOURNAL

POLG2disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity

(2015) Matthew J. Young et al.   HUMAN MOLECULAR GENETICS

Combined use ofSaccharomyces cerevisiae,Caenorhabditis elegansand patient fibroblasts leads to the identification of clofilium tosylate as a potential therapeutic chemical against POLG-related diseases

(2015) Laras Pitayu et al.   HUMAN MOLECULAR GENETICS

Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability

(2015) Naghia Ahmed et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

(2015) Christian Staufner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review

(2015) Carmela Scuderi et al.   NEUROMUSCULAR DISORDERS

Mitochondrial genome maintenance in health and disease

(2014) William C. Copeland et al.   DNA REPAIR

The ketogenic diet component decanoic acid increases mitochondrial citrate synthase and complex I activity in neuronal cells

(2014) Sean David Hughes et al.   JOURNAL OF NEUROCHEMISTRY

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

(2014) Pankaj Prasun et al.   JOURNAL OF NEUROLOGY

SANDO syndrome in a cohort of 107 patients with CPEO and mitochondrial DNA deletions

(2014) Frank Hanisch et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Acute liver failure after valproate exposure: Liver transplantation may be indicated beyond childhood

(2014) Patrick McKiernan   LIVER TRANSPLANTATION

Acute liver failure after valproate exposure in patients withPOLG1mutations and the prognosis after liver transplantation

(2014) Johanna Hynynen et al.   LIVER TRANSPLANTATION

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

(2013) Penelope E. Bonnen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability

(2013) Dario Ronchi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations

(2013) Charalampos Tzoulis et al.   BRAIN

Prospective study ofPOLGmutations presenting in children with intractable epilepsy: Prevalence and clinical features

(2013) Johanna Uusimaa et al.   EPILEPSIA

Gastrointestinal and hepatic manifestations of mitochondrial disorders

(2013) Shamima Rahman   JOURNAL OF INHERITED METABOLIC DISEASE

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

(2013) Cornelia Kornblum et al.   NATURE GENETICS

Mitochondria as a Target of Environmental Toxicants

(2013) Joel N. Meyer et al.   TOXICOLOGICAL SCIENCES

Ultra-Sensitive Sequencing Reveals an Age-Related Increase in Somatic Mitochondrial Mutations That Are Inconsistent with Oxidative Damage

(2013) Scott R. Kennedy et al.   PLoS Genetics

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

(2012) Vivienne C. M. Neeve et al.   BRAIN

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

(2012) Ivano Di Meo et al.   EMBO Molecular Medicine

Mitochondrial diseases and epilepsy

(2012) Laurence A. Bindoff et al.   EPILEPSIA

POLG mutations and age at menopause

(2012) A. J. Duncan et al.   HUMAN REPRODUCTION

POLGmutations in Australian patients with mitochondrial disease

(2012) P. Woodbridge et al.   INTERNAL MEDICINE JOURNAL

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

(2012) Robert D S Pitceathly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy 'plus' phenotype

(2011) C. Rouzier et al.   BRAIN

Palliative functional hemispherectomy for treatment of refractory status epilepticus associated with Alpers' disease

(2011) Svetlana Lupashko et al.   CHILDS NERVOUS SYSTEM

New Insights in Drug-Induced Mitochondrial Toxicity

(2011) Sashi Nadanaciva et al.   CURRENT PHARMACEUTICAL DESIGN

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE

(2011) J Torres-Torronteras et al.   GENE THERAPY

Alpers Syndrome

(2011) Aneal Khan et al.   JOURNAL OF CHILD NEUROLOGY

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

(2011) Sha Tang et al.   JOURNAL OF NEUROLOGY

Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia

(2011) Eino J.H. Palin et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations

(2011) Claire Hinnell et al.   MOVEMENT DISORDERS

Clinical Reasoning: A 10-month-old boy with myoclonic status epilepticus

(2011) R. Dhamija et al.   NEUROLOGY

POLG1 manifestations in childhood

(2011) P. Isohanni et al.   NEUROLOGY

Successful treatment of parainfectious encephalitis with ivIG in a boy with FraX

(2011) J Spiegler et al.   NEUROPEDIATRICS

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ

(2011) Liliya Euro et al.   NUCLEIC ACIDS RESEARCH

Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA

(2011) C. Kukat et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Is It ADEM, POLG, or Both?

(2010) Mandy O. Harris et al.   ARCHIVES OF NEUROLOGY

POLG1 Variations Presenting as Multiple Sclerosis

(2010) Andoni Echaniz-Laguna et al.   ARCHIVES OF NEUROLOGY

Polymerase gamma disease through the ages

(2010) Russell P. Saneto et al.   Developmental Disabilities Research Reviews

Ketogenic diet slows down mitochondrial myopathy progression in mice

(2010) Sofia Ahola-Erkkilä et al.   HUMAN MOLECULAR GENETICS

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

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

Valproic Acid-Associated Acute Liver Failure in Children: Case Report and Analysis of Liver Transplantation Outcomes in the United States

(2010) Ayse L. Mindikoglu et al.   JOURNAL OF PEDIATRICS

POLG, but notPEO1, is a frequent cause of cerebellar ataxia in Central Europe

(2010) Julia Schicks et al.   MOVEMENT DISORDERS

Complex hyperkinetic movement disorders associated with POLG mutations

(2010) Matthis Synofzik et al.   MOVEMENT DISORDERS

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

JUVENILE-ONSET ALPERS SYNDROME: INTERPRETING MRI FINDINGS

(2010) N. A. Visser et al.   NEUROLOGY

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

(2010) Russell P. Saneto et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The Mitochondrial Disulfide Relay System Protein GFER Is Mutated in Autosomal-Recessive Myopathy with Cataract and Combined Respiratory-Chain Deficiency

(2009) Alessio Di Fonzo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations

(2009) Young-Sam Lee et al.   CELL

In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes

(2009) S. Bulst et al.   HUMAN MOLECULAR GENETICS

Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

(2009) Rajesh Kasiviswanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

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

FATAL CONGENITAL MYOPATHY AND GASTROINTESTINAL PSEUDO-OBSTRUCTION DUE TO POLG1 MUTATIONS

(2009) C. Giordano et al.   NEUROLOGY

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ ( POLG1 )

(2008) R McFarland et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Juvenile Alpers Disease

(2008) Esko Wiltshire et al.   ARCHIVES OF NEUROLOGY

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

(2008) B. A. Engelsen et al.   BRAIN

Homozygous W748S mutation in thePOLG1gene in patients with juvenile-onset Alpers syndrome and status epilepticus

(2008) Johanna Uusimaa et al.   EPILEPSIA

Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features

(2008) Nicole I. Wolf et al.   EPILEPSIA

Ketamine successfully terminates malignant status epilepticus

(2008) Harald Prüss et al.   EPILEPSY RESEARCH

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

(2008) Lee-Jun C. Wong et al.   HUMAN MUTATION

Palatal tremor and facial dyskinesia in a patient withPOLG1mutation

(2008) Krisztina K. Johansen et al.   MOVEMENT DISORDERS

DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice

(2008) Marc Vermulst et al.   NATURE GENETICS

OPA1 IN MULTIPLE MITOCHONDRIAL DNA DELETION DISORDERS

(2008) J. D. Stewart et al.   NEUROLOGY