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

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

(2012) D. Ronchi et al.   BRAIN

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy

(2012) Massimiliano Filosto et al.   JOURNAL OF NEUROLOGY

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

(2012) Stefanie Bulst et al.   MOLECULAR GENETICS AND METABOLISM

Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum

(2012) A. Behin et al.   NEUROLOGY

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle

(2012) Emma L. Blakely et al.   NEUROMUSCULAR DISORDERS

Epilepsy in mitochondrial disorders

(2012) Josef Finsterer et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Mitochondrial Syndromes with Leukoencephalopathies

(2012) Lee-Jun Wong   SEMINARS IN NEUROLOGY

MR Imaging Findings in the Reticular Formation in Siblings withMPV17-Related Mitochondrial Depletion Syndrome

(2011) A.N. Merkle et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Pyruvate therapy for mitochondrial DNA depletion syndrome

(2011) Keiko Saito et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

(2011) H. Tyynismaa et al.   HUMAN MOLECULAR GENETICS

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

(2011) Sha Tang et al.   JOURNAL OF NEUROLOGY

Inherited mitochondrial neuropathies

(2011) Josef Finsterer   JOURNAL OF THE NEUROLOGICAL SCIENCES

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

(2011) Neil A. Hanchard et al.   MOLECULAR GENETICS AND METABOLISM

POLG-related disorders: Defects of the nuclear and mitochondrial genome interaction

(2011) M. Milone et al.   NEUROLOGY

RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions

(2011) C. Fratter et al.   NEUROLOGY

Mitochondrial DNA mutations and depletion in pediatric medicine

(2011) A. Spinazzola   Seminars in Fetal & Neonatal Medicine

Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach

(2010) J Halter et al.   BONE MARROW TRANSPLANTATION

Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion

(2010) Nicole Lesko et al.   NEUROMUSCULAR DISORDERS

Mitochondrial DNA depletion syndromes – Many genes, common mechanisms

(2010) Anu Suomalainen et al.   NEUROMUSCULAR DISORDERS

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

(2010) Ramon Martí et al.   PEDIATRIC RESEARCH

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

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

(2009) Henna Tyynismaa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Neurogastrointestinal Encephalopathy Due to Mutations in RRM2B

(2009) Aziz Shaibani et al.   ARCHIVES OF NEUROLOGY

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria

(2009) Elsebet Ostergaard et al.   EUROPEAN JOURNAL OF PEDIATRICS

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator

(2009) Cristina Dallabona et al.   HUMAN MOLECULAR GENETICS

Clinical and molecular features of mitochondrial DNA depletion syndromes

(2009) A. Spinazzola et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial disorders, cognitive impairment and dementia

(2009) Josef Finsterer   JOURNAL OF THE NEUROLOGICAL SCIENCES

Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children

(2009) Eva Morava et al.   MITOCHONDRION

Fluctuating liver functions in siblings with MPV17 mutations and possible improvement associated with dietary and pharmaceutical treatments targeting respiratory chain complex II

(2009) Shunsaku Kaji et al.   MOLECULAR GENETICS AND METABOLISM

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

(2009) Birgit Acham-Roschitz et al.   MOLECULAR GENETICS AND METABOLISM

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations

(2009) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion

(2009) Shulin Zhang et al.   MOLECULAR GENETICS AND METABOLISM

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease

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

Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations

(2009) James Collins et al.   NEUROMUSCULAR DISORDERS

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion

(2009) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

Gastrointestinal Dysmotility in Mitochondrial Neurogastrointestinal Encephalomyopathy Is Caused by Mitochondrial DNA Depletion

(2008) Carla Giordano et al.   AMERICAN JOURNAL OF PATHOLOGY

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation

(2008) N-C Lee et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome

(2008) Antonella Spinazzola et al.   ARCHIVES OF NEUROLOGY

Thymidine kinase 2 defects can cause multi-tissue mtDNA depletion syndrome

(2008) A. Gotz et al.   BRAIN

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Molecular and clinical genetics of mitochondrial diseases due toPOLGmutations

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

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

(2008) Rossella Parini et al.   JOURNAL OF HEPATOLOGY

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

(2008) R. Virgilio et al.   JOURNAL OF NEUROLOGY

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

(2008) David P. Dimmock et al.   LIVER TRANSPLANTATION

Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: Description of an alternative MPV17 spliced form

(2008) Aleix Navarro-Sastre et al.   MOLECULAR GENETICS AND METABOLISM

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

(2008) Tina D. Jeppesen et al.   NEUROMUSCULAR DISORDERS

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene

(2008) Belén Bornstein et al.   NEUROMUSCULAR DISORDERS

Novel mutations in the TK2 gene associated with fatal mitochondrial DNA depletion myopathy

(2008) Emma Blakely et al.   NEUROMUSCULAR DISORDERS

Ribonucleotide reduction is a cytosolic process in mammalian cells independently of DNA damage

(2008) G. Pontarin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA