Myopathology of Adult and Paediatric Mitochondrial Diseases

Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

(2017) Alessia Nasca et al.   HUMAN MUTATION

Skeletal muscle imaging in neuromuscular disease

(2016) Neil G. Simon et al.   JOURNAL OF CLINICAL NEUROSCIENCE

The genetics and pathology of mitochondrial disease

(2016) Charlotte L Alston et al.   JOURNAL OF PATHOLOGY

Neuromuscular Manifestations in Mitochondrial Diseases in Children

(2016) Andrés Nascimento et al.   Seminars in Pediatric Neurology

The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy

(2016) Amy E. Vincent et al.   Scientific Reports

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

(2016) Raquel Montero et al.   PLoS One

Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders

(2015) Shuichi Yatsuga et al.   ANNALS OF NEUROLOGY

Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR–YY1–PGC1α pathway

(2015) Kunqian Ji et al.   FREE RADICAL BIOLOGY AND MEDICINE

Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease

(2015) Veronika Boczonadi et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Diagnostic evaluation of rhabdomyolysis

(2015) Jessica R. Nance et al.   MUSCLE & NERVE

Mitochondrial and inflammatory changes in sporadic inclusion body myositis

(2015) Karolina A. Rygiel et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis

(2015) Mariana C. Rocha et al.   Scientific Reports

Common recessive limb girdle muscular dystrophies differential diagnosis: why and how?

(2014) Ana Cotta et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies

(2014) Susana Kalko et al.   BMC GENOMICS

Sporadic inclusion body myositis

(2014) Pedro M. Machado et al.   CURRENT OPINION IN NEUROLOGY

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency

(2014) A. Ghosh et al.   HUMAN MOLECULAR GENETICS

Reversible infantile mitochondrial diseases

(2014) Veronika Boczonadi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Frequencies of myohistological mitochondrial changes in patients with mitochondrial DNA deletions and the common m.3243A>G point mutation

(2014) Charlotte Maria Zierz et al.   NEUROPATHOLOGY

Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β

(2013) Satomi Mitsuhashi et al.   CURRENT OPINION IN NEUROLOGY

Mutations inSDHDlead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

(2013) Christopher Benjamin Jackson et al.   JOURNAL OF MEDICAL GENETICS

Diagnosis of mitochondrial myopathies

(2013) Margherita Milone et al.   MOLECULAR GENETICS AND METABOLISM

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

(2013) Clare V Logan et al.   NATURE GENETICS

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

(2013) Cornelia Kornblum et al.   NATURE GENETICS

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

TK2 mutation presenting as indolent myopathy

(2013) C. Paradas et al.   NEUROLOGY

Recurrent myoglobinuria and deranged acylcarnitines due to a mutation in the mtDNA MT-CO2 gene

(2013) C. R. Vissing 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

Mitochondrial Disease in Childhood: Nuclear Encoded

(2013) Amy C. Goldstein et al.   Neurotherapeutics

Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase Beta Gene

(2012) Arun A. Kalra   ARCHIVES OF NEUROLOGY

The role of complex II in disease

(2012) Attje S. Hoekstra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery

(2012) Tanja Taivassalo et al.   BRAIN

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

(2012) D. Ronchi et al.   BRAIN

Microangiopathy in the cerebellum of patients with mitochondrial DNA disease

(2012) Nichola Z. Lax et al.   BRAIN

Importance of muscle light microscopic mitochondrial subsarcolemmal aggregates in the diagnosis of respiratory chain deficiency

(2012) Lili Miles et al.   HUMAN PATHOLOGY

Recessive germlineSDHAandSDHBmutations causing leukodystrophy and isolated mitochondrial complex II deficiency

(2012) Charlotte L Alston et al.   JOURNAL OF MEDICAL GENETICS

Mitochondria-associated ER membranes in Alzheimer disease

(2012) Eric A. Schon et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Autophagy deficiency leads to protection from obesity and insulin resistance by inducing Fgf21 as a mitokine

(2012) Kook Hwan Kim et al.   NATURE MEDICINE

Human mitochondrial DNA: roles of inherited and somatic mutations

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

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

(2012) A. Behin et al.   NEUROLOGY

Cytochrome c oxidase-intermediate fibres: Importance in understanding the pathogenesis and treatment of mitochondrial myopathy

(2012) Julie L. Murphy et al.   NEUROMUSCULAR DISORDERS

Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: “Mitochondrial angiopathy”

(2012) Harvey B. Sarnat et al.   NEUROPATHOLOGY

Neuroimaging in Mitochondrial Disorders

(2012) Andrea L. Gropman   Neurotherapeutics

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

(2011) Merei Huigsloot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Infantile cardioencephalopathy due to a COX15 gene defect: Report and review

(2011) Majid Alfadhel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Diagnosis and treatment of mitochondrial myopathies

(2011) Gerald Pfeffer et al.   ANNALS OF MEDICINE

Update on Toxic Myopathies

(2011) F. L. Mastaglia et al.   Current Neurology and Neuroscience Reports

Atypical clinical presentations of the A3243G mutation, usually associated with MELAS

(2011) S. Blum et al.   INTERNAL MEDICINE JOURNAL

Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation

(2011) Valentina Emmanuele 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

Quantification of changes in muscle from individuals with and without mitochondrial disease

(2011) Kerry Sleigh et al.   MUSCLE & NERVE

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

(2011) P. Kaufmann et al.   NEUROLOGY

Neonatal muscular manifestations in mitochondrial disorders

(2011) Már Tulinius et al.   Seminars in Fetal & Neonatal Medicine

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

(2011) Jaime M. Ross   Jove-Journal of Visualized Experiments

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy

(2010) Petter S. Sanaker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome

(2010) D. Dimmock et al.   CLINICAL CHEMISTRY

Genetic bases of mitochondrial respiratory chain disorders

(2010) Agnès Rötig   DIABETES & METABOLISM

Mutational analysis of whole mitochondrial DNA in patients with MELAS and MERRF diseases

(2010) Byung-Ok Choi et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Mitochondrial myopathy induces a starvation-like response

(2010) Henna Tyynismaa et al.   HUMAN MOLECULAR GENETICS

Novel single base pair COX III subunit deletion of mitochondrial DNA associated with rhabdomyolysis

(2010) Rosetta Marotta et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Current molecular diagnostic algorithm for mitochondrial disorders

(2010) Lee-Jun C. Wong et al.   MOLECULAR GENETICS AND METABOLISM

Disorders of muscle lipid metabolism: Diagnostic and therapeutic challenges

(2010) Pascal Laforêt et al.   NEUROMUSCULAR DISORDERS

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

(2009) R. Horvath et al.   BRAIN

Batteries not included: diagnosis and management of mitochondrial disease

(2009) R. McFarland et al.   JOURNAL OF INTERNAL MEDICINE

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

(2009) Eva Morava et al.   MITOCHONDRION

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

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

(2009) Gittan Kollberg et al.   NEUROMUSCULAR DISORDERS

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays

(2008) J.H. Willis et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Resistance training in patients with single, large-scale deletions of mitochondrial DNA

(2008) J. L. Murphy et al.   BRAIN

Light microscopic methods to visualize mitochondria on tissue sections

(2008) Kurenai Tanji et al.   METHODS

Neuroimaging of mitochondrial disease

(2008) Russell P. Saneto et al.   MITOCHONDRION

The in-depth evaluation of suspected mitochondrial disease

(2008) Richard H. Haas et al.   MOLECULAR GENETICS AND METABOLISM

Presentation and Diagnosis of Mitochondrial Disorders in Children

(2008) Mary Kay Koenig   PEDIATRIC NEUROLOGY