Myopathology of Adult and Paediatric Mitochondrial Diseases.

Sequence and organization of the human mitochondrial genome. Nature (1981) 57.39

Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat Genet (1998) 7.89

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med (1989) 4.87

Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol (1968) 4.22

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat Genet (1998) 3.79

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med (1999) 3.76

Diagnostic criteria for respiratory chain disorders in adults and children. Neurology (2002) 3.12

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS. Neurology (1963) 2.98

Mitochondrial disorders in the nervous system. Annu Rev Neurosci (2008) 2.93

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet (1999) 2.59

Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet (2012) 2.59

Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr (1997) 2.54

Autophagy deficiency leads to protection from obesity and insulin resistance by inducing Fgf21 as a mitokine. Nat Med (2012) 2.51

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36

Mitochondrial DNA mutations and human disease. Biochim Biophys Acta (2009) 2.24

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet (1994) 2.16

The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13

Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child (1998) 2.12

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11

Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle. Cell (1977) 2.09

Mitochondrial disease: a practical approach for primary care physicians. Pediatrics (2007) 2.06

Late-onset mitochondrial myopathy. Ann Neurol (1995) 1.98

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics (2004) 1.95

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle. Histochem J (1990) 1.89

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A (1989) 1.82

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol (1983) 1.82

Mitochondrial myopathy induces a starvation-like response. Hum Mol Genet (2010) 1.78

Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency. J Biol Chem (2003) 1.75

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res (2015) 1.73

The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. Ann Neurol (1999) 1.72

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology (2001) 1.68

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle. Am J Hum Genet (1997) 1.68

Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain (2008) 1.67

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. Hum Mol Genet (1999) 1.66

Relaxed replication of mtDNA: A model with implications for the expression of disease. Am J Hum Genet (1999) 1.65

Two childhood myopathies with abnormal mitochondria. I. Megaconial myopathy. II. Pleoconial myopathy. Brain (1966) 1.63

The diagnosis of mitochondrial muscle disease. Neuromuscul Disord (2004) 1.61

Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Neurology (1997) 1.58

Mitochondrial disease criteria: diagnostic applications in children. Neurology (2006) 1.58

Nitric oxide partitioning into mitochondrial membranes and the control of respiration at cytochrome c oxidase. Proc Natl Acad Sci U S A (2001) 1.53

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet (2009) 1.51

Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: analysis by laser-capture microdissection. Nucleic Acids Res (2001) 1.48

Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. J Neurol Sci (1990) 1.46

Mitochondrial encephalomyopathies: an update. Neuromuscul Disord (2005) 1.45

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology (2002) 1.43

Neuroimaging of mitochondrial disease. Mitochondrion (2008) 1.43

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. PLoS One (2016) 1.42

Mitochondrial diseases. Biochim Biophys Acta (2004) 1.39

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics (2013) 1.36

Inhibition of cytochrome c oxidase in turnover by nitric oxide: mechanism and implications for control of respiration. Biochem J (1995) 1.36

Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol (2008) 1.36

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene. Ann Neurol (2000) 1.35

Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly. Virchows Arch A Pathol Anat Histopathol (1993) 1.34

Human coenzyme Q10 deficiency. Neurochem Res (2006) 1.34

A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. Neuromuscul Disord (2009) 1.34

Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age. Neurobiol Aging (2001) 1.33

Mitochondrial DNA depletion causes morphological changes in the mitochondrial reticulum of cultured human cells. FEBS Lett (2000) 1.33

A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy. Hum Mol Genet (1996) 1.31

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30

Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol (1995) 1.27

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat Genet (1996) 1.27

Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect. J Clin Invest (1991) 1.26

Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett (1992) 1.26

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology (1985) 1.25

The expanding clinical spectrum of mitochondrial diseases. Brain Dev (1993) 1.24

Mutations causing mitochondrial disease: What is new and what challenges remain? Science (2015) 1.24

Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol (1996) 1.22

Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem (2010) 1.22

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16

Mitochondria-associated ER membranes in Alzheimer disease. Mol Cell Neurosci (2012) 1.16

Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing--a cytochemical-immunohistochemical study. Mutat Res (1992) 1.16

Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. Am J Med Genet A (2003) 1.13

The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett (1993) 1.13

Quantitative histochemical determination of succinic dehydrogenase activity in skeletal muscle fibres. Histochem J (1988) 1.11

Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation. Am J Med Genet A (2004) 1.11

Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord (2010) 1.11

The role of complex II in disease. Biochim Biophys Acta (2012) 1.10

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10

Diagnosis of mitochondrial myopathies. Mol Genet Metab (2013) 1.10

HUMAN MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA. Science (1964) 1.09

Mitochondrial DNA copy number threshold in mtDNA depletion myopathy. Neurology (2005) 1.09

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J Neurol Sci (1990) 1.08

A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis. Sci Rep (2015) 1.08

Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox". J Neurol Sci (2004) 1.07

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. J Med Genet (2004) 1.07

Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem (2007) 1.06

Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications. Ann Neurol (1993) 1.06

Light microscopic methods to visualize mitochondria on tissue sections. Methods (2008) 1.05

Neuropathology of mitochondrial diseases. Biosci Rep (2007) 1.05

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. BMC Genomics (2014) 1.04

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. J Med Genet (2012) 1.04

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype. Neurology (2011) 1.02

Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. Arch Neurol (2003) 1.02

Adult cases of mitochondrial DNA depletion due to TK2 defect: an expanding spectrum. Neurology (2012) 1.02

Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med (2009) 1.01

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. J Med Genet (2013) 1.01

Cytochrome oxidase immunohistochemistry: clues for genetic mechanisms. Brain (2000) 1.00

Succinate in dystrophic white matter: a proton magnetic resonance spectroscopy finding characteristic for complex II deficiency. Ann Neurol (2002) 1.00

Mitochondrial myopathies. Acta Physiol Scand (2001) 1.00