Salvatore DiMauro

Salvatore DiMauro's AcademicInfluence.com Rankings

Salvatore DiMauro

Medical

#498

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#676

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Neurology

#30

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#62

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Salvatore DiMauro

Philosophy

#2649

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#4459

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#710

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#1222

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Medical
Philosophy

Salvatore DiMauro's Degrees

Doctorate Medicine University of Padua

Why Is Salvatore DiMauro Influential?

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According to Wikipedia, Salvatore DiMauro, M.D., was born in Verona, Italy, November 14, 1939, graduated in medicine from the University of Padua in 1963 and completed his residency in neurology in 1966. He then completed a postdoctoral fellowship in the Department of Neurology at the University of Pennsylvania. His research focuses on genetic errors of energy metabolism and he defines disease entities using both biochemical and molecular approaches. As an "enzyme defect hunter", DiMauro has documented the molecular basis of many enzyme deficiencies, including carnitine palmitoyltransferase deficiency, the first error of fatty acid oxidation to be recognized in humans. With colleagues at the University of Pennsylvania in the 1970s, DiMauro studied the second patient ever with Luft's disease, the prototypical mitochondrial disease. He is a Professor of Neurology at Columbia University, director of the H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Associate Chair of Related Diseases for Laboratory Research and Training. He is a trustee on the United Mitochondrial Disease Foundation. Prof. DiMauro has scores of publications. He also has several books to his credit. His last book is titled Mitochondrial Medicine and was published in 2006.

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Salvatore DiMauro's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mitochondrial respiratory-chain diseases. (2003) (1494)
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome (1984) (1125)
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. (1989) (963)
Mitochondrial diseases. (1989) (868)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) (2000) (857)
The genetics and pathology of oxidative phosphorylation (2001) (668)
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region (1989) (632)
Human mitochondrial DNA: roles of inherited and somatic mutations (2012) (625)
Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface (1988) (604)
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. (1991) (594)
Mitochondrial diseases (2016) (588)
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene (1999) (565)
Mitochondrial DNA and disease (2005) (546)
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. (1989) (546)
Mitochondrial disorders in the nervous system. (2008) (528)
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy (1991) (513)
Inclusion body myositis and myopathies (1995) (482)
MELAS: Clinical features, biochemistry, and molecular genetics (1992) (481)
Deletions of mitochondrial DNA in Kearns‐Sayre syndrome (1988) (450)
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria (1973) (440)
Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing (2012) (435)
Mitochondrial DNA Mutations and Pathogenesis (1997) (432)
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. (1999) (410)
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion (2006) (397)
Cytochrome c oxidase deficiency in leigh syndrome (1987) (393)
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society (2014) (376)
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. (2006) (364)
Lysosomal glycogen storage disease with normal acid maltase (1981) (353)
MELAS: An original case and clinical criteria for diagnosis (1992) (339)
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. (1990) (330)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary (2006) (329)
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations (2000) (318)
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. (2006) (316)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (1994) (311)
Lumping or splitting? “ophthalmoplegia‐plus” or kearns‐sayre syndrome? (1977) (310)
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. (1994) (306)
The clinical maze of mitochondrial neurology (2013) (298)
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. (2008) (286)
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. (2007) (282)
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. (1992) (273)
Mitochondrial encephalomyopathies. (1989) (268)
Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome (2002) (254)
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. (1992) (245)
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). (1992) (244)
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome (1993) (244)
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency (2001) (240)
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. (2003) (234)
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA (1993) (231)
Early‐onset familial parkinsonism due to POLG mutations (2006) (230)
Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot? (1993) (229)
Atorvastatin decreases the coenzyme Q10 level in the blood of patients at risk for cardiovascular disease and stroke. (2004) (223)
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. (1989) (218)
Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. (1982) (218)
Clinicopathological features of genetically confirmed Danon disease (2002) (214)
Dichloroacetate causes toxic neuropathy in MELAS (2006) (211)
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA (1992) (208)
Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”) (1993) (201)
Risk of developing a mitochondrial DNA deletion disorder (2004) (200)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease (2013) (195)
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency (1997) (194)
Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993. (1999) (193)
Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects (2001) (191)
Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome‐c‐oxidase deficiency (1980) (191)
Cerebellar ataxia and coenzyme Q10 deficiency (2003) (189)
Impaired Skin Fibroblast Carnitine Uptake in Primary Systemic Carnitine Deficiency Manifested by Childhood Carnitine-Responsive Cardiomyopathy (1990) (187)
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency (1983) (186)
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. (2012) (185)
A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy (1994) (183)
Mitochondrial DNA mutations in human disease. (2001) (181)
Phospholipid abnormalities in children with Barth syndrome. (2003) (179)
Mitochondrial involvement in Alzheimer's disease. (1999) (178)
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). (1993) (178)
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition (2005) (177)
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis (1995) (176)
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). (1996) (175)
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene (1999) (172)
Human Coenzyme Q10 Deficiency (2006) (172)
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency (2001) (167)
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation (2005) (167)
Fatal infantile cytochrome c oxidase deficiency (1985) (165)
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. (2003) (165)
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. (1994) (165)
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions (1992) (164)
A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues. (1989) (164)
Muscle coenzyme Q10 level in statin-related myopathy. (2005) (164)
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. (1997) (162)
A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy (2000) (161)
Widespread tissue distribution of mitochondrial DNA deletions in Kearns‐Sayre syndrome (1990) (158)
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. (2008) (158)
Mitochondrial DNA depletion and dGK gene mutations (2002) (157)
Genetic heterogeneity in leigh syndrome (1996) (156)
Mitochondrial abnormalities in temporal lobe of autistic brain (2013) (156)
Mitochondrial dysfunction in mut methylmalonic acidemia (2009) (155)
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. (2006) (154)
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency (2008) (154)
Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy (1996) (154)
Debrancher deficiency: Neuromuscular disorder in 5 adults (1979) (154)
Mitochondria in neuromuscular disorders. (1998) (153)
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. (1999) (149)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE (2006) (149)
A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. (1975) (149)
A Missense Mutation in the Mitochondrial Cytochrome b Gene in a Revisited Case with Histiocytoid Cardiomyopathy (2000) (148)
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene (1995) (148)
Myoadenylate deaminase deficiency. Functional and metabolic abnormalities associated with disruption of the purine nucleotide cycle. (1984) (147)
L-Carnitine and its role in medicine: from function to therapy (1992) (144)
Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. (2005) (144)
Mitochondrial encephalomyopathies: an update (2005) (143)
Metabolic causes of myoglobinuria (1990) (141)
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency (2010) (140)
Neuropathology of Mitochondrial Encephalomyopathies Due to Mitochondrial DNA Defects (1993) (140)
Coenzyme Q– responsive Leigh's encephalopathy in two sisters (2002) (140)
MELAS syndrome (1988) (137)
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. (2007) (137)
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA (1991) (136)
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy (2011) (135)
Approaches to the treatment of mitochondrial diseases (2006) (135)
Differential features of patients with mutations in two COX assembly genes, SURF‐1 and SCO2 (2000) (135)
Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses (1992) (135)
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. (1990) (134)
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. (1997) (133)
Mitochondrial DNA abnormalities and autistic spectrum disorders. (2004) (133)
Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging. (2014) (133)
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype (2011) (133)
POLG mutations and Alpers syndrome (2005) (132)
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis. (2010) (128)
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis (2004) (127)
Luft's disease Further biochemical and ultrastructural studies of skeletal muscle in the second case (1976) (126)
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. (1994) (126)
A Diagnostic Algorithm for Metabolic Myopathies (2010) (122)
Mitochondrial Diseases: Therapeutic Approaches (2007) (120)
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. (2002) (120)
Disorders of lipid metabolism in muscle (1980) (117)
Metabolic Myopathies (2010) (117)
Mitochondrial DNA Deletion Syndromes (2011) (117)
Mitochondrial DNA depletion (2002) (116)
NERVOUS SYSTEM IN POMPE'S DISEASE: ULTRASTRUCTURE AND BIOCHEMISTRY (1971) (114)
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients (1996) (113)
Residual acid maltase activity in late‐onset acid maltase deficiency (1977) (113)
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (2003) (113)
A mitochondrial tRNA anticodon swap associated with a muscle disease (1993) (113)
Therapeutic prospects for mitochondrial disease. (2010) (112)
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene. (2006) (109)
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1 (2013) (109)
Human CoQ10 deficiencies (2008) (108)
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria (1999) (108)
Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects (2010) (108)
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) (2004) (108)
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. (1981) (108)
A functionally dominant mitochondrial DNA mutation. (2008) (107)
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome (1991) (107)
Hereditary carnitine deficiency of muscle (1975) (107)
Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation. (2017) (106)
A novel mtDNA point mutation in maternally inherited cardiomyopathy. (1995) (105)
Cytochrome c Oxidase Deficiency (1990) (104)
Fatal infantile form of muscle phosphorylase deficiency (1978) (104)
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. (1995) (103)
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. (1999) (103)
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase (1987) (102)
Histiocytoid Cardiomyopathy of Infancy: Deficiency of Reducible Cytochrome b in Heart Mitochondria (1984) (102)
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA (2000) (102)
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy (2009) (102)
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. (2008) (101)
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency (2012) (101)
Glycogen branching enzyme deficiency in adult polyglucosan body disease (1993) (100)
Myoclonic epilepsy and ragged‐red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics (1989) (100)
Coenzyme Q10 deficiency and isolated myopathy (2006) (99)
Cytochrome c oxidase-associated Leigh syndrome: Phenotypic features and pathogenetic speculations (1991) (99)
Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome. (1989) (99)
Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency. (1989) (98)
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy. (2015) (98)
Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase. (1987) (97)
A T → C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome (1994) (97)
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12S rRNA gene (1997) (97)
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation (1999) (97)
Severe cardiopathy in branching enzyme deficiency. (1987) (96)
Benign reversible muscle cytochrome c oxidase deficiency (1987) (95)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. (1998) (94)
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness (2004) (93)
Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations (2008) (92)
Mitochondrial encephalomyopathies: Clinical and molecular analysis (1994) (92)
Effect of Ezetimibe and/or Simvastatin on Coenzyme Q10 Levels in Plasma (2006) (92)
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene (2008) (91)
Immunocytochemical study of dystrophin in muscle cultures from patients with Duchenne muscular dystrophy and unaffected control patients. (1988) (91)
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. (1994) (90)
Maternally inherited Leigh syndrome. (1993) (90)
Cytochrome‐c‐oxidase deficiency in a floppy infant (1982) (90)
Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations. (2004) (90)
Mutations in mtDNA: Are We Scraping the Bottom of the Barrel? (2000) (89)
Mutations in coenzyme Q10 biosynthetic genes. (2007) (89)
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. (2012) (88)
A critical approach to the therapy of mitochondrial respiratory chain and oxidative phosphorylation diseases. (2009) (87)
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders (2007) (86)
Mitochondrial diseases. (2004) (86)
A Novel Polymerase γ Mutation in a Family With Ophthalmoplegia, Neuropathy, and Parkinsonism (2004) (86)
Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency (2003) (85)
Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient (1985) (85)
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome (2004) (85)
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene (1999) (85)
Differential diagnosis of fatal and benign cytochrome c oxidase‐deficient myopathies of infancy (1991) (85)
Mitochondria1 encephalomyopathy with decreased succinate‐cytochrome c reductase activity (1984) (84)
Progressive ophthalmoplegia, glycogen storage, and abnormal mitochondria. (1973) (84)
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy (1998) (84)
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (2002) (83)
A history of mitochondrial diseases (2011) (83)
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia (2013) (83)
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies (2003) (82)
Deletion of mitochondrial DNA in patients with combined features of kearns‐sayre and MELAS syndromes (1991) (82)
Early biochemical consequences of denervation in fast and slow skeletal muscles and their relationship to neural control over muscle differentiation. (1972) (82)
Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain (1984) (82)
Cytochrome c oxidase deficiency in Leigh's syndrome (1989) (80)
Clinical syndromes associated with ragged red fibers. (1991) (79)
The Glycogen Storage Diseases and Related Disorders (2006) (79)
Kearns‐sayre syndrome with reduced plasma and cerebrospinal fluid folate (1983) (79)
Short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy (1991) (78)
Neuromuscular disorder associated with a defect in mitochondrial energy supply. (1976) (78)
Surprises of genetic engineering (2001) (77)
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. (1995) (77)
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses (1998) (76)
McArdle disease: The mystery of reappearing phosphorylase activity in muscle culture—A fetal isoenzyme (1978) (76)
Muscle carnitine deficiency and fatal cardiomyopathy (1978) (75)
Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene (1997) (75)
Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria (1983) (75)
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. (2002) (75)
Mitochondrial DNA and RNA processing in MELAS (1996) (74)
Kearns‐Sayre syndrome presenting as renal tubular acidosis (1990) (74)
Muscle phosphofructokinase deficiency: Two cases with unusual polysaccharide accumulation and immunologically active enzyme protein (1980) (74)
Muscle phosphofructokinase deficiency (1981) (74)
Clinical and genetic characterization of Chanarin-Dorfman syndrome. (2008) (73)
Mitochondrial Disorders in Neurology (1994) (72)
Coenzyme Q deficiency in muscle. (2011) (72)
Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease. (1999) (71)
Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency (2004) (71)
Lipid storage myopathies (2008) (71)
A new muscle glycogen storage disease associated with glycogenin‐1 deficiency (2014) (71)
Carnitine palmityl transferase deficiency (1980) (70)
Familial myoadenylate deaminase deficiency and exertional myalgia (1982) (70)
Adult‐onset acid maltase deficiency: A postmortem study (1978) (70)
CoQ10 deficiency diseases in adults. (2007) (69)
Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic? (1997) (69)
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. (2003) (69)
Cerebral lactic acidosis correlates with neurological impairment in MELAS (2004) (69)
Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects. (1971) (69)
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. (2008) (69)
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome (1991) (68)
Caveolin-1(-/-)- and caveolin-2(-/-)-deficient mice both display numerous skeletal muscle abnormalities, with tubular aggregate formation. (2007) (68)
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. (1986) (68)
Clinical manifestations of mitochondrial DNA depletion. (1998) (68)
Clinical features and genetics of myoclonic epilepsy with ragged red fibers. (2002) (67)
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. (2005) (66)
Retrospective natural history of thymidine kinase 2 deficiency (2018) (66)
Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity a (1986) (66)
Adult acid maltase deficiency (1993) (66)
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. (2012) (65)
Fatal infantile neuromuscular presentation of glycogen storage disease type IV (2004) (65)
Mitochondrial DNA depletion, near-fatal metabolic acidosis, and liver failure in an HIV-infected child treated with combination antiretroviral therapy. (2001) (65)
Valproic Acid Impairs Carnitine Uptake in Cultured Human Skin Fibroblasts. An In Vitro Model for the Pathogenesis of Valproic Acid–Associated Carnitine Deficiency (1993) (64)
Nuclear power and mitochondrial disease (1998) (64)
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase. (1987) (64)
Myoadenylate deaminase deficiency Muscle biopsy and muscle culture in a patient with gout (1980) (64)
Mitochondrial involvement in Parkinson's disease: the controversy continues. (1993) (63)
Fatal infantile form of muscle phosphofructokinase deficiency (1986) (62)
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. (2008) (61)
Clinical Heterogeneity Associated with the Mitochondrial DNA T8993C Point Mutation (1996) (61)
Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects (2002) (61)
The mitochondrial A3243G mutation presenting as severe cardiomyopathy. (1997) (61)
Peripheral neuropathy in mitochondrial disease (1987) (61)
Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome? (2001) (60)
Clinical manifestations of mitochondria1 DNA depletion (1998) (60)
Protean phenotypic features of the A3243G mitochondrial DNA mutation. (2009) (60)
The adult form of acid maltase (α‐1,4‐glucosidase) deficiency (1977) (60)
Mitochondrial Encephalomyopathies: Therapeutic Approach (2004) (59)
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene (2010) (58)
Kearns–Sayre syndrome: oncocytic transformation of choroid plexus epithelium (2000) (58)
Muscle phosphoglycerate rnutase deficiency (1982) (58)
Does the Patient Have a Mitochondrial Encephalomyopathy? (1999) (58)
Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q (1999) (58)
Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (2007) (57)
Lipid storage myopathy, ichthyosis, and steatorrhea (1979) (57)
Infantile encephalopathy associated with the MELAS A3243G mutation. (1999) (57)
Mitochondrial myopathy simulating spinal muscular atrophy. (1996) (57)
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome (2017) (56)
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. (1993) (56)
A new mitochondrial tRNAMet gene mutation in a patient with dystrophic muscle and exercise intolerance (1998) (56)
Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy (1996) (56)
Mitochondria and the heart (2001) (55)
A Novel Mitochondrial G8313A Mutation Associated with Prominent Initial Gastrointestinal Symptoms and Progressive Encephaloneuropathy (1997) (55)
Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle. (1976) (55)
Primary coenzyme Q10 deficiency and the brain (2003) (55)
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. (1988) (54)
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. (1997) (54)
Serum carnitine. An index of muscle destruction in man. (1973) (54)
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. (1994) (54)
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. (2004) (54)
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency. (1983) (54)
The many clinical faces of cytochrome c oxidase deficiency. (2012) (54)
High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy (1987) (54)
Carbohydrate metabolism in hypothyroid myopathy. (1977) (53)
Mitochondrial Encephalomyopathies (1992) (53)
Reversion of mtDNA depletion in a patient with TK2 deficiency (2003) (53)
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA (2002) (53)
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. (2008) (53)
TMEM14C is required for erythroid mitochondrial heme metabolism. (2014) (53)
Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. (1996) (52)
Polyglucosan body disease (1991) (52)
ANT1, Twinkle, POLG, and TP (2001) (52)
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region (1991) (52)
Genome-Wide Association Analysis Identifies a Mutation in the Thiamine Transporter 2 (SLC19A3) Gene Associated with Alaskan Husky Encephalopathy (2013) (52)
G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid Lys Gene: Another Cause of Leigh Syndrome (2000) (51)
Lysosomal glycogen storage disease without acid maltase deficiency (1983) (51)
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. (2013) (51)
Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family. (1988) (51)
Mitochondrial Encephalomyopathies: Diagnostic Approach (2004) (51)
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? (2012) (51)
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies (2017) (50)
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. (1998) (50)
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease) (1995) (50)
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS (2009) (50)
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? (2008) (50)
Inborn errors of metabolism and motor disturbances in children (2009) (49)
Cell fractionation studies indicate that dystrophin is a protein of surface membranes of skeletal muscle. (1989) (49)
Leigh-type neuropathology in Pearson syndrome associated with impaired ATP production and a novel mtDNA deletion (1996) (49)
Diagnosis of McArdle's disease by molecular genetic analysis of blood (1996) (49)
A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome (2003) (49)
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. (2007) (48)
Maternally inherited nonsyndromic hearing loss. (1999) (48)
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation (1997) (48)
Clinical varieties of neuromuscular disease in debrancher deficiency. (1984) (48)
Mitochondrial DNA copy number threshold in mtDNA depletion myopathy (2005) (48)
Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci (1995) (48)
Mitochondrial DNA Medicine (2007) (48)
Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: A mitochondrial multisystem disorder in search of a name (1994) (48)
Medicinal and genetic approaches to the treatment of mitochondrial disease. (2003) (48)
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. (2006) (47)
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related charolais cattle (1995) (47)
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. (2000) (47)
Polyglucosan body disease simulating amyotrophic lateral sclerosis (1993) (47)
Juvenile Alpers disease. (2008) (47)
A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNALys gene associated with myoclonus epilepsy with ragged-red fibers (1999) (46)
Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF (1994) (46)
Progress and problems in muscle glycogenoses (2011) (46)
Neonatal presentations of mitochondrial metabolic disorders. (1999) (45)
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. (1981) (45)
Congenital megaconial myopathy due to a novel defect in the choline kinase Beta gene. (2012) (45)
Active transport of carnitine into skeletal muscle (1978) (45)
Mitochondrial myopathies (1987) (45)
Muscle glycogenoses: an overview. (2007) (45)
Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration. (1986) (45)
Coenzyme Q10 levels in Prader‐Willi syndrome: Comparison with obese and non‐obese subjects (2003) (44)
Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria. (1975) (44)
Autosomal dominant limb-girdle muscular dystrophy (2001) (44)
Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency (1997) (43)
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (2013) (42)
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. (2006) (42)
Correlation between clinical and molecular features in two MELAS families (1992) (42)
Respiratory failure revealing mitochondrial myopathy in adults. (1992) (42)
Molecular defects in cytochrome oxidase in mitochondrial diseases (1988) (41)
McArdle's disease in two generations (1987) (41)
Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse (1994) (41)
Mitochondrial encephalomyopathies: therapeutic approaches (2000) (41)
Exercise‐induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency (2006) (40)
Myopathic form of phosphoglycerate kinase (PGK) deficiency: A new case and pathogenic considerations (2009) (40)
Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy (1996) (40)
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. (1993) (40)
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina) (1994) (40)
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. (2009) (40)
Adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features. (1979) (40)
Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase. (1988) (40)
Late‐onset muscle phosphofructokinase deficiency (1988) (40)
Progressive cavitating leukoencephalopathy: A novel childhood disease (2005) (40)
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. (2018) (40)
Disorders of carbohydrate metabolism. (2007) (40)
Muscle carnitine deficiency Genetic heterogeneity (1979) (40)
Muscle phosphoglycerate mutase deficiency revisited. (2009) (40)
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction (2002) (40)
Use of single strand conformation polymorphism analysis to detect point mutations in human mitochondrial DNA (1992) (39)
Subunit Va of human and bovine cytochrome c oxidase is highly conserved. (1988) (39)
Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations (2005) (39)
Myopathy and parkinsonism in phosphoglycerate kinase deficiency (2010) (39)
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. (2004) (39)
Myoadenylate deaminase deficiency (2005) (39)
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy (1987) (39)
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations (1998) (39)
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene (2003) (39)
Mitochondrial DNA and Diseases of the Nervous System: The Spectrum (1998) (39)
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease (1996) (39)
Molecular basis of muscle phosphoglycerate mutase (PGAM‐M) deficiency in the Italian kindred (1996) (38)
New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome. (2005) (38)
Phenotype–genotype correlations in skeletal muscle of patients with mtDNA deletions (1995) (38)
New insights in the field of muscle glycogenoses (2013) (38)
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients (1994) (38)
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3 (2016) (37)
Recurrent childhood myoglobinuria. (1990) (37)
Mitochondria and heart disease. (1998) (37)
A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family (2008) (37)
Measurement of ATP production in mitochondrial disorders (2006) (37)
McArdle's disease: Biochemical and molecular genetic studies (1988) (37)
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease. (1994) (37)
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. (2002) (37)
Mitochondrial DNA depletion in a patient with long survival (1998) (37)
Kearns‐Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system (1999) (36)
Disorders of glycogen metabolism of muscle. (1989) (36)
Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children. (2011) (36)
Cerebral metabolic abnormalities in A3243G mitochondrial DNA mutation carriers (2014) (36)
A Novel Mutation in the Mitochondrial DNA Cytochrome b Gene (MTCYB) in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes Syndrome (2013) (36)
Branching enzyme deficiency: expanding the clinical spectrum. (2014) (35)
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. (2011) (35)
Muscle in Lafora disease. (1974) (35)
The expanding phenotype of mitochondrial myopathy (2005) (35)
Neuromuscular forms of glycogen branching enzyme deficiency. (2007) (35)
Metabolic and functional adaptation of the diaphragm to training with resistive loads. (1989) (35)
Cytochrome c oxidase deficiency. (1985) (34)
Early ultrastructural and biochemical changes in muscle in dystrophia myotonica. (1970) (34)
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV. (2011) (34)
Glycogen storage diseases of muscle. (1998) (34)
Pathogenesis and treatment of mitochondrial disorders. (2009) (33)
Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. (2015) (33)
Lessons from mitochondrial DNA mutations. (2001) (33)
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy. (1999) (33)
Structure of the gene encoding the muscle-specific subunit of human phosphoglycerate mutase. (1989) (33)
Phosphorylase isoenzymes in normal and myophosphorylase‐deficient human heart (1979) (32)
Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome (2004) (32)
Adult polyglucosan body disease: A case report of a manifesting heterozygote (2005) (32)
mechanisms of disease Mitochondrial Respiratory-Chain Diseases (2003) (32)
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy (1995) (32)
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. (2002) (32)
Muscle glycogenoses: an overview. (2007) (32)
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. (2012) (32)
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. (2003) (32)
Muscle phosphogylcerate mutase (PGAM) deficiency (1983) (32)
Deletions of mitochondrial DNA in Kearns-Sayre syndrome (1998) (32)
Disorders Associated with Depletion of Mitochondrial DNA (1992) (32)
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations (2012) (32)
Mitochondria1 encephalomyopathy and partial cytochrome c oxidase deficiency (1987) (32)
Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. (2016) (31)
Enzymes of the glycogen cycle and glycolysis in various human neuromuscular disorders. (1967) (31)
Partial dystrophin deficiency in monozygous twin carriers of the Duchenne gene discordant for clinical myopathy (1990) (31)
Binding of enzymes of glycogen metabolism to glycogen in skeletal muscle. (1971) (31)
Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1 (2016) (31)
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA (2002) (31)
Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review (1999) (31)
TK2 mutation presenting as indolent myopathy (2013) (30)
A new mitochondrial DNA mutation (A3288G) in the tRNALeu(UUR) gene associated with familial myopathy (1999) (30)
Myoclonic Epilepsy with Ragged‐red Fibers (MERRF): An Immunohistochemical Study of the Brain (1995) (30)
Glycogen storage myopathies. (2000) (30)
Cytochrome C Oxidase Deficiency and Neuronal Involvement in Menkes' Kinky Hair Disease: Immunohistochemical Study (1993) (29)
Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy (2005) (29)
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase (2013) (29)
Hereditary metabolic cardiomyopathies. (1994) (29)
Reversible mitochondrial myopathy with cytochrome c oxidase deficiency. (1992) (29)
Mitochondrial defects of brain and muscle. (1990) (29)
Mitochondrial encephalomyopathies: what next? (1996) (29)
Prenatal diagnosis of glycogen storage disease type IV (2006) (29)
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome (1996) (29)
The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin‐embedded sections: Revisiting the past (1998) (29)
Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged‐red fiber disease point mutation in mitochondrial DNA (1993) (29)
Mitochondrial disease heterogeneity: a prognostic challenge (2014) (29)
The efficacy of perioperative steroid therapy in pediatric primary palatoplasty. (1999) (28)
A Splice Junction Mutation in the αMGene of Phosphorylase Kinase in a Patient with Myopathy (1998) (28)
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency (1994) (28)
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation. (2004) (28)
Molecular genetic analysis of McArdle's disease in Spanish patients (1998) (28)
Historical perspective on mitochondrial medicine. (2010) (28)
Characterization of the enzymatic defect in late-onset muscle phosphofructokinase deficiency. New subtype of glycogen storage disease type VII. (1987) (28)
An A‐to‐C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease) (1994) (28)
Late-onset acid maltase deficiency. Detection of patients and heterozygotes by urinary enzyme assay. (1976) (28)
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM‐M) deficiency (1995) (28)
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. (2003) (28)
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. (2010) (28)
Loss of myelin-associated glycoprotein in kearns-sayre syndrome. (2012) (28)
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene (1999) (27)
Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy (1997) (27)
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy (1999) (27)
Myotoxicity of lipid-lowering agents in a teenager with MELAS mutation. (2008) (27)
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency (1995) (27)
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease (1999) (27)
Late-onset acid maltase deficiency: Biochemical studies of leukocytes (1981) (27)
Surprises of genetic engineering: A possible model of polyglucosan body disease (2001) (27)
Mitochondrial hepatopathies. (2005) (27)
Muscle phosphorylase b kinase deficiency revisited (2010) (27)
Autosomal dominant psychiatric disorders and mitochondrial DNA multiple deletions: report of a family. (2008) (26)
hCOX18 and hCOX19: two human genes involved in cytochrome c oxidase assembly. (2005) (26)
Muscle phosphoglycerate mutase deficiency. (1982) (26)
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. (2010) (26)
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: Muscle biopsy and autopsy findings, biochemical and molecular genetic studies (2010) (26)
Phosphoglycerate kinase deficiency (1993) (26)
Differentiating idiopathic inflammatory myopathies from metabolic myopathies. (2002) (26)
Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome (1999) (26)
Amyotrophic lateral sclerosis with ragged-red fibers. (2008) (26)
Mitochondrial genes for generalized epilepsies. (1999) (25)
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies (2013) (25)
A Novel Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidAsp Gene in a Child With Myoclonic Epilepsy and Psychomotor Regression (1999) (25)
Muscle phosphorylase kinase deficiency (2012) (25)
Tissue carnitine in reye syndrome (1978) (25)
Myophosphorylase gene transfer in McArdle’s disease myoblasts in vitro (1999) (24)
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. (2016) (24)
Muscle glycogenoses (2001) (24)
Physiologic assessment of phosphoglycerate mutase deficiency (1985) (24)
Exercise intolerance and the mitochondrial respiratory chain (1999) (24)
Dementia of adult polyglucosan body disease. Evidence of cortical and subcortical dysfunction. (1994) (24)
Mutations in mitochondrial DNA as a cause of exercise intolerance (2001) (24)
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. (2010) (24)
Insulin sensitivity in Belgian horses with polysaccharide storage myopathy. (2008) (24)
Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture? (2006) (24)
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria (1998) (24)
Myoclonus epilepsy with ragged red fibers and multiple mtDNA deletions (1998) (24)
Study of mitochondrial DNA depletion in muscle by single‐fiber polymerase chain reaction (1998) (23)
A myopathy with unusual features caused by PNPLA2 gene mutations (2015) (23)
Biochemistry and molecular genetics of human glycogenoses: An overview (1995) (23)
Congenital myopathy due to phosphorylase deficiency (1983) (23)
Encephalopathy and fatal myopathy in two siblings. Their association with partial deficiency of muscle carnitine. (1982) (23)
MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation (2011) (23)
A novel mouse model that recapitulates adult-onset glycogenosis type 4. (2015) (23)
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease (1999) (22)
Recurrent myoglobinuria and HIV seropositivity: Incidental or pathogenic association? (1989) (22)
Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation (2001) (22)
Biochemical and genetic studies in a family with mitochondrial myopathy (1997) (22)
The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families (1999) (22)
A polymorphic polymerase. (2006) (22)
Biochemical and molecular aspects of cytochrome C oxidase deficiency. (1988) (22)
Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene (1994) (22)
Cytochrome oxidase deficiency: progress and problems (1994) (21)
Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency (2004) (21)
Mitochondrial encephalomyopathies—Fifty years on (2013) (21)
A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy (2001) (21)
Study of Mitochondrial DNA Mutations in Patients With Migraine With Prolonged Aura (2004) (21)
Three new mutations in patients with myophosphorylase deficiency (McArdle disease). (1994) (21)
Exercise-induced muscle “burning,” fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly (2002) (21)
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. (1998) (20)
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency (2020) (20)
Placental involvement in glycogen storage disease type IV. (2008) (20)
Molecular characterization of McArdle’s disease in two large Finnish families (1999) (20)
HyperCKemia as the Only Sign of McArdle's Disease in a Child (2000) (20)
Phosphoglycerate kinase deficiency: a new cause of recurrent myoglobinuria. (1981) (20)
Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: A new approach to the study of mitochondrial myopathies (1991) (20)
The other human genome. (2001) (20)
Pathogenesis and treatment of mitochondrial myopathies: recent advances (2010) (20)
Immunocytochemical study of nebulin in Duchenne muscular dystrophy (1988) (19)
Glycogen Metabolism of Human Diploid Fibroblast Cells in Culture. I. Studies of Cells from Patients with Glycogenosis Types II, III, and V (1973) (19)
Current classification of mitochondrial disorders (2003) (19)
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. (2000) (19)
Adult Reye's syndrome (1991) (19)
Muscle phosphofructokinase deficiency. Biochemical and immunological studies of phosphofructokinase isozymes in muscle culture. (1983) (19)
Analysis of mtDNA deletions in muscle by in situ hybridization (2000) (18)
Serum coding and non-coding RNAs as biomarkers of NAFLD and fibrosis severity (2019) (18)
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (2012) (18)
Mitochondrial myopathy associated with a novel mutation in mtDNA (2007) (18)
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria (1993) (18)
Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations (2007) (18)
Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease) (1995) (18)
Renal failure in McArdle's disease. (1972) (18)
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion (1998) (18)
Mitochondrial diseases in North America (2020) (18)
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry? (1991) (18)
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy. (2016) (18)
Disorders of glycogen and lipid metabolism. (1977) (17)
Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3 (2014) (17)
Corticosteroid-responsive skeletal muscle disease associated with partial carnitine deficiency: studies of liver and metabolic alterations. (1977) (17)
A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact (1999) (17)
Juvenile‐onset acid maltase deficiency with unusual familial features (1986) (17)
The many faces of mitochondrial diseases. (2004) (17)
Glycogen debrancher deficiency is reproduced in muscle culture (1981) (17)
Clinical and Biochemical Studies on Cytochrome Oxidase Deficiencies a (1988) (17)
Psychiatric symptoms in a patient with the clinical features of MELAS. (2002) (17)
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation (2005) (17)
Mitochondrial encephalomyopathies: back to Mendelian genetics. (1999) (16)
A Late-Onset Case of Neutral Lipid Storage Disease with Myopathy, Dropped Head Syndrome, and Peripheral Nerve Involvement (2013) (16)
Carnitine palmitoyltransferase II deficiency: Diagnosis by molecular analysis of blood (1997) (16)
Sudden infant death syndrome (SIDS) in a family with myosphosphorylase deficiency (1997) (16)
Mucolipidosis II (I-Cell Disease): Studies of Muscle Biopsy and Muscle Cultures (1981) (16)
Human Myopathies in Muscle Culture: Morphological, Cytochemical, and Biochemical Studies (1985) (16)
THERAPEUTIC APPROACHES TO MITOCHONDRIAL ENCEPHALOMYOPATHIES (2006) (16)
Mitochondrial mutations: genotype to phenotype. (2007) (16)
Myophosphorylase deficiency: an unusually severe form with myoglobinuria. (1994) (15)
Mitochondrial Encephalomyopathies, Overview (2003) (15)
Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme (1984) (15)
Kearns‐Sayre syndrome in twins (1988) (15)
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO) (2010) (15)
Mitochondrial encephalomyopathies: Back to mendelian genetics (1999) (15)
Is nebulin the defective gene product in Duchenne muscular dystrophy? (1987) (15)
Diseases of oxidative phosphorylation due to mtDNA mutations. (2001) (15)
Glycogen Storage Diseases of Muscle (1998) (15)
The mitochondrial respiratory chain and its disorders (2006) (15)
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase (1998) (14)
Mitochondrial DNA Deletion in a Child Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy (2004) (14)
Glycolytic difference between foetal and non-foetal human fibroblast lines. (1971) (14)
Polymorphic variants in the human mitochondrial cytochrome b gene. (1999) (14)
Control of glycogen metabolism in human muscle. Evidence from glycogen storage diseases. (1970) (14)
A novel tRNAVal mitochondrial DNA mutation causing MELAS (2008) (14)
Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia (1997) (13)
Thyrotoxic periodic paralysis (1973) (13)
Rare McArdle disease locus polymorphic site on 11q13 contains CpG sequence (1990) (13)
Mitochondrial encephalomyopathies: biochemical approach. (1991) (13)
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation (2004) (13)
Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria (2000) (13)
Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia (2000) (13)
Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene (2007) (13)
POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family (2012) (13)
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis (2008) (12)
Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome) (2015) (12)
Mitochondrial encephalomyopathies. (1992) (12)
Mitochondrial encephalomyopathies. (1990) (12)
Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA (2005) (12)
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation (2011) (12)
Urinary excretion of carnitine in Duchenne muscular dystrophy. (1976) (12)
Ultrastructural mitochondrial abnormalities in patients with sporadic amyotrophic lateral sclerosis. (2011) (12)
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families (2002) (12)
Human CoQ 10 deficiencies (2013) (11)
Myopathy with tubulin-reactive crystalline inclusions (2001) (11)
The course of vision disturbances in a patient with the MELAS syndrome. (2002) (11)
No association of the mitochondrial DNA A12308G polymorphism with increased risk of stroke in patients with the A3243G mutation (2004) (11)
Pediatric HIV/AIDS Cohort Study (PHACS) Adolescent Master Protocol (AMP) Protocol PH 200 (2010) (11)
Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency (2018) (11)
LAMP-2 deficiency (Danon disease). (2007) (11)
A Brief History of Mitochondrial Pathologies (2019) (11)
Biochemical evaluation of mitochondrial respiratory chain enzymes in canine skeletal muscle. (2004) (11)
Mutant COQ2 in multiple-system atrophy. (2014) (11)
Disorders of Voluntary Muscle, Ed. 4 (1982) (11)
McArdle disease: the mysterious appearance of phosphorylase activity in cells that ought to lack the genetic program. A fetal isoenzyme? (1977) (11)
Mitochondrial medicine. (2004) (11)
Beta‐oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency (1985) (10)
A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck (2014) (10)
Glycogen Metabolism of Human Diploid Fibroblast Cells in Culture. II. Factors Influencing Glycogen Concentration (1973) (10)
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease (2002) (10)
Biochemical studies in mitochondrial encephalomyopathy. (1987) (10)
Mitochondrial encephalomyopathies. (1989) (10)
Autosomal recessive lethal infantile cytochrome C oxidase deficiency. (1991) (10)
Mitochondrial myopathies (1985) (9)
Phosphoglycerate kinase deficiency (1994) (9)
Mitochondrial disorders. Discussion (2002) (9)
Macrophage derived TNFα promotes hepatic reprogramming to Warburg-like metabolism (2019) (9)
Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathy (1990) (9)
Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain (1990) (8)
Immunocytochemical analysis of normal and acid maltase-deficient muscle cultures. (1985) (8)
Luft's disease: an electron cytochemical study. (1977) (8)
Clinical and Biochemical Heterogeneity in an Italian Family with CPT II Deficiency due to Ser 113 Leu Mutation (2005) (8)
X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. (1985) (8)
Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration (2014) (8)
Disorders of glycogen metabolism of muscle. (1989) (8)
Multiple neutral maltase activities in normal and acid maltase-deficient human muscle (1984) (8)
GBE1‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes (2020) (8)
Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNA(Pro) gene. (1994) (8)
Primary Disorders of Mitochondrial DNA and the Pathophysiology of mtDNA-Related Disorders (2002) (8)
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency. (2004) (8)
Diagnosis of the mitochondrial encephalomyopathies. (1997) (8)
Recurrent exertional myalgia and myoglobinuria due to carnitine palmityltransferase deficiency. (1983) (7)
Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies (1993) (7)
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis (2006) (7)
Phosphorylase isoenzymes of human brain (1983) (7)
Mitochondrial dysfunction as a mechanism of CNS injury (1991) (7)
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. (1997) (7)
Heterozygotes for plasmalemmal carnitine transporter defect are at increased risk for valproic acid-associated impairment of carnitine uptake in cultured human skin fibroblasts (1995) (7)
Pathogenesis and treatment of mitochondrial myopathies: recent advances. (2010) (7)
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene (2014) (7)
mtDNA deletions in Kearns‐Sayre (1990) (7)
Mitochondrial Myopathies: Biochemical Aspects (1994) (7)
The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia (2009) (7)
Frequency of Human Leukocyte Antigens, Plasminogen Activator Inhibitor-1 and Methylenetetrahydrofolate Reductase Gene Polymorphisms in Obstructive Sleep Apnea-Hypopnea Syndrome with or without Pulmonary Artery Hypertension (2013) (7)
Metabolic Myoglobinuria (2015) (7)
The Clinical Spectrum of Nuclear DNA-Related Mitochondrial Disorders (2013) (6)
Spinal muscular atrophy and mitochondrial DNA depletion (2003) (6)
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene (2010) (6)
A novel tRNA<ce:sup loc=post>Val</ce:sup> mitochondrial DNA mutation causing MELAS (2008) (6)
LIPID MYOPATHY AND CONGENITAL ICHTHYOSIS-A NEW DISORDER, PROBABLY GENETIC: 94 (1976) (6)
[Muscle carnitine deficiency: report of 8 cases with clinical, electromyographic, histochemical and biochemical studies]. (1985) (6)
Diseases of Carbohydrate, Fatty Acid and Mitochondrial Metabolism (1999) (6)
Restoring balance to ataxia with coenzyme Q10 deficiency (2006) (6)
Introduction: Mitochrondrial Encephalomyopathies (2000) (6)
Chapter 3 Molecular Genetic Basis of the Mitochondrial Encephalomyopathies (2002) (6)
Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency (2014) (6)
CoQ10 Deficiency Is Not a Common Finding in GLUT1 Deficiency Syndrome. (2015) (6)
Fatal cytochromec oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts (1992) (6)
Mitochondrial diseases. (2002) (6)
Mitochondrial diseases: Clinical considerations (1998) (6)
Glycogen synthetase in developing and adult skeletal muscle. (1971) (6)
Mitochondrial myopathy and myoclonic epilepsy. (1990) (6)
Hormone receptors in breast cancer. (1978) (5)
Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNAGlu of Mitochondrial DNA (2007) (5)
Relationship of serum enzyme changes to muscle damage in vitamin E deficiency of the rabbit. (1968) (5)
VMA21 Deficiency: A Case of Myocyte Indigestion (2009) (5)
Mutation in an mtDNA Protein-Coding Gene (2013) (5)
Pedaling from genotype to phenotype. (2006) (5)
Myoadenylate deaminase deficiency in a 5-year-old boy with intermittent muscle pain. (1984) (4)
Congenital Megaconial Myopathy Due to a Novel Defect in the Choline Kinase beta (CHKB) Gene (P01.116) (2012) (4)
Leber hereditary optic neuropathy: biochemical lights in a blurry scenario. (2005) (4)
Hereditary metabolic myopathies. (1985) (4)
Studies of fragmented sarcoplasmic reticulum from human skeletal muscle (1978) (4)
Kearns-Sayre syndrome or ophthalmoplegia-plus? To lump or to split? (1976) (4)
157 CARNITINE DEFICIENCY ASSOCIATED WITH RENAL FANCONI SYNDROME (1981) (4)
Epilepsy in mitochondrial encephalomyopathies. (1991) (4)
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. (2013) (4)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Authors' replies (2007) (4)
Cytochrome c Oxidase Deficiency in Muscle With Dicarboxylic Aciduria and Renal Tubular Acidosis (1990) (4)
A novel POLG gene mutation in a patient with SANDO. (2012) (4)
Beneficial effect of sodium dichloroacetate in muscle cytochrome C oxidase deficiency (1993) (4)
Disorders of Glycogen Metabolism (1985) (4)
[Muscular carnitine-palmityl-transferase deficiency]. (2008) (4)
Erratum: A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck (PLoS ONE (2014) 9:5 (e96663) DOI: 10.1371/journal.pone.0096663) (2014) (4)
Glycogen storage diseases of muscle problems in biochemical genetics. (1971) (4)
Mitochondrial Pathogenesis (2004) (3)
Ottorino Rossi Award 2001. Mitochondrial DNA: a genetic Pandora's box. (2001) (3)
The North American mitochondrial disease registry (2020) (3)
Ultrastructural study of globular inclusions in human skeletal muscle mitochondria (2004) (3)
Mitochondrial DNA mutation load: chance or destiny? (2013) (3)
Deletions of mitochondrial DNA in Kearns‐Sayre syndrome (1988) (3)
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias (2018) (3)
Mitochondrial disorders due to mutations in the mitochondrial genome (2020) (3)
Molecular studies in cuban patients with progressive external ophthalmoplegia. (2000) (3)
[Mitochondrial encephalopathies: where are we going?]. (1999) (3)
Coexistence of mitochondrial and nuclear DNA mutations in a woman with mitochondrial encephalomyopathy and double cortex. (2010) (3)
Drug Effects in Patients with Mitochondrial Diseases (2008) (3)
Deletions of mitochondrial DNA in Kearns-Sayre syndrome (2011) (3)
A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome (2004) (3)
Introduction: the birth of mitochondrial medicine (2006) (3)
A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children (2016) (3)
Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders (1993) (3)
Chapter 31 Metabolic myopathies (2003) (2)
Metabolic myopathies. (2002) (2)
[Pathomechanism and clinical presentation of neurobehavioral disturbances in a patient with MELAS syndrome]. (2001) (2)
Clinical and Biochemical Heterogeneity of Phosphorylase Kinase Deficiency (1987) (2)
No evidence of cognitive decline among carrier relatives of MELAS patients (2012) (2)
Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251. (2003) (2)
Human NARP Mitochondrial Mutation Metabolism Corrected With -Ketoglutarate/Aspartate (2017) (2)
Erratum: Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy (Human Molecular Genetics (1994) 3 (13-19)) (1994) (2)
Neurological diseases due to mitochondrial DNA mutations: concepts and problems in pathogenesis. (1991) (2)
[Rhabdomyolysis caused by carnitine palmitoyltransferase deficiency]. (1987) (2)
A 14-year-old male with asymptomatic proteinuria and hearing loss. (2003) (2)
Mitochondrial Medicine: A Historical Point of View (2019) (2)
[Tumor markers in the diagnosis of pancreatic carcinoma]. (1989) (2)
[A case of fistulized posterior urethral diverticulum with giant calculosis]. (1978) (2)
Correction: A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck (2014) (2)
Inborn Metabolic Defects of Lysosomes, Peroxisomes, Carbohydrates, Fatty Acids and Mitochondria (2012) (2)
Mitochondrial Disorders: From Pathophysiology to Acquired Defects (2013) (2)
Glycogen-storage diseases of muscle: genetic problems. (1983) (2)
[Myopathy due to carnitine palmitoyltransferase deficiency. Report of 2 cases with enzymatic analyses on muscle tissue]. (1983) (2)
Leigh syndrome caused by mitochondrial DNA-maintenance defects revealed by whole exome sequencing. (2019) (2)
Activation of free fatty acids in subcellular fractions of human skeletal muscle (1983) (2)
Proceedings of the 1987 IEEE particle accelerator conference: Accelerator engineering and technology (1988) (2)
Pathogenesis and treatment of mitochondrialmyopathies: recent advances (2010) (2)
Progress and problemsin muscle glycogenoses (2011) (2)
Genetics of primary CoQ10 deficiency (2006) (1)
MitoExome Sequencing Reveals a Mutation in the Mitochondrial MRPL51 Gene Causing Infantile Encephalopathy (P05.139) (2012) (1)
Different Populations of Mitochondria in Muscle Biopies Characterized by Ragged-red Fibers (RRF) (1987) (1)
A 41-year-old woman with progressive leg weakness and numbness, dizziness, and myalgia (2009) (1)
Searching for Efficient Therapeutic Avenues To Treat Adult Polyglucosan Body Disease (APBD) and Lafora Disease (LD) Using a High-Throughput Screening Platform (P03.053) (2013) (1)
Isolation of cDNA Clones Encoding the M and B Subunits of Human Phosphoglycerate Mutase (1987) (1)
Mitochondrial disorders (1997) (1)
[Myopathy due to succinate cytochrome C oxidoreductase deficiency: possible defect of complex II of the respiratory chain]. (1989) (1)
New MPV17 Mutations Associated with Multiple Deletions in Skeletal Muscle (S55.002) (2012) (1)
Diseases of Mitochondrial Metabolism (1999) (1)
Neurology and clinical neuroscience - a textbook of neurology (2007) (1)
[Laparoscopic cholecystectomy: the complications]. (1997) (1)
Time to Harmonize Mitochondrial Syndrome Nomenclature and Classification: A Consensus from the North American Mitochondrial Disease Consortium (Namdc) (2022) (1)
Coenzyme Q10 in the cerebrospinal fluid of multiple sclerosis patients (2008) (1)
Early-Onset Familial Parkinsonism Due to POLG (2006) (1)
Metabolic myopathies. (1986) (1)
An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006) (2015) (1)
Diseases of Carbohydrate and Fatty Acid Metabolism in Muscle (1999) (1)
Chapter 41 – Mitochondrial Encephalomyopathies (2015) (1)
Deficiency of Ubiquitin Ligase RBCK 1 Causes Polyglucosan Myopathy and Severe Childhood Cardiomyopathy (2017) (1)
Compound heterozygosis of a splice site and the common Ashkenazi Jewish mutation in GBE1 causes adult onset polyglucosan body disease. (P2.026) (2015) (1)
Chapter 75 – Metabolic and Mitochondrial Myopathies (2012) (1)
An adult-onset myopathy characterized by a double ring appearance of muscle fibers (1991) (1)
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). (2022) (1)
P.15.10 Megaconial myopathy presenting as a progressive limb-girdle myopathy (2013) (1)
Clinical and Genetic Heterogeneity of CoQ(10) Deficiency: A Study of 75 Patients (2011) (1)
Mitochondrial DNA heteroplasmy dynamics in a kindred harboring a novel pathogenic mutation in the mitochondrial tRNA glutamate gene (1994) (1)
Analysis of giant deletions of human mitochondrial DNA in progressive external ophthalmoplegia (1991) (1)
[Mitochondrial encephalopathies: clinical considerations]. (1997) (1)
O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder (2013) (1)
Chapter 5 – Client Centeredness: A Survivor's Perspective (2016) (1)
Myoadenylate deaminase deficiency—a nonfamilial, nondisease? (1983) (1)
O.95 Postoperative changes in plasma and muscle carnitine : 5% dextrose (D5W) versus 3.5% aminoacid (AA) (1983) (1)
Targeting of lysosomal enzymes: N‐Acetylglucosamine‐1‐Phosphotransferase during muscle development (1986) (1)
[Prostaglandins and gastrointestinal cytoprotection]. (1987) (1)
Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome (2017) (1)
[Clinical comments on a case of retroperitoneal lipoma]. (1985) (1)
M.P.4.12 Molecular analysis of the ABHD5 gene in Italian patients with multisystem triglyceride storage disease (Chanarin-Dorfman syndrome) (2007) (1)
[Usefulness of manometric study and pH measurement in the diagnosis of the achalasic megaesophagus and in the postoperative follow-up]. (1986) (1)
M.I.1 New frontiers in glycogen storage diseases (2007) (1)
[Diagnostic and therapeutic considerations in early gastric cancer]. (1989) (1)
[Breast feeding and pleasure]. (1991) (1)
[Clinical considerations on diverticula of the duodenum]. (1984) (1)
Mitochondrial Changes in Aging with Particular Reference to Muscle, and Possible Clinical Consequences (2011) (1)
[A case of spontaneous hematoma of the rectus abdominis muscle]. (1986) (1)
[Clinical,manifestations of the myopathies due to deletions/mutations of the dystrophin gene]. (1991) (1)
FATAL CARDIOMYOPATHY IN CYTOCHROME OXICASE DEFICIENCY: LIGHT MICROSCOPIC, HISTOCHEMICAL, BIOCHEMICAL AND AQQR ELECTRONMICROSCOPIC STUDY (1987) (1)
Megaloblastic Anemia and Mitochondriopathy Caused by a Homozygous Mutation in Sideroflexin-4. (2012) (0)
Reply from the Authors (1990) (0)
Valproic acid impairs carnitine uptake in cultured human skin fibroblasts: In vitro model for pathogenesis of valproate-induced secondary carnitine deficiency (1992) (0)
Clinical and biochemical heterogenety of childhood cytochrome C Oxidase: A case report and review of the literature (1991) (0)
JAMA Neurology Peer Reviewers in 2017. (2018) (0)
M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene cause myopathic form of coenzyme Q10 deficiency (2007) (0)
Glycogen and polyglucosan storage diseases (2020) (0)
The program of the kinki child neurology meeting, Osaka (1989) (0)
[Reflux esophagitis: a study of its etiology and physiopathology as a premise to therapeutic choice]. (1992) (0)
Table 3. [Pathogenic Variants in Mitochondrial DNA Associated with MERRF]. (2015) (0)
Table 1. [Summary of Molecular Genetic Testing Used in MELAS]. (2013) (0)
Early-onset cerebellar ataxia due to novel mutations in ACO2 (P2.224) (2015) (0)
Investigations of gene therapy for McArdle's disease using the sheep model (1999) (0)
[On some methods of treatment of the lung to be transplanted. Experimental studies of pulmonary autotransplants]. (1968) (0)
Myoadenylate deaminase deficiency—a nonfamilial, nondisease?: Reply from the authors (1983) (0)
Mitochondrial diseases: an update (2007) (0)
Pathology of mitochondrial diseases (1992) (0)
Q10 in the CSF of MS patients (2008) (0)
Mitochondria and muscular diseases edited by H.F.M. Busch, F.G.I. Jennekens and H.R. Scholte, Mefar b.v. Beetsterzwaag, 1981. Dfl. 69.90 (223 pages) ISBN 90 70052 13 (1982) (0)
Britton Chance, 1913–2010 (2011) (0)
The prevention of transmission of mitochondrial DNA mutations using pronuclear transfer (2013) (0)
Mitochondria1 involvement in Parkinson's disease (1993) (0)
[The inguinal hernia today. Technical notes]. (1989) (0)
Branching Enzyme Deficiency: Expanding The Clinical Spectrum (P6.108) (2014) (0)
Defective Muscle Mitochondrial Biogenesis in Spinal Muscular Atrophy. (P7.004) (2014) (0)
mtDNA deletions in Kearns‐Sayre (1990) (0)
Mitochondrial encephalomyopathies: problems in pathogenesis (1997) (0)
33 – Mitochondrial Disorders (2007) (0)
Coenzyme Q10 in the CSF of MS patients (2008) (0)
Mitochondrial DNA deletions and ophthalmoplegia (I: Reply) (1990) (0)
Adenovirus-mediated myophosphorylase gene transfer in myophosphorylase-deficient cells in vitro (1998) (0)
Clinical and molecular genetics spectrum of Thymidine Kinase 2 deficiency (P5.067) (2015) (0)
Acid maltase deficiency: reincarnation in cultured muscle fibers of the typical morphological and biochemical defects. (1976) (0)
Gene therapy trials in the ovine model of McArdle's disease (2001) (0)
impaired skeletal muscle oxygenation A modular NIRS system for clinical measurement of (2015) (0)
How Wide are Mitochondria Involved in Exercise Intolerance (2002) (0)
Reply: mtDNA deletions in kearns-sayre (1990) (0)
Anita E. Harding (1952-1995) (1996) (0)
Mtochonrial Neurology: A Tale of Two Genomes (2021) (0)
Contents, Vol. 58, Supplement 1, 1990 (1990) (0)
New Aspects of Metabolic Myopathies (1999) (0)
Infantile Mitochondrial Encephalomyopathy Due to a Novel Mutation in ACAD9 (P03.017) (2013) (0)
[Use of monofilament prosthesis in inguinal hernia treatment: cost-benefit ratio]. (2001) (0)
Oxidative Phosphorylation at the fin de siècle Matti Saraste (1999) (0)
[Retroperitoneal neurilemmoma (anatomo-pathologic and clinical considerations)]. (1987) (0)
PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
Edinburgh Research Explorer Loss of myelin-associated glycoprotein in kearns-sayre syndrome (2018) (0)
Mice lacking Cox10 in T-lymphocytes recapitulate the immune phenotype of a cohort of patients with primary mitochondrial disease (2015) (0)
Table 2. [Signs and Symptoms Seen in 62 Individuals with MERRF]. (2015) (0)
Molecular cloning of human phosphoglycerate mutase complementary dna (1985) (0)
JAMA Neurology Peer Reviewers in 2017. (2018) (0)
Eduardo Bonilla MD (1937–2010) (2010) (0)
Neurology Ser(ucn) (0)
Sideroflexin-4 Defects Cause A New Infantile Mitochondrial Disorder Affecting Hematopoietic And Central Nervous Systems. (P7.328) (2014) (0)
Case report Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNA Cys gene (2007) (0)
Commentary (1998) (0)
[Table, GeneReview Scope]. (2011) (0)
[The operative risk in the surgical treatment of bile duct stones]. (2002) (0)
Table 3. [MELAS: Initial Clinical Manifestation]. (2013) (0)
Glycogen Storage Diseases (2015) (0)
Primary AMP deaminase deficiency in childhood (1997) (0)
Table 1. [Summary of Molecular Genetic Testing Used in MERRF]. (2015) (0)
Dr. Horia Radu (1979) (0)
Lenient discharge criteria and hospital readmissions for pediatric palatoplasty patients (1999) (0)
Faculty Opinions recommendation of PGC-1α, a potential therapeutic target for early intervention in Parkinson's disease. (2010) (0)
IN58-TH-03 Myopathy in metabolic disorders (carbohydrate and lipid) (2009) (0)
Patients with Myophosphorylase Deficiency (McArdle Disease) (2007) (0)
P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? (2010) (0)
Letter to the editor (1995) (0)
Table 2. [Signs and Symptoms in 86 Individuals with KSS]. (2011) (0)
Biochemical studies inmitochondrial encephalomyopathy (1987) (0)
G.P.16.03. A clinical and genetic study of 2 patients with myopathy and phosphorylase kinase deficiency (glycogenosis type VIII) (2008) (0)
Next-Generation Sequencing Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted (2012) (0)
42 – Mitochondrial Diseases (2017) (0)
Autosomal dominant myoglobinuria (1987) (0)
Faculty Opinions recommendation of Evidence for aerobic ATP synthesis in isolated myelin vesicles. (2010) (0)
Gene Product in Duchenne Muscular Dystrophy (DMD): Biochemical and Morphological Data Indicate that Nebulin is a Candidate Protein (1987) (0)
[Molecular studies in Cuban patients with progressive external ophthalmoplegia]. (2000) (0)
Faculty Opinions recommendation of The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. (2009) (0)
The effect of ezetimibe and simvastatin on coenzyme Q10 levels in healthy men (2005) (0)
1141 A NEW FORM OF X-LINKED GLYCOGEN STORAGE DISEASE (1981) (0)
Phenotypical expression and molecular genetics of the nt-3243 mutation in the mitochondrial tRNA(LEU(UUR)) gene (1995) (0)
Differences in Glycolysis Between Fetal and Non-fetal Fibroblast Cell Lines (1970) (0)
Reply (1986) (0)
G.P.16.08. Two novel mutations associated with muscle phosphoglycerate mutase (PGAM) deficiency (2008) (0)
Clinical heterogeneity in mtDNA 8993T>C point mutation (1994) (0)
[Clinical and biochemical heterogeneity of childhood cytochrome C deficiency. Review of the literature]. (1991) (0)
A mouse model of facioscapulohumeral muscular dystrophy (2005) (0)
[Role of the vasa vasorum in the process of remote vascularization of the Wesolowski Weavenit arterial prosthesis (experimental research)]. (1977) (0)
Tu1996 Glycogen Metabolism Defects Produce Gastrointestinal Myopathy With Polyglucosan Bodies (2012) (0)
TK2 Mutation Presenting as Indolent Myopathy (P07.026) (2013) (0)
[The role of integrated radiosurgical therapy of rectal cancer]. (1989) (0)
ROS Production, Oxidative Stress, and Cell Death Correlate with the Level of CoQ(10) in Fibroblast Models of CoQ(10) Deficiency (2010) (0)
[Nutritional habits and colon-rectal tumours]. (2004) (0)
[Hormone treatment of metastasizing breast carcinoma]. (1981) (0)
[Considerations on experimental renal autotransplants]. (1968) (0)
[The indication for surgery in the treatment of duodenal ulcer. Current trends]. (1989) (0)
[Liver scintigraphy using 99mTc-HIDA in the study of biliary-digestive anastomosis]. (1986) (0)
[Hemodynamics of the lesser circulation in experimental autotransplantation of the lung]. (1968) (0)
[Experimental study on the chronic occlusion of the left renal vein. Physiopathologic introduction to the spleno-renal termino-terminal anostomosis with preservation of the kidney]. (1968) (0)
[Clinical considerations of jejunal carcinoma]. (1990) (0)
[Current trends in the diagnosis of acute pancreatitis]. (1989) (0)
[Experimental autotransplantation of the lung. Histological study]. (1968) (0)
The Diagnosis of Mitochondrial Diseases (2010) (0)
[Crohn disease: current diagnostic and therapeutic approaches]. (1988) (0)
M.P.4.08 Are oxidative capacity and glycolysis affected in X-linked phosphorylase b kinase deficiency? (2007) (0)
[Care and rehabilitation of colostomized patients]. (1989) (0)
[The immunohistochemical demonstration of intracytoplasmic estradiol in colorectal neoplasms]. (1990) (0)
[Immunotherapy in the treatment of colorectal cancers in the aged]. (1982) (0)
M.P.4.13 PNPLA2 mutations in two families with neutral lipid storage myopathy (2007) (0)
[Carcinoma of the gallbladder. State of the art]. (1993) (0)
[Barrett esophagus. The diagnostic and therapeutic aspects]. (1994) (0)
Faculty Opinions recommendation of TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. (2008) (0)
[A case of mycotic aneurysm of the superficial femoral artery]. (1981) (0)
Short communication A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease (2002) (0)
[Carcinoma of the gastric stump]. (1998) (0)
Letters to the editor (1992) (0)
neuromuscular disorders . and glycolysis in various human Enzymes of the glycogen cycle (0)
M.P.3.05 CoQ10 deficiency: Clinical and genetic studies (2007) (0)
POMPE DISEASE AND METABOLIC DISORDERS P.64Deep clinic and histopathologic phenotyping in a cohort of 17 patients with GYG1-related polyglucosan body myopathy (2019) (0)
Cerebellar Ataxia with CoQ10 Deficiency Due to a Novel Mutation in ADCK3 (P6.057) (2014) (0)
G.P.16.04. Branching enzyme deficiency should be considered in the differential diagnosis of severe congenital hypotonia (2008) (0)
[Role of trans-parieto-hepatic cholangiography in cholestatic jaundice]. (1988) (0)
Enzymes oftheglycogen cycle andglycolysis in various humanneuromuscular disorders (1967) (0)
[A follow-up protocol in rectal cancer. Preliminary results]. (1989) (0)
1556 NEONATAL CARNITINE DEFICIENCY WITH MUSCLE AND CNS DETERIORATION SECONDARY TO ABSENT 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) RESPONSIVE TO SUBSTRATE REPLACEMENT (1981) (0)
A novel mtDNA deletion associated with primary adrenal insufficiency.† 594 (1997) (0)
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease (2022) (0)
[A case of intestinal occlusion caused by a Meckel' diverticulum (etiopathogenetic, diagnostic and clinical considerations)]. (1984) (0)
Mitochondrial Dysfunction, Epilepsy, and Antiepileptic Drugs (2002) (0)
[Lipid metabolism disorder as a cause of eczema]. (1969) (0)
List of contributors. (2019) (0)
Rolf Luft, MD, PhD (1914-2007) (2007) (0)
[On an unusual case of heart disease of the mitral type "without mitral defect" appearing in an 8-year-old girl]. (1968) (0)
[Use of bronchographic examinations in experimental autotransplantation of the lung]. (1968) (0)
Familial systemic carnitine deficiency. (1984) (0)
[Current trends in the treatment of neoplastic occlusion of the colon]. (1989) (0)
Genetic Heterogeneity of Myophosphorylase Deficiency (McArdle's Disease) (1987) (0)
Table 4. [Clinical Features of 110 Individuals with MELAS]. (2013) (0)
MERRF and Kearns-Sayre Overlap Syndrome Due to the Mitochondrial DNA M.3291T>C Mutation (P07.209) (2012) (0)
A Mouse Model Of Adult Polyglucosan Body Disease (APBD), A Late Onset Variant Of Glycogen Storage Disease Type IV (GSD IV). (P1.054) (2014) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Mitochondrial DNA Deletion Syndromes]. (2011) (0)
[On an unusual case of heart disease of the mitral type "without mitral defect" appearing in an 8-year-old girl]. (1968) (0)
Carnitine-palmityl-transferase deficiency myopathy: report of two cases with enzymatic muscle study (1983) (0)
Chapter 11 – Sporadic Myopathy (2016) (0)
Use of single strand conformation polymorphisms to detect point mutations in human mitochondrial dna (1991) (0)
Luft's Disease (2004) (0)
[The role of clinical staging in carcinoma of the rectum]. (1988) (0)
Pathophysiology of metabolic myopathies (2002) (0)
[Table, Molecular Genetic Pathogenesis]. (2015) (0)
Literature abstract (2009) (0)
Introduction: mitochondrial encephalomyopathies. (2000) (0)
New, noninvasive test for late-onset acid maltase deficiency: assay of urinary enzyme. (1976) (0)
Visual memory failure presages conversion to MELAS phenotype (2022) (0)
A 16 Year Prospective Study of Autosomal Dominant Progressive External Ophthalmoplegia Due to a PEO1 Mutation in a Large Family (P07.021) (2013) (0)
[Prostaglandins and gastric cancer: a preliminary study]. (1989) (0)
[Trans-anal resection of low rectal neoplasms]. (2001) (0)
Glycogen Breakdown Is Preserved during Exercise in Severe Muscle Phosphorylase B Kinase Deficiency (P07.029) (2013) (0)
Table 3. [Selected Mitochondrial DNA Deletion Syndrome Pathogenic Variants]. (2011) (0)
[Jejunal leiomyosarcoma as a rare cause of digestive hemorrhage]. (1986) (0)
THE CLINICAL SPECTRUM OF MTDNA DEPLETION DUE TO MUTATIONS IN THE THYMIDINE KINASE (TK2) GENE (2006) (0)
Reply (1985) (0)
Clinical Heterogeneity Associated with the Mitochondrial DNA C3303T Point Mutation ♦ 734 (1998) (0)
X-Linked Recessive Glycogen Storage Cardioskeletal Myopathy with Normal Acid-Maltase (1987) (0)
[Current diagnostic-therapeutic protocols in upper digestive hemorrhage]. (1988) (0)

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