Michio Hirano

Q: What Schools Are Affiliated With Michio Hirano

Michio Hirano is affiliated with the following schools: California Institute of Technology, Albert Einstein College of Medicine, Princeton University, Stanford University, Case Western Reserve University, Columbia University, University of Bologna

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Michio Hirano

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Physics

Michio Hirano's Degrees

PhD Physics Stanford University

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Michio Hirano'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

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. (1999) (876)
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease) (2000) (857)
Human mitochondrial DNA: roles of inherited and somatic mutations (2012) (625)
Mitochondrial diseases (2016) (588)
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene (1999) (565)
MELAS: Clinical features, biochemistry, and molecular genetics (1992) (481)
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)
Mmh/Ogg1 gene inactivation results in accumulation of 8-hydroxyguanine in mice. (2000) (354)
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study (2011) (346)
MELAS: An original case and clinical criteria for diagnosis (1992) (339)
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)
Topical Review: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): Current Concepts (1994) (315)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (1994) (311)
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage. (2005) (300)
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)
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency (2001) (240)
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)
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants (2012) (227)
Novel cell lines derived from adult human ventricular cardiomyocytes. (2005) (222)
Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase* (2002) (215)
Clinicopathological features of genetically confirmed Danon disease (2002) (214)
Dichloroacetate causes toxic neuropathy in MELAS (2006) (211)
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. (2009) (208)
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency (1997) (194)
GD3 ganglioside is a glycolipid characteristic of immature neuroectodermal cells (1985) (191)
Cerebellar ataxia and coenzyme Q10 deficiency (2003) (189)
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. (2012) (185)
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. (2003) (181)
Mitochondrial involvement in Alzheimer's disease. (1999) (178)
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A Disease of Two Genomes (2004) (178)
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition (2005) (177)
Gliogenesis in rat spinal cord: Evidence for origin of astrocytes and oligodendrocytes from radial precursors (1988) (177)
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (2011) (177)
Acute quadriplegic myopathy (1992) (175)
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene (1999) (172)
Coenzyme Q and mitochondrial disease. (2010) (172)
Human Coenzyme Q10 Deficiency (2006) (172)
Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation (2005) (167)
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations (2004) (165)
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. (2003) (165)
Mitochondrial DNA depletion and dGK gene mutations (2002) (157)
New treatments for mitochondrial disease—no time to drop our standards (2013) (155)
Multiple mitochondria1 DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy (1996) (154)
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency (2008) (154)
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. (2006) (154)
Mitochondria in neuromuscular disorders. (1998) (153)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE (2006) (149)
Mitochondrial encephalomyopathies: an update (2005) (143)
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency (2010) (140)
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. (2007) (137)
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)
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. (2016) (134)
Genetic Drift Can Compromise Mitochondrial Replacement by Nuclear Transfer in Human Oocytes. (2016) (133)
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes. (1997) (133)
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype (2011) (133)
POLG mutations and Alpers syndrome (2005) (132)
Differentiation of astrocytes and oligodendrocytes from germinal matrix cells in primary culture (1986) (128)
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. (2009) (126)
Mutated α-synuclein gene in two Greek kindreds with familial PD: Incomplete penetrance? (1999) (125)
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. (2015) (123)
Does linezolid cause lactic acidosis by inhibiting mitochondrial protein synthesis? (2005) (123)
A Diagnostic Algorithm for Metabolic Myopathies (2010) (122)
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (2009) (118)
Mitochondrial DNA Deletion Syndromes (2011) (117)
Multifocal motor neuropathy with conduction block (1992) (117)
Mitochondrial DNA depletion (2002) (116)
Current status of SOD1 mutations in familial amyotrophic lateral sclerosis. (2000) (116)
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach (2011) (114)
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. (2003) (113)
Therapeutic prospects for mitochondrial disease. (2010) (112)
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. (2004) (109)
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. (2008) (108)
Human CoQ10 deficiencies (2008) (108)
Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects (2010) (108)
A functionally dominant mitochondrial DNA mutation. (2008) (107)
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. (2008) (104)
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. (2001) (104)
Infusion of platelets transiently reduces nucleoside overload in MNGIE (2006) (103)
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. (2008) (103)
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. (1999) (103)
Primary and secondary CoQ(10) deficiencies in humans. (2011) (103)
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy (2009) (102)
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency (2012) (101)
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)
Glycogen branching enzyme deficiency in adult polyglucosan body disease (1993) (100)
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. (2003) (99)
Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. (2000) (99)
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. (1998) (94)
Emerging therapies for mitochondrial diseases. (2018) (94)
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. (2003) (94)
Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines. (2000) (93)
Mitochondrial encephalomyopathies: Clinical and molecular analysis (1994) (92)
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene (2008) (91)
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. (2012) (90)
Mutations in coenzyme Q10 biosynthetic genes. (2007) (89)
MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria (2016) (86)
Autophagic Vacuoles with Sarcolemmal Features Delineate Danon Disease and Related Myopathies (2005) (85)
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy (1998) (84)
Senataxin mutations and amyotrophic lateral sclerosis (2011) (84)
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. (2002) (83)
176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency (2012) (83)
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies (2003) (82)
Clinical syndromes associated with ragged red fibers. (1991) (79)
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss (2016) (79)
Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy* (2006) (76)
Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses (1998) (76)
Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency (2014) (74)
Mitochondrial DNA and RNA processing in MELAS (1996) (74)
Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency (2017) (73)
Inhibition of NADPH oxidase 2 (NOX2) prevents sepsis-induced cardiomyopathy by improving calcium handling and mitochondrial function. (2017) (73)
Autogenous regulation of the gene for transcription termination factor rho in Escherichia coli: localization and function of its attenuators (1986) (72)
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (2007) (72)
Chromosome 12‐linked autosomal dominant scapuloperoneal muscular dystrophy (1996) (71)
MNGIE: from nuclear DNA to mitochondrial DNA (2001) (71)
MNGIE neuropathy: Five cases mimicking chronic inflammatory demyelinating polyneuropathy (2004) (70)
CoQ10 deficiency diseases in adults. (2007) (69)
Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic? (1997) (69)
Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. (2007) (69)
Cerebral lactic acidosis correlates with neurological impairment in MELAS (2004) (69)
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene. (2003) (69)
Clinical and genetic analysis of lipid storage myopathies (2009) (68)
ANO10 mutations cause ataxia and coenzyme Q10 deficiency (2014) (68)
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches (2007) (68)
Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes (2016) (67)
Clinical features and genetics of myoclonic epilepsy with ragged red fibers. (2002) (67)
Pilot trial of albuterol in spinal muscular atrophy. (2003) (66)
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome (2017) (66)
Retrospective natural history of thymidine kinase 2 deficiency (2018) (66)
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. (2005) (66)
Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity (2005) (65)
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. (2014) (65)
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. (2012) (65)
Protean phenotypic features of the A3243G mitochondrial DNA mutation. (2009) (60)
Diagnostic odyssey of patients with mitochondrial disease (2018) (60)
Natural underlying mtDNA heteroplasmy as a potential source of intra‐person hiPSC variability (2016) (59)
Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy (2019) (59)
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2 (2003) (59)
Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. (2014) (59)
Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase. (1992) (59)
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene (2010) (58)
Mutated alpha-synuclein gene in two Greek kindreds with familial PD: incomplete penetrance? (1999) (57)
Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine. (2006) (56)
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. (2013) (56)
Mitochondria and the heart (2001) (55)
Familial occurrence of adiposis dolorosa. (2001) (55)
Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1 (2005) (55)
Tissue‐specific oxidative stress and loss of mitochondria in CoQ‐deficient Pdss2 mutant mice (2013) (55)
Primary coenzyme Q10 deficiency and the brain (2003) (55)
Defects of Intergenomic Communication: Where Do We Stand? (2000) (54)
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. (2008) (53)
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA (2002) (53)
Reversion of mtDNA depletion in a patient with TK2 deficiency (2003) (53)
Thymidine phosphorylase mutations cause instability of mitochondrial DNA. (2005) (53)
ANT1, Twinkle, POLG, and TP (2001) (52)
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. (2021) (51)
Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE (2011) (51)
What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr? (2012) (51)
Infantile autophagic vacuolar myopathy is distinct from Danon disease (2001) (49)
A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome (2003) (49)
Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography (2018) (48)
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. (2007) (48)
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. (2008) (48)
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. (2016) (46)
Effects of Inhibiting CoQ10 Biosynthesis with 4-nitrobenzoate in Human Fibroblasts (2012) (45)
Neonatal presentations of mitochondrial metabolic disorders. (1999) (45)
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1). (2009) (45)
Autosomal dominant limb-girdle muscular dystrophy (2001) (44)
MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation (2004) (44)
International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16–18 November 2016, Rome, Italy (2017) (44)
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis (2018) (43)
Characterization of Danon disease in a male patient and his affected mother (2003) (42)
Aortic rupture in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes. (2006) (42)
Phenotypic variability in a Spanish family with MNGIE (2002) (41)
Severe Lactic Acidosis Associated with Linezolid Use in a Patient with the Mitochondrial DNA A2706G Polymorphism (2007) (41)
Mitochondrial encephalomyopathies: therapeutic approaches (2000) (41)
Serum glycylproline p-nitroanilidase activity in rheumatoid arthritis and systemic lupus erythematosus. (1978) (40)
MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. (2004) (40)
Myopathy and parkinsonism in phosphoglycerate kinase deficiency (2010) (39)
Onset and organ specificity of Tk2 deficiency depends on Tk1 down-regulation and transcriptional compensation. (2011) (37)
Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation. (2002) (37)
Mitochondria and heart disease. (1998) (37)
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. (2016) (36)
Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. (1992) (36)
Clinical Presentations of Coenzyme Q10 Deficiency Syndrome (2014) (36)
'Outbreak' of optic and peripheral neuropathy in Cuba? (1993) (35)
Branching enzyme deficiency: expanding the clinical spectrum. (2014) (35)
Serum glycylproline p-nitroanilidase activity in blood cancers. (1977) (34)
Pathogenesis and treatment of mitochondrial disorders. (2009) (33)
Thymidine Phosphorylase Participates in Platelet Signaling and Promotes Thrombosis (2014) (33)
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. (2012) (32)
Construction and characterization of plasmid and lambda phage vector systems for study of transcriptional control in Escherichia coli. (1987) (32)
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. (2003) (32)
Increased blood–brain barrier permeability with thymidine phosphorylase deficiency (2004) (31)
TK2 mutation presenting as indolent myopathy (2013) (30)
Genomic organization of the mouse Msh4 gene producing bicistronic, chimeric and antisense mRNA. (2004) (30)
Alteration of Nucleotide Metabolism: A New Mechanism for Mitochondrial Disorders (2003) (29)
A Novel ND3 Mitochondrial DNA Mutation in Three Korean Children With Basal Ganglia Lesions and Complex I Deficiency (2007) (29)
A novel complex neurological phenotype due to a homozygous mutation in FDX2 (2018) (28)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network (2020) (28)
Thymidine Phosphorylase Deficiency Causes MNGIE: An Autosomal Recessive Mitochondrial Disorder (2004) (28)
Human Aging DNA Methylation Signatures are Conserved but Accelerated in Cultured Fibroblasts (2019) (27)
Benign cysts in the central nervous system: Neuropathological observations of the cyst walls (2004) (27)
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. (2010) (26)
Leber’s hereditary optic neuropathy mitochondrial DNA mutations in familial multiple sclerosis (1999) (26)
Amyotrophic lateral sclerosis with ragged-red fibers. (2008) (26)
Coenzyme Q10 deficiencies in neuromuscular diseases. (2009) (26)
Ubiquitin expression in acute steroid myopathy with loss of myosin thick filaments (1996) (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)
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. (2010) (24)
Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes. (2006) (24)
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. (2018) (24)
Late-onset thymidine kinase 2 deficiency: a review of 18 cases (2019) (24)
Mitochondrial DNA mutations in an outbreak of optic neuropathy in Cuba (1994) (24)
Clinical Course of a Cohort in the Cuban Epidemic Optic and Peripheral Neuropathy (1997) (24)
Re-evaluation of the phenotype caused by the common MATR3 p.Ser85Cys mutation in a new family (2015) (24)
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. (2016) (24)
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations (2019) (23)
MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation (2011) (23)
Benign cystic lesions in the central nervous system (1988) (23)
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies (2020) (23)
Leber's hereditary optic neuropathy mitochondrial DNA mutations in normal-tension glaucoma (2001) (22)
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient (2005) (22)
Pathomechanisms in Coenzyme Q10-Deficient Human Fibroblasts (2014) (22)
Is refractory epilepsy due to genetically determined resistance to antiepileptic drugs? (2003) (22)
A polymorphic polymerase. (2006) (22)
Autosomal dominant limb-girdle muscular dystrophy: A large kindred with evidence for anticipation (2001) (22)
SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation (2020) (21)
Mitochondrial disease patients' perception of dietary supplements' use. (2016) (21)
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (2020) (21)
Cytochrome oxidase deficiency: progress and problems (1994) (21)
Exercise-induced muscle “burning,” fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly (2002) (21)
Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis (2011) (20)
Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy (2009) (20)
Paracrine Stimulation of Endothelial Cell Motility and Angiogenesis by Platelet-Derived Deoxyribose-1-Phosphate (2010) (20)
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency (2020) (20)
Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. (2014) (20)
Detection of ATP-dependent conformational change in the F1 portion and beta subunit of Escherichia coli H+-ATPase using 8-anilinonaphthalene-1-sulfonate. (1984) (18)
Analysis of mtDNA deletions in muscle by in situ hybridization (2000) (18)
Leber’s Hereditary Optic Neuropathy Mitochondrial DNA Mutations at Nucleotides 11778 and 3460 in Multiple Sclerosis (1999) (18)
A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. (2012) (18)
Mitochondrial diseases in North America (2020) (18)
Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE (2017) (18)
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy. (2016) (18)
Thymidine Kinase 2 Deficiency-Induced Mitochondrial DNA Depletion Causes Abnormal Development of Adipose Tissues and Adipokine Levels in Mice (2011) (18)
Hybrid ATPase's formed from subunits of coupling factor F1's of Escherichia coli and thermophilic bacterium PS3. (1982) (17)
Selective muscle fiber loss and molecular compensation in mitochondrial myopathy due to TK2 deficiency (2008) (17)
Advances in primary mitochondrial myopathies. (2019) (17)
Congenital or late-onset myopathy in patients with the T14709C mtDNA mutation (2005) (17)
Endothelin-1 evoked an increase and oscillations in cytosolic calcium concentration in adherent single human platelets and increased GMP-140 (P-selectin) in platelet suspension. (1995) (17)
Disentangling (Epi)Genetic and Environmental Contributions to the Mitochondrial 3243A>G Mutation Phenotype: Phenotypic Destiny in Mitochondrial Disease? (2016) (16)
Cardiac transplantation in Friedreich Ataxia: Extended follow-up (2017) (16)
Bioavailability and cytosolic kinases modulate response to deoxynucleoside therapy in TK2 deficiency (2019) (16)
Dystonia-Ataxia with early handwriting deterioration in COQ8A mutation carriers: A case series and literature review. (2019) (15)
The mitochondrial respiratory chain and its disorders (2006) (15)
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (2006) (15)
Leber hereditary optic neuropathy plus dystonia, and transverse myelitis due to double mutations in MT-ND4 and MT-ND6 (2019) (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 neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses. (2002) (15)
Ocular findings in mitochondrial neurogastrointestinal encephalomyopathy: a case report (2004) (14)
Fatigue in primary genetic mitochondrial disease: No rest for the weary (2019) (14)
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome (2020) (14)
Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. (2012) (14)
A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (2007) (14)
A novel tRNAVal mitochondrial DNA mutation causing MELAS (2008) (14)
Cerebral Mitochondrial Microangiopathy Leads to Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalopathy (2018) (14)
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians (2008) (14)
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy (2020) (13)
Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia (1997) (13)
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. (2016) (13)
Measurement of mitochondrial dNTP pools. (2012) (13)
ANO 10 mutations cause ataxia and coenzyme Q 10 deficiency (2014) (13)
POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family (2012) (13)
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder (2017) (12)
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis (2008) (12)
Recurrent myoglobinuria in a sporadic patient with a novel mitochondrial DNA tRNAIle mutation (2011) (12)
Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy (2014) (11)
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome (2018) (11)
LAMP-2 deficiency (Danon disease). (2007) (11)
Presumed orbital hemangioma associated with the blue rubber bleb nevus syndrome. (1996) (11)
Mutant COQ2 in multiple-system atrophy. (2014) (11)
Human CoQ 10 deficiencies (2013) (11)
Alpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy (2019) (10)
Correction: Inhibition of NAPDH Oxidase 2 (NOX2) Prevents Oxidative Stress and Mitochondrial Abnormalities Caused by Saturated Fat in Cardiomyocytes (2017) (10)
Mitochondrial Neurogastrointestinal Encephalopathy Disease (2016) (10)
Mitochondrial disease patients' perception of dietary supplements' use (2015) (10)
Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity. (2011) (9)
Achalasia as the Harbinger of a Novel Mitochondrial Disorder in Childhood (2005) (9)
Advances in purine and pyrimidine metabolism in health and diseases (2016) (9)
Autocrine amplification of integrin αIIbβ3 activation and platelet adhesive responses by deoxyribose-1-phosphate (2013) (9)
Biochemical and genetic analysis of Leigh syndrome patients in Korea (2008) (9)
OxPhos Dysfunction Causes Hypermetabolism and Reduces Lifespan in Cells and in Patients with Mitochondrial Diseases (2022) (9)
Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. (2013) (9)
Acute quadriplegic myopathy (1994) (9)
Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS (2014) (9)
Pituitary adenoma revealed by paracentral junctional scotoma of traquair. (1997) (9)
MtDNA maintenance and stability genes: MNGIE and mtDNA depletion syndromes (2004) (9)
Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms. (2009) (9)
[Clinical manifestation and molecular identification of patients with Leber's hereditary optic neuropathy in a national reference center for neuro-ophthalmology in Cuba]. (1999) (8)
Fhl1 W122S causes loss of protein function and late-onset mild myopathy. (2015) (8)
Weighing in on Leber hereditary optic neuropathy: effects of mitochondrial mass. (2014) (8)
VAPB: new genetic clues to the pathogenesis of ALS. (2008) (8)
A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations (2021) (7)
Use of intravenous pulsed cyclophosphamide in severe, generalized myasthenia gravis. (2003) (7)
Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency (2021) (7)
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides (2020) (7)
Analysis of human mitochondrial DNA mutations. (2003) (7)
Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene (2014) (7)
Chronic Glucocorticoid Stress Reveals Increased Energy Expenditure and Accelerated Aging as Cellular Features of Allostatic Load (2022) (7)
Cellular and molecular studies in muscle and cultures from patients with multiple mitochondrial DNA deletions (1999) (7)
Cardiomyopathy and altered integrin-actin signaling in Fhl1 mutant female mice (2018) (7)
Restoring balance to ataxia with coenzyme Q10 deficiency (2006) (6)
Chapter 3 Molecular Genetic Basis of the Mitochondrial Encephalomyopathies (2002) (6)
Mitochondrial diseases. (2002) (6)
Transmitochondrial mice: proof of principle and promises. (2001) (6)
Spinal muscular atrophy and mitochondrial DNA depletion (2003) (6)
A novel tRNA<ce:sup loc=post>Val</ce:sup> mitochondrial DNA mutation causing MELAS (2008) (6)
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases (2023) (5)
Mutation in an mtDNA Protein-Coding Gene (2013) (5)
Mitochondrial Diseases: A Clinical and Molecular History. (2016) (5)
The Alpha-1-Antitrypsin Promoter Improves the Efficacy of an AAV Vector for the Treatment of MNGIE. (2019) (5)
Pedaling from genotype to phenotype. (2006) (5)
VMA21 Deficiency: A Case of Myocyte Indigestion (2009) (5)
Biochemical Studies of Patients with Cuban Epidemic Neuropathy (2001) (5)
Growth differentiation factor-15 as a biomarker of strength and recovery in survivors of acute respiratory failure (2019) (5)
Recalcitrant vomiting, disturbed eye movements, and leukoencephalopathy. Mitochondrial neurogastrointestinal encephalomyopathy. (2009) (4)
Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE. Authors' replies (2007) (4)
Leber hereditary optic neuropathy: biochemical lights in a blurry scenario. (2005) (4)
Epilepsy in mitochondrial encephalomyopathies. (1991) (4)
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm. (2014) (4)
Cerebellar Ataxia and CoQ10 Deficiency. (2013) (4)
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. (2013) (4)
A novel POLG gene mutation in a patient with SANDO. (2012) (4)
Isolation and characterization of rho mutants of Escherichia coli with increased transcription termination activities (2004) (4)
Molecular studies in cuban patients with progressive external ophthalmoplegia. (2000) (3)
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency (2021) (3)
Sustained Complete Metabolic Remission After Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE). (2009) (3)
Two strikes against mycophenolate mofetil therapy for myasthenia gravis (2009) (3)
Vitamin status and mitochondrial DNA mutations in patients with incomplete recovery from an epidemic optic neuropathy in Cuba (1996) (3)
Editing the Mitochondrial Genome. (2020) (3)
A De Novo Mutation in MTND6 Causes Generalized Dystonia in 2 Unrelated Children (2016) (3)
Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE) (2019) (3)
Introduction: the birth of mitochondrial medicine (2006) (3)
Drug Effects in Patients with Mitochondrial Diseases (2008) (3)
The North American mitochondrial disease registry (2020) (3)
Nuclear genome transfer in human oocytes to prevent transmission of mtDNA mutations (2013) (3)
Risk mitigation behaviors to prevent infection in the mitochondrial disease community during the COVID-19 pandemic (2021) (3)
Does increased superoxide dismutase activity really cause muscular dystrophy? (1999) (3)
Rod-sparing paraneoplastic retinopathy, opsoclonus, and peripheral neuropathy due to small cell lung carcinoma (1997) (3)
RACE using only a gene-specific primer (2004) (2)
Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251. (2003) (2)
Metabolic myopathies. (2002) (2)
Stroke-Like Episodes in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) (2013) (2)
Cuban optic neuropathy (1995) (2)
232nd ENMC international workshop: Recommendations for treatment of mitochondrial DNA maintenance disorders. 16 – 18 June 2017, Heemskerk, The Netherlands (2022) (2)
New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders (2018) (2)
Neurological diseases due to mitochondrial DNA mutations: concepts and problems in pathogenesis. (1991) (2)
Myoclonus Epilepsy with Ragged-Red Fibers (2010) (2)
Recombinant enzyme replacement therapy for infantile-onset Pompe disease (2008) (2)
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies (2022) (2)
Deoxypyrimidine Monophosphates Treatment for Thymidine Kinase 2 Deficiency (IN1-2.003) (2013) (2)
Optic and Peripheral Neuropathy in Cuba-Reply (1994) (1)
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). (2022) (1)
A Novel Potential Therapy for Spinal Muscular Atrophy (2003) (1)
A Novel RRM1 p.381R>H Mutation Causing MNGIE-like Disease (P5.072) (2016) (1)
New MPV17 Mutations Associated with Multiple Deletions in Skeletal Muscle (S55.002) (2012) (1)
Mitochondrial Changes in Aging with Particular Reference to Muscle, and Possible Clinical Consequences (2011) (1)
Does ACE inhibitor therapy delay onset and progression of cardiac dysfunction in duchenne muscular dystrophy? (2006) (1)
Myoclonic Epilepsy with Ragged Red Fibers (MERRF) (2010) (1)
Clinical and Genetic Heterogeneity of CoQ(10) Deficiency: A Study of 75 Patients (2011) (1)
Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy. (2019) (1)
Genetic subgroup learnings from MMPOWER-3 trial: Elamipretide improved six-minute walk test in individuals with mtDNA replisome disorders (2022) (1)
Time to Harmonize Mitochondrial Syndrome Nomenclature and Classification: A Consensus from the North American Mitochondrial Disease Consortium (Namdc) (2022) (1)
Faculty Opinions recommendation of Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. (2007) (1)
P0954 CACHEXIA AS THE ONLY PRESENTING SYMPTOM OF MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY (MNGIE) WITHOUT GASTROINTESTINAL INVOLVEMENT (2004) (1)
Implications of mitochondrial DNA mutations in human induced pluripotent stem cells (2021) (1)
MitoExome Sequencing Reveals a Mutation in the Mitochondrial MRPL51 Gene Causing Infantile Encephalopathy (P05.139) (2012) (1)
Gastrointestinal manifestations of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (2001) (1)
Abstract 16449: miR-195 Regulates Myocardial SIRT3 Expression and Mitochondrial Enzyme Acetylation (2015) (1)
ACUTE QUADRIPLEGIC MYOPATHY. REPLY (1994) (1)
Genetics of primary CoQ10 deficiency (2006) (1)
Regulatory environment for novel therapeutic development in mitochondrial diseases (2020) (1)
A First Step in Viral Gene Therapy for Muscular Dystrophy (2010) (1)
[Leber's hereditary optic neuropathy and its possible relation to a recent epidemic in Cuba]. (1999) (1)
Mitochondria and Multiple Sclerosis (2008) (1)
Leukocyte cytokine responses in adult patients with mitochondrial DNA defects (2021) (1)
Early-Onset Familial Parkinsonism Due to POLG (2006) (1)
Coenzyme Q10 Deficiency and Cerebellar Ataxia (2014) (1)
Three-dimensional analysis of mitochondrial crista ultrastructure in a Leigh Syndrome patient by in situ cryo-electron tomography (2018) (0)
CUBAN OPTIC NEUROPATHY. AUTHORS' REPLY (1995) (0)
P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? (2010) (0)
P.5.12 A mutation in TNPO3 causes LGMD1F and characteristic nuclear pathology (2013) (0)
The legacy of Tracy J. Putnam and H. Houston Merritt: Modern neurology in the United States. By Lewis P. Rowland, M.D. Oxford University Press, New York, 2008 (© 2009). Hardcover. 176 pp. $24.95. ISBN13: 9780195379525. ISBN10: 0195379527 (2009) (0)
Modafinil decreases hypersomnolence and improves mood in patients with myotonic dystrophy (2004) (0)
A Novel Intronic Mutation in TK2 Affects mRNA Expression and Causes Adult-Onset Mitochondrial Depletion Syndrome (P5.071) (2016) (0)
Whole-exome sequencing detects PYGM variants in two adults with McArdle disease (2022) (0)
MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES P.315 Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency (2020) (0)
MERRF and Kearns-Sayre Overlap Syndrome Due to the Mitochondrial DNA M.3291T>C Mutation (P07.209) (2012) (0)
G.P.7.10 Clinical and genetic characterization of a new X-linked dominant scapuloperoneal myopathy (2007) (0)
MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES P.313 Design of a phase 3 prospective clinical study for the treatment of thymidine kinase 2 deficiency (TK2d) (2020) (0)
Results Tymp Deficiency in Mice is Antithrombotic and Platelets Account for the Prothrombotic Role of TYMP (0)
P.60A retrospective study of the combination of pyrimidine nucleos(t)ides in patients with thymidine kinase 2 (TK2) deficiency (2019) (0)
Novel mutations in RMND1 presenting with dystonia and seizures (P4.168) (2017) (0)
Review article MNGIE: from nuclear DNA to mitochondrial DNA (2001) (0)
The prevention of transmission of mitochondrial DNA mutations using pronuclear transfer (2013) (0)
[Table, GeneReview Scope]. (2011) (0)
Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up study (2013) (0)
Faculty Opinions recommendation of MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. (2006) (0)
Visual memory failure presages conversion to MELAS phenotype (2022) (0)
Table 3. [Selected Mitochondrial DNA Deletion Syndrome Pathogenic Variants]. (2011) (0)
Clinical and molecular genetics spectrum of Thymidine Kinase 2 deficiency (P5.067) (2015) (0)
Faculty Opinions recommendation of Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. (2006) (0)
Fhl1 W122S Knock-In Mice Manifest Late-Onset Mild Myopathy (S61.005) (2014) (0)
Aminoglycoside treatment for muscular dystrophy is scientifically rational, but is it clinically effective? (2002) (0)
M.I.4 Primary and secondary coenzyme Q10 deficiency (2007) (0)
Ataxia (Familial Cerebellar) with Muscle CoQ 10 Deficiency (2010) (0)
Correlations of brain 1 H-MRS , DTI , and post-mortem findings in patients with mitochondrial neurogastrointestinal encephalomyopathy ( MNGIE ) (2009) (0)
Table 3. [MELAS: Initial Clinical Manifestation]. (2013) (0)
M.P.3.05 CoQ10 deficiency: Clinical and genetic studies (2007) (0)
Table 1. [Summary of Molecular Genetic Testing Used in MERRF]. (2015) (0)
Therapies Approaches in Mitochondrial Diseases (2021) (0)
Phenotypical expression and molecular genetics of the nt-3243 mutation in the mitochondrial tRNA(LEU(UUR)) gene (1995) (0)
Mitochondrial ND5 mutation: neurological improvement after CoQ10 supplementation (P5.122) (2017) (0)
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy (2020) (0)
MITOCHONDRIAL DISEASES II (Oral) I.6Deoxynucleoside therapy for mitochondrial DNA depletion disorders (2018) (0)
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis (2022) (0)
Table 1. [Summary of Molecular Genetic Testing Used in MELAS]. (2013) (0)
Comprehensive cardiac magnetic resonance approach to assess myocardial involvements in asymptomatic patients with rheumatic diseases: comparison of MRI findings between rheumatic arthritis and systemic sclerosis (2010) (0)
Faculty Opinions recommendation of VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification. (2009) (0)
MITOCHONDRIAL DISEASES & METABOLIC MYOPATHIES P.320 Analysis of morbidity and mortality in untreated patients with thymidine kinase 2 deficiency (2020) (0)
Assessment of Two Anion-Exchange Resins for Direct Use in the Screening Method for Urinary (2004) (0)
TAUOPATHY IN A NOVEL HEREDITARY DISORDER CHARACTERIZED BY CONGENITAL DEAFNESS, SEIZURES, TREMORS, MYOCLONUS, AND DEMENTIA (1999) (0)
RISK FACTORS FOR EXPOSURE AND MORBIDITY ASSOCIATED WITH COVID19 IN THE MITOCHONDRIAL DISEASE POPULATION (2022) (0)
Fhl1 W122S Mutant Female Mice Develop Late-Onset Cardiomyopathy (P5.265) (2016) (0)
ROS Production, Oxidative Stress, and Cell Death Correlate with the Level of CoQ(10) in Fibroblast Models of CoQ(10) Deficiency (2010) (0)
Chapter 34 – Primary Cerebellar CoQ10 Deficiency (2016) (0)
[MNGIE--thymidine phosphorylase deficiency]. (2002) (0)
Introduction for: ‘mitochondrial diseases’ (2001) (0)
Branching Enzyme Deficiency: Expanding The Clinical Spectrum (P6.108) (2014) (0)
A NEW GENETIC CAUSE OF PRIMARY COENZYME Q10 DEFICIENCY (2009) (0)
Faculty Opinions recommendation of Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. (2009) (0)
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. (2023) (0)
G.P.3.11 Novel ETFDH mutations and normal CoQ10 level in Taiwanese patients with multiple acyl-CoA dehydrogenase deficiency (2008) (0)
Faculty Opinions recommendation of Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. (2008) (0)
Table 2. [Signs and Symptoms Seen in 62 Individuals with MERRF]. (2015) (0)
Progressive external ophthalmoplegia. (2023) (0)
Table 1. [Summary of Molecular Genetic Testing...]. (2016) (0)
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa (NARP) (2010) (0)
A sugary cocktail for McArdle disease (2005) (0)
[Table, Molecular Genetic Pathogenesis]. (2015) (0)
Faculty Opinions recommendation of Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. (2008) (0)
Two novel compound heterozygous mutations in ACAD9 in a patient with infantile-onset hypertrophic cardiomyopathy, hypotonia, and lactic acidosis. (P2.241) (2015) (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)
Table 1. [Summary of Molecular Genetic Testing Used in Mitochondrial DNA Deletion Syndromes]. (2011) (0)
[Molecular studies in Cuban patients with progressive external ophthalmoplegia]. (2000) (0)
6. Mitochondrial Myopathies (2011) (0)
Faculty Opinions recommendation of Nebulin and N-WASP cooperate to cause IGF-1-induced sarcomeric actin filament formation. (2011) (0)
Transmitochondrial mice: Pro and promises (2016) (0)
Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3 (2015) (0)
PROCEEDINGS of the XVI CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Lecce, Italy June 8-11, 2016 (2016) (0)
Serum Biomarkers of Mitochondrial Myopathy, Strength, and Recovery in Older Survivors of Acute Respiratory Failure (2019) (0)
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency (2023) (0)
Rolf Luft, MD, PhD (1914-2007) (2007) (0)
Severe Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Due to a New Molecular Defect (P05.135) (2012) (0)
New potential therapies for myasthenia gravis (2003) (0)
M.O.2 Mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene cause myopathic form of coenzyme Q10 deficiency (2007) (0)
Table 2. [Signs and Symptoms in 86 Individuals with KSS]. (2011) (0)
DIAGNOSIS AND EMERGING TREATMENTS IN INFLAMMATORY AND DEMYELINATING NEUROPATHIES (2005) (0)
Nord Guides for Physicians Mitochondrial Myopathies (mm) (2016) (0)
Mitochondrial replacement therapy (MRT) in melas carrier patients (2018) (0)
Environmental mutagen society of Japan Selected abstract of the 15th Annual Meeting of the Environmental Mutagen Society of Japan 1–3 October 1986, Tokyo (Japan)Effect of carboxylic acids on mutagenicity of N-nitroso compounds in the absence of metabolic activation (1987) (0)
Abstract 4390: Role of uridine phosphorylase 2 in fluoropyrimidine activation and host toxicity (2011) (0)
A splice-site mutation in USMG5 causes Leigh Syndrome due to lack of ATP synthesis (P2.085) (2018) (0)
M.P.3.03 Treatment of myopathic form of coenzyme Q10 deficiency caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene mutations (2007) (0)
P17.19 Deoxypyrimidine monophosphates treatment for thymidine kinase 2 deficiency (2013) (0)
XV CONGRESS OF THE ITALIAN SOCIETY OF MYOLOGY Naples, Italy - May 20-23, 2015 - Program (Summary) (2015) (0)
Table 3. [Pathogenic Variants in Mitochondrial DNA Associated with MERRF]. (2015) (0)
Mitochondrial Neurogastrointestinal Encephalomyopathy Causing Fanconi Syndrome (2022) (0)
Preparation and metabolism of 125I-sulfobromophthalein. (1983) (0)
Abstract 15120: Heart Failure Triggers Mitochondrial Dysfunction and ER Stress in Pancreatic Beta Cells (2016) (0)
Synergistic effect of deoxynucleosides and AAV gene therapy for thymidine kinase 2 deficiency (2020) (0)
Cerebellar Ataxia with CoQ10 Deficiency Due to a Novel Mutation in ADCK3 (P6.057) (2014) (0)
A Novel SUCLA2 Mutation Associated with a Complex Childhood Movements Disorder (P7.321) (2014) (0)
P.5.19 Fhl1 W122S knock-in mice manifest late-onset mild myopathy (2013) (0)
TK2 Mutation Presenting as Indolent Myopathy (P07.026) (2013) (0)
Table 4. [Clinical Features of 110 Individuals with MELAS]. (2013) (0)
Movement Disorders and Abnormal Tone (2010) (0)
Thymidine Phosphorylase Intracellular Enzyme Replacement Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) (3975) (2020) (0)
Somatic nuclear mitochondrial DNA insertions are prevalent in the human brain and accumulate over time in fibroblasts (2023) (0)
M.P.4.13 PNPLA2 mutations in two families with neutral lipid storage myopathy (2007) (0)
O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV* (2023) (0)

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What Schools Are Affiliated With Michio Hirano?

Michio Hirano is affiliated with the following schools: