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Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006173
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- Article
Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review.
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- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 207, doi. 10.1515/jpem.1999.12.2.207
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- Article
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.
- Published in:
- FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728
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- Article
Mitochondrial dysfunction in mut methylmalonic acidemia.
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- FASEB Journal, 2009, v. 23, n. 4, p. 1252, doi. 10.1096/fj.08-121848
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- Article
Polyglucosan neurotoxicity caused by glycogen branching enzyme deficiency can be reversed by inhibition of glycogen synthase.
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- Journal of Neurochemistry, 2013, v. 127, n. 1, p. 101, doi. 10.1111/jnc.12277
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- Article
Mitochondrial Encephalomyopathies.
- Published in:
- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 217, doi. 10.1196/annals.1293.022
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- Article
Mitochondrial Encephalomyopathies.
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- Annals of the New York Academy of Sciences, 2004, v. 1011, n. 1, p. 232, doi. 10.1196/annals.1293.023
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- Publication type:
- Article
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy.
- Published in:
- 2016
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- Publication type:
- journal article
Human mitochondrial DNA: roles of inherited and somatic mutations.
- Published in:
- Nature Reviews Genetics, 2012, v. 13, n. 12, p. 878, doi. 10.1038/nrg3275
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- Article
THE GENETICS AND PATHOLOGY OF OXIDATIVE PHOSPHORYLATION.
- Published in:
- Nature Reviews Genetics, 2001, v. 2, n. 5, p. 342, doi. 10.1038/35072063
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- Article
Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging.
- Published in:
- 2014
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- Publication type:
- journal article
Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder.
- Published in:
- JAMA Psychiatry, 2014, v. 71, n. 6, p. 665, doi. 10.1001/jamapsychiatry.2014.179
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- Article
Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4430, doi. 10.1093/hmg/ddr371
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- Article
A functionally dominant mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
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- Publication type:
- Article
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1091
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- Publication type:
- Article
Cytochrome c Oxidase Deficiency in Muscle With Dicarboxylic Aciduria and Renal Tubular Acidosis.
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- Journal of Child Neurology, 1990, v. 5, n. 2, p. 147, doi. 10.1177/088307389000500216
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- Publication type:
- Article
Metabolic Myoglobinuria.
- Published in:
- Current Neurology & Neuroscience Reports, 2015, v. 15, n. 10, p. 1, doi. 10.1007/s11910-015-0590-9
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- Publication type:
- Article
A Diagnostic Algorithm for Metabolic Myopathies.
- Published in:
- Current Neurology & Neuroscience Reports, 2010, v. 10, n. 2, p. 118, doi. 10.1007/s11910-010-0096-4
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- Article
A new muscle glycogen storage disease associated with glycogenin-1 deficiency.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 6, p. 891, doi. 10.1002/ana.24284
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- Publication type:
- Article
Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.
- Published in:
- Annals of Neurology, 2013, v. 74, n. 6, p. 914, doi. 10.1002/ana.23963
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- Publication type:
- Article
A Brief History of Mitochondrial Pathologies.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 22, p. 5643, doi. 10.3390/ijms20225643
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- Publication type:
- Article
Hepato-cerebral syndrome: genetic and pathological studies in an infant with a dGK mutation.
- Published in:
- Acta Neuropathologica, 2004, v. 108, n. 2, p. 168, doi. 10.1007/s00401-004-0872-9
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- Publication type:
- Article
The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.
- Published in:
- Acta Neuropathologica, 2003, v. 105, n. 1, p. 69, doi. 10.1007/s00401-002-0604-y
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- Publication type:
- Article
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy.
- Published in:
- Nature, 2011, v. 478, n. 7367, p. 127, doi. 10.1038/nature10456
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- Article
A novel POLG gene mutation in a patient with SANDO.
- Published in:
- Journal of Experimental & Integrative Medicine, 2012, v. 2, n. 2, p. 181, doi. 10.5455/jeim.200312.cr.001
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- Publication type:
- Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
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- Publication type:
- Article
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
- Published in:
- 1998
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- Publication type:
- journal article
Biochemical and genetic studies in a family with mitochondrial myopathy.
- Published in:
- 1997
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- Publication type:
- journal article
Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred.
- Published in:
- 1996
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- Publication type:
- journal article
Letter to the editor.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. 4, p. 478, doi. 10.1002/mus.880180420
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- Publication type:
- Article
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S50, doi. 10.1002/mus.880181412
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- Article
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S45, doi. 10.1002/mus.880181411
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- Article
Biochemistry and molecular genetics of human glycogenoses: An overview.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S10, doi. 10.1002/mus.880181405
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- Article
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S23, doi. 10.1002/mus.880181407
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- Publication type:
- Article
Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF.
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- Muscle & Nerve, 1994, v. 17, n. 8, p. 943, doi. 10.1002/mus.880170815
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- Article
Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse.
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- Muscle & Nerve, 1994, v. 17, n. 3, p. 305, doi. 10.1002/mus.880170308
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- Article
Adult acid maltase deficiency.
- Published in:
- Muscle & Nerve, 1993, v. 16, n. 6, p. 672, doi. 10.1002/mus.880160614
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- Publication type:
- Article
Polyglucosan body disease.
- Published in:
- Muscle & Nerve, 1991, v. 14, n. 2, p. 102, doi. 10.1002/mus.880140203
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- Article
Recurrent myoglobinuria and HIV seropositivity: Incidental or pathogenic association?
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- Muscle & Nerve, 1989, v. 12, n. 10, p. 842, doi. 10.1002/mus.880121009
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- Article
High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy.
- Published in:
- Muscle & Nerve, 1987, v. 10, n. 4, p. 346, doi. 10.1002/mus.880100411
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- Publication type:
- Article
Targeting of lysosomal enzymes: N-Acetylglucosamine-1-Phosphotransferase during muscle development.
- Published in:
- Muscle & Nerve, 1986, v. 9, n. 3, p. 261, doi. 10.1002/mus.880090311
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- Publication type:
- Article
Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency.
- Published in:
- Muscle & Nerve, 1985, v. 8, n. 8, p. 672, doi. 10.1002/mus.880080809
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- Publication type:
- Article
Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme.
- Published in:
- Muscle & Nerve, 1984, v. 7, n. 7, p. 542, doi. 10.1002/mus.880070705
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- Article
Dr. Horia Radu.
- Published in:
- Muscle & Nerve, 1979, v. 2, n. 4, p. 308, doi. 10.1002/mus.880020413
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- Publication type:
- Article
Adult-onset acid maltase deficiency: A postmortem study.
- Published in:
- Muscle & Nerve, 1978, v. 1, n. 1, p. 27, doi. 10.1002/mus.880010105
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- Publication type:
- Article
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: Neuropathology, biochemistry, and molecular genetics.
- Published in:
- Annals of Neurology, 1989, v. 26, n. 1, p. 20, doi. 10.1002/ana.410260104
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- Publication type:
- Article
McArdle's disease: Biochemical and molecular genetic studies.
- Published in:
- Annals of Neurology, 1988, v. 24, n. 6, p. 774, doi. 10.1002/ana.410240612
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- Publication type:
- Article
Cytochrome c oxidase deficiency in leigh syndrome.
- Published in:
- Annals of Neurology, 1987, v. 22, n. 4, p. 498, doi. 10.1002/ana.410220409
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- Article
Reply.
- Published in:
- Annals of Neurology, 1986, v. 20, n. 4, p. 546, doi. 10.1002/ana.410200424
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- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 1985, v. 18, n. 5, p. 626, doi. 10.1002/ana.410180526
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- Publication type:
- Article