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The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants

Human molecular genetics, 2004-04, Vol.13 (8), p.869-879

2004

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Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

Annals of neurology, 1994-03, Vol.35 (3), p.326-330

1994

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Bridging the research-management gap: landscape science in practice on public lands in the western United States

Landscape ecology, 2020-03, Vol.35 (3), p.545-560

2020

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Activation of the ATP-ubiquitin-proteasome pathway in skeletal muscle of cachectic rats bearing a hepatoma

American journal of physiology: endocrinology and metabolism, 1995-05, Vol.268 (5), p.E996-E1006

1995

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MELAS: Clinical features, biochemistry, and molecular genetics

Annals of neurology, 1992-04, Vol.31 (4), p.391-398

1992

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Clinical manifestations of mitochondrial DNA depletion

Neurology, 1998-06, Vol.50 (6), p.1783

1998

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The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Annals of neurology, 1993-12, Vol.34 (6), p.827-834

1993

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

The New England journal of medicine, 1989-05, Vol.320 (20), p.1293

1989

Volltextzugriff (PDF)

Mitochondrial myopathies

Annals of neurology, 1985-06, Vol.17 (6), p.521-538

1985

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MELAS: An original case and clinical criteria for diagnosis

Neuromuscular disorders : NMD, 1992, Vol.2 (2), p.125-135

1992

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Cytochrome c oxidase deficiency in leigh syndrome

Annals of neurology, 1987-10, Vol.22 (4), p.498-506

1987

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Abnormal Calcium Homeostasis and Mitochondrial Polarization in Human Encephalomyopathy

Proceedings of the National Academy of Sciences - PNAS, 1995-01, Vol.92 (3), p.729-733

1995

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Effect of L-carnitine treatment for valproate-induced hepatotoxicity

Neurology, 2002-02, Vol.58 (3), p.507

DeVivo, Darryl C

2002

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Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations

Journal of inherited metabolic disease, 1998-12, Vol.21 (8), p.829-836

1998

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Clinical features and genetics of myoclonic epilepsy with ragged red fibers

Advances in neurology, 2002, Vol.89, p.217

2002

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Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

Journal of inherited metabolic disease, 1996-01, Vol.19 (1), p.43-50

1996

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Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus

Neurology, 1994-06, Vol.44 (6), p.1083

1994

Volltextzugriff (PDF)

Cytochrome c oxidase deficiency

Pediatric research, 1990-11, Vol.28 (5), p.536-541

1990

Volltextzugriff (PDF)

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

Neurology, 1991-04, Vol.41 (4), p.491

1991

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MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect

American journal of neuroradiology : AJNR, 1990-03, Vol.11 (2), p.379-384

1990

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Mitochondrial Morphology and Intracellular Calcium Homeostasis in Cytochrome Oxidase-Deficient Human Fibroblasts

Neurobiology of disease, 1997, Vol.3 (4), p.287-298

1997

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Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

Annals of neurology, 1983-08, Vol.14 (2), p.226-234

1983

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Enzymes of Fatty Acid β‐Oxidation in Developing Brain

Journal of neurochemistry, 1988-08, Vol.51 (2), p.339-344

1988

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Clinical syndromes associated with ragged red fibers

Revue neurologique, 1991, Vol.147 (6-7), p.467-473

1991

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Middle cerebral artery blood velocity and cerebral blood flow in sickle cell disease

Stroke (1970), 1991, Vol.22 (1), p.27-30

1991

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The mtDNA T8993G (NARP) mutation results in an impairment of oxidative phosphorylation that can be improved by antioxidants

Andersen's syndrome: Potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

Bridging the research-management gap: landscape science in practice on public lands in the western United States

Activation of the ATP-ubiquitin-proteasome pathway in skeletal muscle of cachectic rats bearing a hepatoma

MELAS: Clinical features, biochemistry, and molecular genetics

Clinical manifestations of mitochondrial DNA depletion

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

Mitochondrial myopathies

MELAS: An original case and clinical criteria for diagnosis

Cytochrome c oxidase deficiency in leigh syndrome

Abnormal Calcium Homeostasis and Mitochondrial Polarization in Human Encephalomyopathy

Effect of L-carnitine treatment for valproate-induced hepatotoxicity

Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations

Clinical features and genetics of myoclonic epilepsy with ragged red fibers

Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome

Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus

Cytochrome c oxidase deficiency

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

MR findings in patients with subacute necrotizing encephalomyelopathy (Leigh syndrome): correlation with biochemical defect

Mitochondrial Morphology and Intracellular Calcium Homeostasis in Cytochrome Oxidase-Deficient Human Fibroblasts

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

Enzymes of Fatty Acid β‐Oxidation in Developing Brain

Clinical syndromes associated with ragged red fibers

Middle cerebral artery blood velocity and cerebral blood flow in sickle cell disease

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