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Clinical manifestations of mitochondrial DNA depletion

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

1998

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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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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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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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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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Mitochondrial myopathies

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

1985

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

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

1991

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

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

1994

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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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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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MELAS: An original case and clinical criteria for diagnosis

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

1992

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Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

Biological Mass Spectrometry, 1990-02, Vol.19 (2), p.89-93

1990

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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Enzymes of Fatty Acid β‐Oxidation in Developing Brain

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

1988

Volltextzugriff (PDF)

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

American journal of roentgenology (1976), 1990-06, Vol.154 (6), p.1269-1274

1990

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Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency

The Lancet (British edition), 1989-11, Vol.2 (8671), p.1105-1106

1989

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Mitochondrial diseases

Neurologic clinics, 1989-02, Vol.7 (1), p.123-156

1989

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Effects of ketosis on glucose flux in children and adults

American journal of physiology: endocrinology and metabolism, 1983-10, Vol.245 (4), p.E373-E378

1983

Volltextzugriff (PDF)

Mitochondrial myopathies

Journal of inherited metabolic disease, 1987-03, Vol.10 (S1), p.113-128

1987

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Epilepsy in mitochondrial encephalomyopathies

Epilepsy research. Supplement, 1991, Vol.4, p.173

1991

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Clinical manifestations of mitochondrial DNA depletion

MELAS: Clinical features, biochemistry, and molecular genetics

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

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

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

Mitochondrial myopathies

Cytochrome c oxidase deficiency in leigh syndrome

Abnormal Calcium Homeostasis and Mitochondrial Polarization in Human Encephalomyopathy

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

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

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

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

Clinical syndromes associated with ragged red fibers

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

MELAS: An original case and clinical criteria for diagnosis

Stable isotope dilution analysis of 4-hydroxybutyric acid: An accurate method for quantification in physiological fluids and the prenatal diagnosis of 4-hydroxybutyric aciduria

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

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

Enzymes of Fatty Acid β‐Oxidation in Developing Brain

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

Vigabatrin therapy in patient with succinic semialdehyde dehydrogenase deficiency

Mitochondrial diseases

Effects of ketosis on glucose flux in children and adults

Mitochondrial myopathies

Epilepsy in mitochondrial encephalomyopathies

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