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Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)

Neurology, 2009-01, Vol.72 (4), p.317

2009

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Acylcarnitine profiles in mitochondrial myopathies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S203-S203

2015

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Short- and long-term effects of endurance training in patients with mitochondrial myopathy

European journal of neurology, 2009-12, Vol.16 (12), p.1336-1339

2009

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Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1015-1024

2013

Volltextzugriff (PDF)

G.P.115 Recurrent myoglobinuria and deranged acyl-carnitines due to mutation of the COII gene of mtDNA

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.890-890

2012

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P361 Acylcarnitine profiles in patients with mitochondrial myopathy under different physiological conditions

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S185-S186

2023

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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.235-239

2009

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Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria

Neurology, 2005-09, Vol.65 (6), p.931

2005

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Deficiency of the ¿ Subunit of Succinate-Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

American journal of human genetics, 2007-08, Vol.81 (2), p.383-387

2007

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Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

Brain (London, England : 1878), 2007-03, Vol.130 (3), p.853-861

2007

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Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

Brain (London, England : 1878), 2006-12, Vol.129 (12), p.3402-3412

2006

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Multiple mtDNA deletions with features of MNGIE

Neurology, 2002-09, Vol.59 (6), p.926

2002

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Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

Journal of medical genetics, 2011-11, Vol.48 (11), p.737-740

2011

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A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum

Clinica chimica acta, 2004-09, Vol.347 (1), p.89-96

Wibrand, Flemming

2004

Volltextzugriff (PDF)

Lactate transport studied in sarcolemmal giant vesicles from rats: effect of training

American journal of physiology: endocrinology and metabolism, 1993-02, Vol.264 (2), p.E156-E160

1993

Volltextzugriff (PDF)

G.P.55 - Acylcarnitine profiles in mitochondrial myopathies

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S203-S203

2015

Volltextzugriff (PDF)

Reconstitution of the lactate carrier from rat skeletal-muscle sarcolemma

Biochemical journal, 1994-04, Vol.299 (2), p.533-537

1994

Volltextzugriff (PDF)

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

Annals of neurology, 2001-10, Vol.50 (4), p.540-543

2001

Volltextzugriff (PDF)

Opening of Glibenclamide-Sensitive K+Channels in Follicular Cells Promotes Xenopus Oocyte Maturation

Proceedings of the National Academy of Sciences - PNAS, 1992-06, Vol.89 (11), p.5133-5137

1992

Volltextzugriff (PDF)

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

European journal of human genetics : EJHG, 2001-10, Vol.9 (10), p.805-809

2001

Volltextzugriff (PDF)

Hypertrichosis in patients with SURF1 mutations

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.384-388

2005

Volltextzugriff (PDF)

Acidosis during reoxygenation has an early detrimental effect on neuronal metabolic activity

Pediatric research, 2005-04, Vol.57 (4), p.488-493

2005

Volltextzugriff (PDF)

Lactate transport in isolated mouse muscles studied with a tracer technique-kinetics, stereospecificity, pH dependency and maximal capacity

Acta physiologica Scandinavica, 1989-09, Vol.137 (1), p.33-39

1989

Volltextzugriff (PDF)

Opening of glibenclamide-sensitive K super(+) channels in follicular cells promotes Xenopus) oocyte maturation

Proceedings of the National Academy of Sciences - PNAS, 1992-01, Vol.89 (11), p.5133-5137

1992

Volltextzugriff (PDF)

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Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)

Acylcarnitine profiles in mitochondrial myopathies

Short- and long-term effects of endurance training in patients with mitochondrial myopathy

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

G.P.115 Recurrent myoglobinuria and deranged acyl-carnitines due to mutation of the COII gene of mtDNA

P361 Acylcarnitine profiles in patients with mitochondrial myopathy under different physiological conditions

Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria

Deficiency of the ¿ Subunit of Succinate-Coenzyme A Ligase Causes Fatal Infantile Lactic Acidosis with Mitochondrial DNA Depletion

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations

Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy

Multiple mtDNA deletions with features of MNGIE

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

A microplate-based enzymatic assay for the simultaneous determination of phenylalanine and tyrosine in serum

Lactate transport studied in sarcolemmal giant vesicles from rats: effect of training

G.P.55 - Acylcarnitine profiles in mitochondrial myopathies

Reconstitution of the lactate carrier from rat skeletal-muscle sarcolemma

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

Opening of Glibenclamide-Sensitive K+Channels in Follicular Cells Promotes Xenopus Oocyte Maturation

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

Hypertrichosis in patients with SURF1 mutations

Acidosis during reoxygenation has an early detrimental effect on neuronal metabolic activity

Lactate transport in isolated mouse muscles studied with a tracer technique-kinetics, stereospecificity, pH dependency and maximal capacity

Opening of glibenclamide-sensitive K super(+) channels in follicular cells promotes Xenopus) oocyte maturation

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