UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 173

Sortiert nach

Acute loss of iron–sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells

The Journal of biological chemistry, 2018-05, Vol.293 (21), p.8297-8311

2018

Link zum Volltext

Verfügbarkeit prüfen

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

American journal of human genetics, 2015-08, Vol.97 (2), p.319-328

2015

Link zum Volltext

Verfügbarkeit prüfen

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Neurology, 2018-09, Vol.91 (11), p.e1077

2018

Link zum Volltext

Verfügbarkeit prüfen

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

PloS one, 2014-12, Vol.9 (12), p.e114462

2014

Link zum Volltext

Verfügbarkeit prüfen

Metabolic and Mitochondrial Myopathies

Neurologic clinics, 2014-08, Vol.32 (3), p.777-799

2014

Link zum Volltext

Verfügbarkeit prüfen

Aerobic conditioning: An effective therapy in McArdle's disease

Annals of neurology, 2006-06, Vol.59 (6), p.922-928

2006

Link zum Volltext

Verfügbarkeit prüfen

Energy deficit in Huntington disease: why it matters

The Journal of clinical investigation, 2011-02, Vol.121 (2), p.493-499

2011

Link zum Volltext

Verfügbarkeit prüfen

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

Blood, 2010-01, Vol.115 (4), p.860-869

2010

Link zum Volltext

Verfügbarkeit prüfen

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.187-11, Article 187

2020

Link zum Volltext

Verfügbarkeit prüfen

Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency

The Journal of biological chemistry, 2003-10, Vol.278 (44), p.43081-43088

2003

Link zum Volltext

Verfügbarkeit prüfen

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity

The Journal of clinical investigation, 2021-01, Vol.131 (2), p.1-16

2021

Link zum Volltext

Verfügbarkeit prüfen

No effect of triheptanoin on exercise performance in McArdle disease

Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.1949-1960

2019

Link zum Volltext

Verfügbarkeit prüfen

Exercise in muscle glycogen storage diseases

Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.551-563

2015

Link zum Volltext

Verfügbarkeit prüfen

Glycogen storage disease type III: the phenotype branches out

Neurology, 2015-04, Vol.84 (17), p.1726

Haller, Ronald G

2015

Link zum Volltext

Verfügbarkeit prüfen

Reproducibility and absolute quantification of muscle glycogen in patients with glycogen storage disease by 13C NMR spectroscopy at 7 Tesla

PloS one, 2014, Vol.9 (10), p.e108706

2014

Link zum Volltext

Verfügbarkeit prüfen

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy

Proceedings of the National Academy of Sciences - PNAS, 2017-08, Vol.114 (31), p.8402-8407

2017

Link zum Volltext

Verfügbarkeit prüfen

Isolated Cytochrome c Oxidase Deficiency in G93A SOD1 Mice Overexpressing CCS Protein

The Journal of biological chemistry, 2008-05, Vol.283 (18), p.12267-12275

2008

Link zum Volltext

Verfügbarkeit prüfen

Hyperpolarized 13C MR Spectroscopy Depicts in Vivo Effect of Exercise on Pyruvate Metabolism in Human Skeletal Muscle

Radiology, 2021-09, Vol.300 (3), p.626-632

2021

Link zum Volltext

Verfügbarkeit prüfen

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

Neurology, 2020-02, Vol.94 (7), p.e687

2020

Link zum Volltext

Verfügbarkeit prüfen

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

American journal of human genetics, 2009-08, Vol.85 (2), p.290-295

2009

Link zum Volltext

Verfügbarkeit prüfen

Progressive exercise training improves maximal aerobic capacity in individuals with well-healed burn injuries

American journal of physiology. Regulatory, integrative and comparative physiology, 2019-10, Vol.317 (4), p.R563-R570

2019

Link zum Volltext

Verfügbarkeit prüfen

Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery

Brain (London, England : 1878), 2012-01, Vol.135 (1), p.53-61

2012

Link zum Volltext

Verfügbarkeit prüfen

A nonischemic forearm exercise test for McArdle disease

Annals of neurology, 2002-08, Vol.52 (2), p.153-159

2002

Link zum Volltext

Verfügbarkeit prüfen

The Effect of Oral Sucrose on Exercise Tolerance in Patients with McArdle's Disease

The New England journal of medicine, 2003-12, Vol.349 (26), p.2503-2509

2003

Link zum Volltext

Verfügbarkeit prüfen

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

American journal of human genetics, 2008-03, Vol.82 (3), p.652-660

2008

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 173

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(157)
Mit Volltextzugriff
(144)

Publikationsform

Sprache

Englisch
(172)
Japanisch
(14)

Erscheinungsjahr

n.n

Thema

Science & Technology
(114)
Life Sciences & Biomedicine
(110)
Humans
(109)
Male
(73)
Female
(64)
Adult
(62)
Biological And Medical Sciences
(57)
Medical Sciences
(53)
Neurosciences & Neurology
(47)
Clinical Neurology
(44)
Middle Aged
(37)
Neurology
(29)
Neurosciences
(29)
Exercise
(25)
Muscle, Skeletal - Metabolism
(25)
Exercise - Physiology
(22)
Space Life Sciences
(21)
Animals
(20)
Mutation
(18)
Glycogen Storage Disease Type V - Physiopathology
(15)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Acute loss of iron–sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Level of residual enzyme activity modulates the phenotype in phosphoglycerate kinase deficiency

Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle

Metabolic and Mitochondrial Myopathies

Aerobic conditioning: An effective therapy in McArdle's disease

Energy deficit in Huntington disease: why it matters

Posttranslational stability of the heme biosynthetic enzyme ferrochelatase is dependent on iron availability and intact iron-sulfur cluster assembly machinery

Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)

Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity

No effect of triheptanoin on exercise performance in McArdle disease

Exercise in muscle glycogen storage diseases

Glycogen storage disease type III: the phenotype branches out

Reproducibility and absolute quantification of muscle glycogen in patients with glycogen storage disease by 13C NMR spectroscopy at 7 Tesla

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy

Isolated Cytochrome c Oxidase Deficiency in G93A SOD1 Mice Overexpressing CCS Protein

Hyperpolarized 13C MR Spectroscopy Depicts in Vivo Effect of Exercise on Pyruvate Metabolism in Human Skeletal Muscle

Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial

A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions

Progressive exercise training improves maximal aerobic capacity in individuals with well-healed burn injuries

Increased capillaries in mitochondrial myopathy: implications for the regulation of oxygen delivery

A nonischemic forearm exercise test for McArdle disease

The Effect of Oral Sucrose on Exercise Tolerance in Patients with McArdle's Disease

Splice Mutation in the Iron-Sulfur Cluster Scaffold Protein ISCU Causes Myopathy with Exercise Intolerance

Suchergebnisse filtern