UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

ACTN3/ACE genotypes and mitochondrial genome in professional soccer players performance

Journal of biological regulators and homeostatic agents, 2017-01, Vol.31 (1), p.207-213

2017

Volltextzugriff (PDF)

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

Human molecular genetics, 2001-03, Vol.10 (5), p.529-535

2001

Volltextzugriff (PDF)

Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA

European journal of neurology, 2012-07, Vol.19 (7), p.e63-e64

2012

Volltextzugriff (PDF)

High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON)

Investigative ophthalmology & visual science, 2017-04, Vol.58 (4), p.2193-2197

2017

Volltextzugriff (PDF)

The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade

Journal of bioenergetics and biomembranes, 2002-02, Vol.34 (1), p.1-10

2002

Volltextzugriff (PDF)

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

Neurology, 2003-10, Vol.61 (7), p.1017-1018

2003

Volltextzugriff (PDF)

Complex I and the cAMP cascade in human physiopathology

Bioscience reports, 2002-02, Vol.22 (1), p.3-16

2002

Volltextzugriff (PDF)

Prefrontal-Hippocampal Coupling During Memory Processing Is Modulated by COMT Val158Met Genotype

Biological psychiatry (1969), 2006-12, Vol.60 (11), p.1250-1258

2006

Volltextzugriff (PDF)

Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation

Clinical genetics, 2004-01, Vol.65 (1), p.64-65

2004

Volltextzugriff (PDF)

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

Journal of inherited metabolic disease, 2003-01, Vol.26 (8), p.813-815

2003

Volltextzugriff (PDF)

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report

BMC medical genetics, 2018-07, Vol.19 (1), p.129-129, Article 129

2018

Volltextzugriff (PDF)

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

International medical case reports journal, 2020-02, Vol.13, p.41-45

2020

Volltextzugriff (PDF)

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

Human molecular genetics, 1994-03, Vol.3 (3), p.449-454

1994

Volltextzugriff (PDF)

Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex

The Journal of biological chemistry, 2003-11, Vol.278 (45), p.44161-44167

2003

Volltextzugriff (PDF)

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene

Gene, 2002-03, Vol.286 (1), p.149-154

2002

Volltextzugriff (PDF)

Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain

Genomics (San Diego, Calif.), 1998-12, Vol.54 (3), p.494-504

1998

Volltextzugriff (PDF)

Mitochondrial disease mimicking polymyositis: a case report

Clinical rheumatology, 2002-09, Vol.21 (5), p.411-414

2002

Volltextzugriff (PDF)

Lipid Composition in Synaptic and Nonsynaptic Mitochondria from Rat Brains and Effect of Aging

Journal of neurochemistry, 1992-08, Vol.59 (2), p.487-491

1992

Volltextzugriff (PDF)

Mitochondrial DNA transcription and translation in aged rat. Effect of acetyl-L-carnitine

Annals of the New York Academy of Sciences, 1994-06, Vol.717 (1), p.150-160

1994

Volltextzugriff (PDF)

Reduced synthesis of mtRNA in isolated mitochondria of senescent rat brain

Biochemical and biophysical research communications, 1991-04, Vol.176 (2), p.645-653

1991

Volltextzugriff (PDF)

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Biochemical and biophysical research communications, 2007-03, Vol.355 (1), p.181-187

2007

Volltextzugriff (PDF)

Age-Dependent Structural Variations in Rat Brain Mitochondrial DNA

Annals of the New York Academy of Sciences, 1992-12, Vol.673 (1), p.194-199

1992

Volltextzugriff (PDF)

Acetyl-L-carnitine increases cytochrome oxidase subunit I mRNA content in hypothyroid rat liver

FEBS letters, 1990-12, Vol.277 (1), p.191-193

1990

Volltextzugriff (PDF)

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

Nature genetics, 1992-08, Vol.1 (5), p.359-367

1992

Volltextzugriff (PDF)

Decrease of D-loop frequency in heart and cerebral hemispheres mitochondrial DNA of aged rat

Molecular and chemical neuropathology, 1995-02, Vol.24 (2-3), p.193-202

1995

Volltextzugriff (PDF)

1 – 25 von 49

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(46)
Mit Volltextzugriff
(41)

Publikationsform

Sprache

Englisch
(49)

Erscheinungsjahr

n.n

Thema

Science & Technology
(35)
Life Sciences & Biomedicine
(31)
Humans
(26)
Male
(18)
Mutation
(15)
Biological And Medical Sciences
(13)
Dna, Mitochondrial - Genetics
(13)
Animals
(11)
Biochemistry & Molecular Biology
(11)
Female
(11)
Genetics & Heredity
(9)
Fundamental And Applied Biological Sciences. Psychology
(8)
Mitochondria - Metabolism
(8)
Mitochondrial Dna
(8)
Rats
(8)
Adult
(7)
Biophysics
(7)
Molecular Sequence Data
(7)
Neurosciences & Neurology
(7)
Base Sequence
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

ACTN3/ACE genotypes and mitochondrial genome in professional soccer players performance

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA

High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON)

The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit

Complex I and the cAMP cascade in human physiopathology

Prefrontal-Hippocampal Coupling During Memory Processing Is Modulated by COMT Val158Met Genotype

Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report

CMT2A Harboring Mitofusin 2 Mutation with Optic Nerve Atrophy and Normal Visual Acuity

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene

Identification and Characterization of Human cDNAs Specific to BCS1, PET112, SCO1, COX15, and COX11, Five Genes Involved in the Formation and Function of the Mitochondrial Respiratory Chain

Mitochondrial disease mimicking polymyositis: a case report

Lipid Composition in Synaptic and Nonsynaptic Mitochondria from Rat Brains and Effect of Aging

Mitochondrial DNA transcription and translation in aged rat. Effect of acetyl-L-carnitine

Reduced synthesis of mtRNA in isolated mitochondria of senescent rat brain

The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy

Age-Dependent Structural Variations in Rat Brain Mitochondrial DNA

Acetyl-L-carnitine increases cytochrome oxidase subunit I mRNA content in hypothyroid rat liver

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

Decrease of D-loop frequency in heart and cerebral hemispheres mitochondrial DNA of aged rat

Suchergebnisse filtern