UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 78

Sortiert nach

The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

Molecular and Cellular Biology, 2005-04, Vol.25 (8), p.3286-3294

2005

Volltextzugriff (PDF)

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Human mutation, 2007-02, Vol.28 (2), p.137-142

2007

Volltextzugriff (PDF)

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

Developmental medicine and child neurology, 2010-02, Vol.52 (2), p.e1-e9

2010

Volltextzugriff (PDF)

Stimulation of mitochondrial activity by p43 overexpression induces human dermal fibroblast transformation

Cancer research (Chicago, Ill.), 2005-05, Vol.65 (10), p.4282-4291

2005

Volltextzugriff (PDF)

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

Molecular vision, 2007-04, Vol.13, p.511-523

2007

Volltextzugriff (PDF)

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

Molecular vision, 2006-12, Vol.12, p.1448-1460

2006

Volltextzugriff (PDF)

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.106-110

2006

Volltextzugriff (PDF)

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Annals of neurology, 2006-01, Vol.59 (1), p.121-127

2006

Volltextzugriff (PDF)

Eight previously unidentified mutations found in the OA1 ocular albinism gene

BMC medical genetics, 2006-04, Vol.7 (1), p.41-41

2006

Volltextzugriff (PDF)

Leigh's disease due to a new mutation in the PDHX gene

Annals of neurology, 2006-04, Vol.59 (4), p.709-714

2006

Volltextzugriff (PDF)

Impairment of the mitochondrial respiratory chain activity in diethylnitrosamine-induced rat hepatomas : possible involvement of oxygen free radicals

Cancer research (Chicago, Ill.), 1995-07, Vol.55 (14), p.3028-3035

1995

Volltextzugriff (PDF)

Higher maternal than paternal inheritance of diabetes in GK rats

Diabetes (New York, N.Y.), 1994-02, Vol.43 (2), p.220

1994

Volltextzugriff (PDF)

Homozygous Deletion in the Coding Sequence of the c-mer Gene in RCS Rats Unravels General Mechanisms of Physiological Cell Adhesion and Apoptosis

Neurobiology of disease, 2000-12, Vol.7 (6), p.586-599

2000

Volltextzugriff (PDF)

Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration

Neurobiology of disease, 2003-11, Vol.14 (2), p.166-180

2003

Volltextzugriff (PDF)

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

Annals of neurology, 2003-02, Vol.53 (2), p.273-277

2003

Volltextzugriff (PDF)

Overproduction of Cu/Zn-Superoxide Dismutase or Bcl-2 Prevents the Brain Mitochondrial Respiratory Dysfunction Induced by Glutathione Depletion

Experimental neurology, 1999-08, Vol.158 (2), p.428-436

1999

Volltextzugriff (PDF)

A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Human mutation, 2007-02, Vol.28 (2), p.137-142

2007

Volltextzugriff (PDF)

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

Molecular genetics and metabolism, 2002-08, Vol.76 (4), p.344-347

2002

Volltextzugriff (PDF)

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

Human genetics, 2000-02, Vol.106 (2), p.236-243

2000

Volltextzugriff (PDF)

Splicing Error in E1α Pyruvate Dehydrogenase mRNA Caused by Novel Intronic Mutation Responsible for Lactic Acidosis and Mental Retardation

The Journal of biological chemistry, 2003-04, Vol.278 (14), p.11768-11772

2003

Volltextzugriff (PDF)

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency

Human mutation, 2001-05, Vol.17 (5), p.374-381

2001

Volltextzugriff (PDF)

Expression of human cytochrome c, oxidase subunits during fetal development

European journal of biochemistry, 1993-11, Vol.217 (3), p.1099-1107

1993

Volltextzugriff (PDF)

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

Journal of the neurological sciences, 1998, Vol.156 (1), p.41-46

1998

Volltextzugriff (PDF)

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation

The Journal of biological chemistry, 2003-07, Vol.278 (27), p.24314-24323

2003

Volltextzugriff (PDF)

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency

Pediatric research, 2003-05, Vol.53 (5), p.793-799

2003

Volltextzugriff (PDF)

1 – 25 von 78

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(75)
Mit Volltextzugriff
(74)

Publikationsform

Artikel
(77)
Bücher
(1)

Sprache

Erscheinungsjahr

n.n

Thema

Humans
(47)
Science & Technology
(47)
Life Sciences & Biomedicine
(44)
Biological And Medical Sciences
(26)
Female
(26)
Male
(24)
Medical Sciences
(22)
Molecular Sequence Data
(19)
Base Sequence
(18)
Neurology
(15)
Mutation
(14)
Neurosciences & Neurology
(13)
Pyruvate Dehydrogenase Complex - Genetics
(13)
Biochemistry & Molecular Biology
(12)
Infant
(11)
Neurosciences
(11)
Clinical Neurology
(10)
Life Sciences
(10)
Adult
(9)
Diseases Of Striated Muscles. Neuromuscular Diseases
(9)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

The SR Protein SC35 Is Responsible for Aberrant Splicing of the E1α Pyruvate Dehydrogenase mRNA in a Case of Mental Retardation with Lactic Acidosis

A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

Stimulation of mitochondrial activity by p43 overexpression induces human dermal fibroblast transformation

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Leigh's disease due to a new mutation in the PDHX gene

Impairment of the mitochondrial respiratory chain activity in diethylnitrosamine-induced rat hepatomas : possible involvement of oxygen free radicals

Higher maternal than paternal inheritance of diabetes in GK rats

Homozygous Deletion in the Coding Sequence of the c-mer Gene in RCS Rats Unravels General Mechanisms of Physiological Cell Adhesion and Apoptosis

Identification of novel genes and altered signaling pathways in the retinal pigment epithelium during the Royal College of Surgeons rat retinal degeneration

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the pdx1 gene

Overproduction of Cu/Zn-Superoxide Dismutase or Bcl-2 Prevents the Brain Mitochondrial Respiratory Dysfunction Induced by Glutathione Depletion

A large genomic deletion in thePDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element

Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

Splicing Error in E1α Pyruvate Dehydrogenase mRNA Caused by Novel Intronic Mutation Responsible for Lactic Acidosis and Mental Retardation

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency

Expression of human cytochrome c, oxidase subunits during fetal development

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

Proteomic Consequences of a Human Mitochondrial tRNA Mutation beyond the Frame of Mitochondrial Translation

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency

Suchergebnisse filtern