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...

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition

Pharmaceuticals (Basel, Switzerland), 2019-02, Vol.12 (1), p.27

2019

Volltextzugriff (PDF)

Classification and molecular pathogenesis of NBIA syndromes

European journal of paediatric neurology, 2018-03, Vol.22 (2), p.272-284

2018

Volltextzugriff (PDF)

Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives

International journal of molecular sciences, 2023-01, Vol.24 (3), p.1969

2023

Volltextzugriff (PDF)

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

International Journal of Cell Biology, 2014, Vol.2014 (2014), p.240-250

2014

Volltextzugriff (PDF)

Genetic diagnosis of Mendelian disorders via RNA sequencing

Nature communications, 2017-06, Vol.8 (1), p.15824-11, Article 15824

2017

Volltextzugriff (PDF)

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

International journal of molecular sciences, 2023-03, Vol.24 (6), p.5951

2023

Volltextzugriff (PDF)

Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype

Cell death & disease, 2022-02, Vol.13 (2), p.185-12, Article 185

2022

Volltextzugriff (PDF)

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

Cell reports (Cambridge), 2018-02, Vol.22 (8), p.2066-2079

2018

Volltextzugriff (PDF)

Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

Pharmaceutics, 2020-11, Vol.12 (11), p.1083

2020

Volltextzugriff (PDF)

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Biochimica et biophysica acta, 2016-08, Vol.1857 (8), p.1326-1335

2016

Volltextzugriff (PDF)

Protocol for evaluating mitochondrial respiration in iPSC-derived neurons by the Seahorse XF analyzer

STAR protocols, 2024-09, Vol.5 (3), p.103127, Article 103127

2024

Volltextzugriff (PDF)

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

Neurobiology of disease, 2015-09, Vol.81, p.144-153

2015

Volltextzugriff (PDF)

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

Nature medicine, 2009-02, Vol.15 (2), p.200-205

2009

Volltextzugriff (PDF)

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

Cell reports (Cambridge), 2017-02, Vol.18 (7), p.1727-1738

2017

Volltextzugriff (PDF)

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

EMBO molecular medicine, 2015-10, Vol.7 (10), p.1257-1266

2015

Volltextzugriff (PDF)

Transcriptional requirements of the distal heavy-strand promoter of mtDNA

Proceedings of the National Academy of Sciences - PNAS, 2012-04, Vol.109 (17), p.6508-6512

2012

Volltextzugriff (PDF)

Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis

Nature chemical biology, 2015-10, Vol.11 (10), p.784-792

2015

Volltextzugriff (PDF)

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

Pharmaceutics, 2022-06, Vol.14 (6), p.1287

2022

Volltextzugriff (PDF)

CoA synthase plays a critical role in neurodevelopment and neurodegeneration

Frontiers in cellular neuroscience, 2024-09, Vol.18, p.1458475

2024

Volltextzugriff (PDF)

Fetal and obstetrics manifestations of mitochondrial diseases

Journal of translational medicine, 2024-09, Vol.22 (1), p.853-30, Article 853

2024

Volltextzugriff (PDF)

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100641, Article 100641

2020

Volltextzugriff (PDF)

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

International journal of molecular sciences, 2020-05, Vol.21 (10), p.3664

2020

Volltextzugriff (PDF)

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

EMBO molecular medicine, 2016-10, Vol.8 (10), p.1197-1211

2016

Volltextzugriff (PDF)

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12

Stem cell research, 2023-10, Vol.72, p.103197-103197, Article 103197

2023

Volltextzugriff (PDF)

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation

Frontiers in cellular neuroscience, 2022-06, Vol.16, p.878103-878103

2022

Volltextzugriff (PDF)

1 – 25 von 160

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(155)
Mit Volltextzugriff
(148)

Publikationsform

Sprache

Englisch
(159)
Französisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

MEDLINE
(110)
Ingenta
(101)
EZB Electronic Journals Library
(100)
Journals@Ovid
(55)
Publisher website
(43)
Elsevier ScienceDirect Journals
(42)
IngentaConnect Journals
(39)
Wiley Online Library
(26)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(23)
Nature
(17)
Oxford journals
(16)
Oxford Journals 2020 Medicine
(16)
Wiley Online Library
(16)
Springer journals
(15)
SpringerLINK Contemporary (Konsortium Baden-Württemberg)
(11)
Nexis Uni
(10)
BMJ
(4)
BMJ Journals Archiv - DFG Nationallizenzen
(3)
Ebook Central Perpetual and DDA
(2)
eBooks on EBSCOhost
(2)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition

Classification and molecular pathogenesis of NBIA syndromes

Mitochondrial Transplantation in Mitochondrial Medicine: Current Challenges and Future Perspectives

The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes

Genetic diagnosis of Mendelian disorders via RNA sequencing

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

Massive iron accumulation in PKAN-derived neurons and astrocytes: light on the human pathological phenotype

Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

Therapeutic Approaches to Treat Mitochondrial Diseases: “One-Size-Fits-All” and “Precision Medicine” Strategies

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Protocol for evaluating mitochondrial respiration in iPSC-derived neurons by the Seahorse XF analyzer

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

Transcriptional requirements of the distal heavy-strand promoter of mtDNA

Extracellular 4'-phosphopantetheine is a source for intracellular coenzyme A synthesis

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective

CoA synthase plays a critical role in neurodevelopment and neurodegeneration

Fetal and obstetrics manifestations of mitochondrial diseases

Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutation

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

Generation of two human iPSC lines, HMGUi004-A and FINCBi004-A, from fibroblasts of MPAN patients carrying pathogenic recessive mutations in the gene C19orf12

PKAN hiPS-Derived Astrocytes Show Impairment of Endosomal Trafficking: A Potential Mechanism Underlying Iron Accumulation

Suchergebnisse filtern