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...

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Experimental neurology, 2018-09, Vol.307, p.155-163

2018

Volltextzugriff (PDF)

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

American journal of human genetics, 2016-04, Vol.98 (4), p.597-614

2016

Volltextzugriff (PDF)

POLG mutations presenting as Charcot‐Marie‐Tooth disease

Journal of the peripheral nervous system, 2019-06, Vol.24 (2), p.213-218

2019

Volltextzugriff (PDF)

COPI-regulated mitochondria-ER contact site formation maintains axonal integrity

Cell reports (Cambridge), 2023-08, Vol.42 (8), p.112883-112883, Article 112883

2023

Volltextzugriff (PDF)

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Frontiers in neurology, 2018-11, Vol.9, p.958-958

2018

Volltextzugriff (PDF)

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.280-286

2017

Volltextzugriff (PDF)

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

American journal of human genetics, 2018-03, Vol.102 (3), p.505-514

2018

Volltextzugriff (PDF)

Genetic modifiers and non-Mendelian aspects of CMT

Brain research, 2020-01, Vol.1726, p.146459-146459, Article 146459

2020

Volltextzugriff (PDF)

Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis

Organic & biomolecular chemistry, 2015-07, Vol.13 (26), p.7177-7192

2015

Volltextzugriff (PDF)

Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser

Human mutation, 2018-05, Vol.39 (5), p.635-642

2018

Volltextzugriff (PDF)

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American journal of human genetics, 2019-04, Vol.104 (4), p.767-773

2019

Volltextzugriff (PDF)

Characterization of the Nocardiopsin Biosynthetic Gene Cluster Reveals Similarities to and Differences from the Rapamycin and FK-506 Pathways

Chembiochem : a European journal of chemical biology, 2015-04, Vol.16 (6), p.990-997

2015

Volltextzugriff (PDF)

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

Neuron (Cambridge, Mass.), 2019-07, Vol.103 (1), p.52-65.e6

2019

Volltextzugriff (PDF)

TSG101 negatively regulates mitochondrial biogenesis in axons

Proceedings of the National Academy of Sciences - PNAS, 2021-05, Vol.118 (20), p.1

2021

Volltextzugriff (PDF)

A network biology approach to unraveling inherited axonopathies

Scientific reports, 2019-02, Vol.9 (1), p.1692-1692, Article 1692

2019

Volltextzugriff (PDF)

Correction: Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis

Organic & biomolecular chemistry, 2015-09, Vol.13 (35), p.9323-9323

2015

Volltextzugriff (PDF)

Prot2HG: a database of protein domains mapped to the human genome

Database : the journal of biological databases and curation, 2020, Vol.2020

2020

Volltextzugriff (PDF)

Large scale in silico characterization of repeat expansion variation in human genomes

Scientific data, 2020-09, Vol.7 (1), p.294-294, Article 294

2020

Volltextzugriff (PDF)

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Nature genetics, 2020-06, Vol.52 (6), p.640-640

2020

Volltextzugriff (PDF)

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American journal of human genetics, 2019-06, Vol.104 (6), p.1251-1251

2019

Volltextzugriff (PDF)

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Nature genetics, 2020-05, Vol.52 (5), p.473-481

2020

Volltextzugriff (PDF)

Biallelic mutations in sord are a common cause of potentially treatable genetic neuropathy

Journal of neurology, neurosurgery and psychiatry, 2022-06, Vol.93 (6), p.A14-A14

2022

Volltextzugriff (PDF)

Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesisElectronic supplementary information (ESI) available. See DOI: 10.1039/c5ob00537j

2015-06

Volltextzugriff (PDF)

Assessing non-Mendelian inheritance in inherited axonopathies

Genetics in medicine, 2020-12, Vol.22 (12), p.2114-2119

2020

Volltextzugriff (PDF)

1 – 25 von 91

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(59)
Mit Volltextzugriff
(61)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(32)
Life Sciences & Biomedicine
(28)
Humans
(23)
Genetics & Heredity
(13)
Female
(12)
Mutation
(11)
Male
(10)
Neurosciences
(8)
Neurosciences & Neurology
(8)
Adult
(7)
Genomes
(7)
Middle Aged
(7)
Aged
(6)
Animals
(6)
Audiology
(6)
Charcot-Marie-Tooth Disease - Genetics
(6)
Otorhinolaryngology
(6)
Phoniatrics
(6)
Alleles
(5)
Hereditary Spastic Paraplegia
(5)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

The human motor neuron axonal transcriptome is enriched for transcripts related to mitochondrial function and microtubule-based axonal transport

Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy

POLG mutations presenting as Charcot‐Marie‐Tooth disease

COPI-regulated mitochondria-ER contact site formation maintains axonal integrity

Perspectives on the Genomics of HSP Beyond Mendelian Inheritance

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2

Genetic modifiers and non-Mendelian aspects of CMT

Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis

Variant pathogenicity evaluation in the community‐driven Inherited Neuropathy Variant Browser

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Characterization of the Nocardiopsin Biosynthetic Gene Cluster Reveals Similarities to and Differences from the Rapamycin and FK-506 Pathways

Glutathione S-Transferase Regulates Mitochondrial Populations in Axons through Increased Glutathione Oxidation

TSG101 negatively regulates mitochondrial biogenesis in axons

A network biology approach to unraveling inherited axonopathies

Correction: Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesis

Prot2HG: a database of protein domains mapped to the human genome

Large scale in silico characterization of repeat expansion variation in human genomes

Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes

Biallelic mutations in sord are a common cause of potentially treatable genetic neuropathy

Synergism between genome sequencing, tandem mass spectrometry and bio-inspired synthesis reveals insights into nocardioazine B biogenesisElectronic supplementary information (ESI) available. See DOI: 10.1039/c5ob00537j

Assessing non-Mendelian inheritance in inherited axonopathies

Suchergebnisse filtern