UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 94

Sortiert nach

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations

Neuron (Cambridge, Mass.), 2014-02, Vol.81 (3), p.536-543

2014

Volltextzugriff (PDF)

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

Acta neuropathologica, 2011-12, Vol.122 (6), p.691-702

2011

Volltextzugriff (PDF)

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

Brain (London, England : 1878), 2019-12, Vol.142 (12), p.3753-3770

2019

Volltextzugriff (PDF)

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

Nature neuroscience, 2011-04, Vol.14 (4), p.452-458

2011

Volltextzugriff (PDF)

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

Glia, 2020-05, Vol.68 (5), p.1046-1064

2020

Volltextzugriff (PDF)

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2016-05, Vol.139 (Pt 5), p.1417-1432

2016

Volltextzugriff (PDF)

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

Brain (London, England : 1878), 2017-06, Vol.140 (6), p.1611-1618

2017

Volltextzugriff (PDF)

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

Acta neuropathologica, 2013-02, Vol.125 (2), p.273-288

2013

Volltextzugriff (PDF)

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

Acta neuropathologica communications, 2019-07, Vol.7 (1), p.115-7, Article 115

2019

Volltextzugriff (PDF)

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

European journal of human genetics : EJHG, 2013-01, Vol.21 (1), p.102-108

2013

Volltextzugriff (PDF)

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

PloS one, 2013-10, Vol.8 (10), p.e76055-e76055

2013

Volltextzugriff (PDF)

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

Neuron (Cambridge, Mass.), 2017-04, Vol.94 (2), p.322-336.e5

2017

Volltextzugriff (PDF)

ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells

Scientific reports, 2021-06, Vol.11 (1), p.11868-11868, Article 11868

2021

Volltextzugriff (PDF)

Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo

Neurobiology of disease, 2014-05, Vol.65 (100), p.25-34

2014

Volltextzugriff (PDF)

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

Neurotherapeutics, 2015-04, Vol.12 (2), p.352-363

2015

Volltextzugriff (PDF)

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

Frontiers in neuroscience, 2019-06, Vol.13, p.551-551

2019

Volltextzugriff (PDF)

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

PloS one, 2014-03, Vol.9 (6), p.e90833

2014

Volltextzugriff (PDF)

Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

PloS one, 2009-09, Vol.4 (9), p.e7107-e7107

2009

Volltextzugriff (PDF)

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Acta neuropathologica, 2011-04, Vol.121 (4), p.519-527

2011

Volltextzugriff (PDF)

RNA Misprocessing in C9orf72 -Linked Neurodegeneration

Frontiers in cellular neuroscience, 2017-07, Vol.11, p.195-195

2017

Volltextzugriff (PDF)

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

PloS one, 2014-03, Vol.9 (3), p.e91269

2014

Volltextzugriff (PDF)

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

Neuropathology, 2012-10, Vol.32 (5), p.505-514

2012

Volltextzugriff (PDF)

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1798-1809

2010

Volltextzugriff (PDF)

1 – 25 von 94

Suche als RSS-Feed

Aktive Filter

ThemaNeurosciences

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(93)
Mit Volltextzugriff
(90)

Publikationsform

Artikel
(93)
Buchkapitel
(1)

Sprache

Englisch
(94)
Japanisch
(22)

Erscheinungsjahr

n.n

Thema

Science & Technology
(91)
Life Sciences & Biomedicine
(85)
Neurosciences & Neurology
(82)
Humans
(74)
Amyotrophic Lateral Sclerosis
(59)
Amyotrophic Lateral Sclerosis - Genetics
(54)
Male
(39)
Female
(38)
Clinical Neurology
(37)
Mutation
(35)
Neurology
(32)
Middle Aged
(29)
Aged
(28)
Neurodegeneration
(22)
Animals
(19)
Proteins
(19)
Adult
(17)
Disease
(16)
Mutation - Genetics
(16)

14 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Brain
(15)
Neurobiology Of Aging
(15)
Neuron
(8)
Acta Neuropathologica
(5)
Acta Neuropathologica Communications
(5)
Annals Of Neurology
(5)
Plos One
(5)
Frontiers In Cellular Neuroscience
(3)
Journal Of Neurology
(3)
Brain Communications
(2)

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

C9orf72 intermediate expansions of 24-30 repeats are associated with ALS

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

Tar DNA-binding protein-43 (TDP-43) regulates axon growth in vitro and in vivo

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

Heterogeneous Nuclear Ribonucleoprotein E2 (hnRNP E2) Is a Component of TDP-43 Aggregates Specifically in the A and C Pathological Subtypes of Frontotemporal Lobar Degeneration

An evaluation of a SVA retrotransposon in the FUS promoter as a transcriptional regulator and its association to ALS

Latent cluster analysis of ALS phenotypes identifies prognostically differing groups

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

RNA Misprocessing in C9orf72 -Linked Neurodegeneration

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

An MND/ALS phenotype associated with C9orf72 repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Aktive Filter

Suchergebnisse filtern