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...

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

Volltextzugriff (PDF)

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

Acta neuropathologica, 2013-12, Vol.126 (6), p.881-893

2013

Volltextzugriff (PDF)

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

Acta neuropathologica, 2014-06, Vol.127 (6), p.845-860

2014

Volltextzugriff (PDF)

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

Neurobiology of disease, 2020-02, Vol.134, p.104639, Article 104639

2020

Volltextzugriff (PDF)

O5‐02‐03: ONSET AGE MODIFIER FOR GRN‐ASSOCIATED FRONTOTEMPORAL LOBAR DEGENERATION

Alzheimer's & dementia, 2019-07, Vol.15 (7S_Part_31), p.P1616-P1617

2019

Volltextzugriff (PDF)

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

Volltextzugriff (PDF)

Relationship between C9orf72 repeat size and clinical phenotype

Current opinion in genetics & development, 2017-06, Vol.44, p.117-124

2017

Volltextzugriff (PDF)

TRIM25 mutation (p.C168), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism

Alzheimer's & dementia, 2023-07, Vol.19 (7), p.2805-2815

2023

Volltextzugriff (PDF)

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

Annals of medicine (Helsinki), 2012-12, Vol.44 (8), p.817-828

2012

Volltextzugriff (PDF)

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

Neuropathology, 2016-02, Vol.36 (1), p.27-38

2016

Volltextzugriff (PDF)

P3‐111: EVALUATING THE GENETIC IMPACT OF TIA1 GENE MUTATIONS IN A EUROPEAN COHORT OF ALS‐FTD SPECTRUM PATIENTS

Alzheimer's & dementia, 2018-07, Vol.14 (7S_Part_20), p.P1110-P1110

2018

Volltextzugriff (PDF)

P3‐121: RARE FRAMESHIFT AND DIGENIC MUTATIONS CONTRIBUTE TO DISEASE ETIOLOGY IN BELGIAN ALZHEIMER AND FRONTOTEMPORAL DEMENTIA PATIENTS

Alzheimer's & dementia, 2018-07, Vol.14 (7S_Part_21), p.P1113-P1114

2018

Volltextzugriff (PDF)

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

Neurobiology of aging, 2013-06, Vol.34 (6), p.1712.e1-1712.e7

2013

Volltextzugriff (PDF)

NEK1 GENETIC VARIABILITY IN A BELGIAN COHORT OF ALS AND FTD-ALS PATIENTS

Alzheimer's & dementia, 2017-07, Vol.13 (7), p.P1284-P1285

2017

Volltextzugriff (PDF)

THE MAPT P.ARG406TRP IS A FOUNDER MUTATION IN BELGIUM AND PRESENTS WITH AN ALZHEIMER DISEASE DEMENTIA-LIKE PHENOTYPE

Alzheimer's & dementia, 2017-07, Vol.13 (7), p.P1286-P1286

2017

Volltextzugriff (PDF)

P3‐128: EXPLORING THE MOLECULAR MECHANISM OF NEURONAL HYPEREXCITABILITY IN DEMENTIA

Alzheimer's & dementia, 2018-07, Vol.14 (7S_Part_21), p.P1116-P1117

2018

Volltextzugriff (PDF)

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Genome medicine, 2021-04, Vol.13 (1), p.59-59, Article 59

2021

Volltextzugriff (PDF)

O3‐13‐03: Massive parallel gene panel sequencing in a belgian ftld cohort of causal genes associated with diverse neurodegenerative brain diseases

Alzheimer's & dementia, 2015-07, Vol.11 (7S_Part_5), p.P251-P251

2015

Volltextzugriff (PDF)

P2‐127: TDP‐43 AS A BIOMARKER FOR FRONTOTEMPORAL LOBE DEGENERATION: A SYSTEMATIC REVIEW OF EXISTING ANTIBODIES

Alzheimer's & dementia, 2014-07, Vol.10 (4S_Part_13), p.P517-P518

2014

Volltextzugriff (PDF)

ALS Genes in the Genomic Era and their Implications for FTD

Trends in genetics, 2018-06, Vol.34 (6), p.404-423

2018

Volltextzugriff (PDF)

EXOME SEQUENCING IN ATYPICAL FRONTOTEMPORAL DEMENTIA WITH PERI-ROLANDIC ATROPHY SUGGESTS A ROLE FOR MATRIX METALLOPROTEINASES IN FRONTOTEMPORAL DEMENTIA

Alzheimer's & dementia, 2017-07, Vol.13 (7), p.P1285-P1285

2017

Volltextzugriff (PDF)

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Proceedings of the National Academy of Sciences - PNAS, 2013-03, Vol.110 (13), p.4986-4991

2013

Volltextzugriff (PDF)

1 – 25 von 263

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(256)
Mit Volltextzugriff
(226)

Publikationsform

Sprache

Englisch
(263)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

O5‐02‐03: ONSET AGE MODIFIER FOR GRN‐ASSOCIATED FRONTOTEMPORAL LOBAR DEGENERATION

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer’s disease

Relationship between C9orf72 repeat size and clinical phenotype

TRIM25 mutation (p.C168), coding for an E3 ubiquitin ligase, is a cause of early‐onset autosomal dominant dementia with amyloid load and parkinsonism

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

P3‐111: EVALUATING THE GENETIC IMPACT OF TIA1 GENE MUTATIONS IN A EUROPEAN COHORT OF ALS‐FTD SPECTRUM PATIENTS

P3‐121: RARE FRAMESHIFT AND DIGENIC MUTATIONS CONTRIBUTE TO DISEASE ETIOLOGY IN BELGIAN ALZHEIMER AND FRONTOTEMPORAL DEMENTIA PATIENTS

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment

NEK1 GENETIC VARIABILITY IN A BELGIAN COHORT OF ALS AND FTD-ALS PATIENTS

THE MAPT P.ARG406TRP IS A FOUNDER MUTATION IN BELGIUM AND PRESENTS WITH AN ALZHEIMER DISEASE DEMENTIA-LIKE PHENOTYPE

P3‐128: EXPLORING THE MOLECULAR MECHANISM OF NEURONAL HYPEREXCITABILITY IN DEMENTIA

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

O3‐13‐03: Massive parallel gene panel sequencing in a belgian ftld cohort of causal genes associated with diverse neurodegenerative brain diseases

P2‐127: TDP‐43 AS A BIOMARKER FOR FRONTOTEMPORAL LOBE DEGENERATION: A SYSTEMATIC REVIEW OF EXISTING ANTIBODIES

ALS Genes in the Genomic Era and their Implications for FTD

EXOME SEQUENCING IN ATYPICAL FRONTOTEMPORAL DEMENTIA WITH PERI-ROLANDIC ATROPHY SUGGESTS A ROLE FOR MATRIX METALLOPROTEINASES IN FRONTOTEMPORAL DEMENTIA

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease

Suchergebnisse filtern