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...

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

European journal of neurology, 2014-04, Vol.21 (4), p.552-562

2014

Volltextzugriff (PDF)

Olfactory bulb atrophy and caspase activation observed in the BACHD rat models of Huntington disease

Neurobiology of disease, 2019-05, Vol.125, p.219-231

2019

Volltextzugriff (PDF)

PIK3R1 mutations in SHORT syndrome

Clinical genetics, 2014-09, Vol.86 (3), p.292-294

2014

Volltextzugriff (PDF)

Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

Cell death & disease, 2014-04, Vol.5 (4), p.e1180-e1180

2014

Volltextzugriff (PDF)

The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

Volltextzugriff (PDF)

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Human molecular genetics, 2013-02, Vol.22 (3), p.508-518

2013

Volltextzugriff (PDF)

A behavioral comparison of the common laboratory rat strains Lister Hooded, Lewis, Fischer 344 and Wistar in an automated homecage system

Genes, brain and behavior, 2014-03, Vol.13 (3), p.305-321

2014

Volltextzugriff (PDF)

Genetic panel sequencing for advanced stage cancer disease in the clinic

Annals of oncology, 2017-10, Vol.28, p.vii17-vii17

2017

Volltextzugriff (PDF)

EP-1074: Circulating cell free DNA: dynamics in patients with head and neck cancer during radiochemotherapy

Radiotherapy and oncology, 2016-04, Vol.119, p.S516-S517

2016

Volltextzugriff (PDF)

Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013-06, Vol.83 (6), p.596-597

2013

Volltextzugriff (PDF)

Behavioral and in vivo electrophysiological evidence for presymptomatic alteration of prefrontostriatal processing in the transgenic rat model for huntington disease

The Journal of neuroscience, 2011-06, Vol.31 (24), p.8986-8997

2011

Volltextzugriff (PDF)

B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A16-A16

2014

Volltextzugriff (PDF)

B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A10-A10

2014

Volltextzugriff (PDF)

M06 Olesoxime Treatment Inhibits The Formation Of Mhtt Fragments Through Suppression Of Calpain Activity, And Leads To Behavioural And Neurological Improvements In The Bachd Rat

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A96-A96

2014

Volltextzugriff (PDF)

Specific transcriptional changes in human fetuses with autosomal trisomies

Cytogenetic and genome research, 2007-01, Vol.119 (3-4), p.171-184

2007

Volltextzugriff (PDF)

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

Lancet neurology, 2004-05, Vol.3 (5), p.291-304

2004

Volltextzugriff (PDF)

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

Molecular syndromology, 2012-08, Vol.3 (2), p.94-97

2012

Volltextzugriff (PDF)

14-3-3 proteins in the nervous system

Nature reviews. Neuroscience, 2003-09, Vol.4 (9), p.752-762

2003

Volltextzugriff (PDF)

Recommendations for whole genome sequencing in diagnostics for rare diseases

European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1017-1021

2022

Volltextzugriff (PDF)

Involvement of alpha-synuclein in Parkinson's disease and other neurodegenerative disorders

Journal of Neural Transmission, 2000-01, Vol.107 (1), p.31-40

2000

Volltextzugriff (PDF)

Analysis of Mitochondrial Targeting Sequence and Coding Region Polymorphisms of the Manganese Superoxide Dismutase Gene in German Parkinson Disease Patients

Biochemical and biophysical research communications, 1999-02, Vol.255 (3), p.749-752

1999

Volltextzugriff (PDF)

Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease

Journal of Neural Transmission, 2006-12, Vol.113 (12), p.1903-1908

2006

Volltextzugriff (PDF)

Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition

Proceedings of the National Academy of Sciences - PNAS, 2018-09, Vol.115 (37), p.E8765-E8774

2018

Volltextzugriff (PDF)

Iron in neurodegenerative disorders

Neurotoxicity research, 2002-01, Vol.4 (7-8), p.637-653

2002

Volltextzugriff (PDF)

Einzelbasen-Polymorphismen im Östrogenrezeptor-α als Hinweis auf eine mögliche Fehlfunktion des Rezeptors und Ursache für das Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)

Geburtshilfe und Frauenheilkunde, 2016, Vol.76 (10)

2016

Volltextzugriff (PDF)

1 – 25 von 548

Suche als RSS-Feed

Aktive Filter

KollektionSpringerLINK Contemporary (Konsortium Baden-Württemberg)

ThemaGenetics

ThemaNeurology

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(452)
Mit Volltextzugriff
(441)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

Olfactory bulb atrophy and caspase activation observed in the BACHD rat models of Huntington disease

PIK3R1 mutations in SHORT syndrome

Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

The Undiagnosed Diseases Network International: Five years and more

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

A behavioral comparison of the common laboratory rat strains Lister Hooded, Lewis, Fischer 344 and Wistar in an automated homecage system

Genetic panel sequencing for advanced stage cancer disease in the clinic

EP-1074: Circulating cell free DNA: dynamics in patients with head and neck cancer during radiochemotherapy

Novel SLC9A6 mutations in two families with Christianson syndrome

Behavioral and in vivo electrophysiological evidence for presymptomatic alteration of prefrontostriatal processing in the transgenic rat model for huntington disease

B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

M06 Olesoxime Treatment Inhibits The Formation Of Mhtt Fragments Through Suppression Of Calpain Activity, And Leads To Behavioural And Neurological Improvements In The Bachd Rat

Specific transcriptional changes in human fetuses with autosomal trisomies

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

Mirror-Image Asymmetry in Monozygotic Twins with Kabuki Syndrome

14-3-3 proteins in the nervous system

Recommendations for whole genome sequencing in diagnostics for rare diseases

Involvement of alpha-synuclein in Parkinson's disease and other neurodegenerative disorders

Analysis of Mitochondrial Targeting Sequence and Coding Region Polymorphisms of the Manganese Superoxide Dismutase Gene in German Parkinson Disease Patients

Mutation analysis of the seven in absentia homolog 1 (SIAH1) gene in Parkinson's disease

Early postnatal behavioral, cellular, and molecular changes in models of Huntington disease are reversible by HDAC inhibition

Iron in neurodegenerative disorders

Einzelbasen-Polymorphismen im Östrogenrezeptor-α als Hinweis auf eine mögliche Fehlfunktion des Rezeptors und Ursache für das Mayer-Rokitansky-Küster-Hauser-Syndrom (MRKHS)

Aktive Filter

Suchergebnisse filtern