UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 200

Sortiert nach

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.334-349

2014

Link zum Volltext

Verfügbarkeit prüfen

TUBB3 and KIF21A in neurodevelopment and disease

Frontiers in neuroscience, 2023-08, Vol.17, p.1226181-1226181

2023

Link zum Volltext

Verfügbarkeit prüfen

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

Cell reports (Cambridge), 2018-08, Vol.24 (7), p.1865-1879.e9

2018

Link zum Volltext

Verfügbarkeit prüfen

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

Current opinion in genetics & development, 2011-06, Vol.21 (3), p.286-294

2011

Link zum Volltext

Verfügbarkeit prüfen

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

American journal of human genetics, 2016-06, Vol.98 (6), p.1220-1227

2016

Link zum Volltext

Verfügbarkeit prüfen

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis

Bioscience reports, 2010-10, Vol.30 (5), p.319

2010

Link zum Volltext

Verfügbarkeit prüfen

Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome

Ophthalmology (Rochester, Minn.), 2014-07, Vol.121 (7), p.1461-1468

2014

Link zum Volltext

Verfügbarkeit prüfen

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Human molecular genetics, 2012-12, Vol.21 (26), p.5484-5499

2012

Link zum Volltext

Verfügbarkeit prüfen

Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura

Developmental cell, 2017-09, Vol.42 (5), p.445-461.e5

2017

Link zum Volltext

Verfügbarkeit prüfen

A framework for the evaluation of patients with congenital facial weakness

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.158-17, Article 158

2021

Link zum Volltext

Verfügbarkeit prüfen

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-06, Vol.153B (4), p.937-947

2010

Link zum Volltext

Verfügbarkeit prüfen

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons

eLife, 2019-06, Vol.8

2019

Link zum Volltext

Verfügbarkeit prüfen

Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development

Cell reports (Cambridge), 2019-10, Vol.29 (2), p.437-452.e4

2019

Link zum Volltext

Verfügbarkeit prüfen

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

American journal of human genetics, 2012-07, Vol.91 (1), p.171-179

2012

Link zum Volltext

Verfügbarkeit prüfen

Human genetic disorders of axon guidance

Cold Spring Harbor perspectives in biology, 2010-03, Vol.2 (3), p.a001784-a001784

Engle, Elizabeth C

2010

Link zum Volltext

Verfügbarkeit prüfen

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2575

2021

Link zum Volltext

Verfügbarkeit prüfen

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance

Human molecular genetics, 2017-08, Vol.26 (R1), p.R37-R44

2017

Link zum Volltext

Verfügbarkeit prüfen

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

American journal of human genetics, 2002-11, Vol.71 (5), p.1195-1199

2002

Link zum Volltext

Verfügbarkeit prüfen

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography: A Predictor of Visual Acuity?

Ophthalmology (Rochester, Minn.), 2011-08, Vol.118 (8), p.1653-1660

2011

Link zum Volltext

Verfügbarkeit prüfen

The clinical spectrum of homozygous HOXA1 mutations

American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1235-1240

2008

Link zum Volltext

Verfügbarkeit prüfen

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia

JAMA ophthalmology, 2024-03, Vol.142 (3), p.243

2024

Link zum Volltext

Verfügbarkeit prüfen

Human disorders of axon guidance

Current opinion in neurobiology, 2012-10, Vol.22 (5), p.837-843

2012

Link zum Volltext

Verfügbarkeit prüfen

Nuclear IMPDH Filaments in Human Gliomas

Journal of neuropathology and experimental neurology, 2021-10, Vol.80 (10), p.944-954

2021

Link zum Volltext

Verfügbarkeit prüfen

Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

Investigative ophthalmology & visual science, 2007-12, Vol.48 (12), p.5505-5511

2007

Link zum Volltext

Verfügbarkeit prüfen

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse

Developmental biology, 2022-10, Vol.490, p.126-133

2022

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 200

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(186)
Mit Volltextzugriff
(174)

Publikationsform

Sprache

Englisch
(200)
Japanisch
(28)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

TUBB3 and KIF21A in neurodevelopment and disease

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis

Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura

A framework for the evaluation of patients with congenital facial weakness

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders

Stem cell-derived cranial and spinal motor neurons reveal proteostatic differences between ALS resistant and sensitive motor neurons

Etv1 Controls the Establishment of Non-overlapping Motor Innervation of Neighboring Facial Muscles during Development

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1−/− Mice

Human genetic disorders of axon guidance

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography: A Predictor of Visual Acuity?

The clinical spectrum of homozygous HOXA1 mutations

Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia

Human disorders of axon guidance

Nuclear IMPDH Filaments in Human Gliomas

Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome

TWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse

Suchergebnisse filtern