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List of works by Irene Gottlob

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Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

scientific article
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis

scientific article
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

scientific article
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus

scientific article
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?

scientific article published on 29 April 2011
The prevalence of nystagmus: the Leicestershire nystagmus survey

scientific article
High-resolution in vivo imaging in achromatopsia

scientific article published on 6 January 2011
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).

scientific article
The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development

scientific journal article
Plasticity and stability of the visual system in human achiasma

scientific article published on August 2012
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.

scientific article published on 27 March 2008
Risk factors and genetics in common comitant strabismus: a systematic review of the literature

scientific article published on September 2013
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

scientific journal article
A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

scientific article published on 12 February 2013
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

scientific article
Reading Strategies in Mild to Moderate Strabismic Amblyopia: An Eye Movement Investigation

article by Evgenia Kanonidou et al published 1 July 2010 in Investigative Ophthalmology Visual Science
The Role of FRMD7 in Idiopathic Infantile Nystagmus

scientific article
Nystagmus in Childhood

scientific article published on July 31, 2014
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

scientific article published on August 14, 2013
Physiology and pathology of eye-head coordination

scientific article published on 14 April 2007
Midbrain syndrome with eye movement disorder: dramatic improvement after cranioplasty

scientific article published in December 2002
Clinical and Oculomotor Characteristics of Albinism Compared toFRMD7Associated Infantile Nystagmus

scientific article published on April 8, 2011
Abnormal retinal development associated with FRMD7 mutations.

scientific article
An educational intervention to improve adherence to high-dosage patching regimen for amblyopia: a randomised controlled trial

scientific article published on July 1, 2014
The VF-14 and psychological impact of amblyopia and strabismus

scientific article
Living with nystagmus: a qualitative study

scientific article published on April 19, 2012
Aetiology of infantile nystagmus

scientific article published on February 1, 2014
Combined pharmacologic and surgical approach to acquired nystagmus due to multiple sclerosis

scientific article (publication date: November 2002)
Optic Nerve Head Development in Healthy Infants and Children Using Handheld Spectral-Domain Optical Coherence Tomography.

scientific article published on 09 August 2016
Congenital fibrosis syndrome associated with central nervous system abnormalities

scientific article (publication date: July 2003)
Pediatric Optical Coherence Tomography in Clinical Practice-Recent Progress

scientific article
Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

scientific article
Is Handheld Optical Coherence Tomography Reliable in Infants and Young Children With and Without Nystagmus?

scientific article published on December 17, 2013
Elevation of one eye during tooth brushing

scientific article published in September 2002
High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia

scientific article published on May 1, 2015
Impact of chiasma opticum malformations on the organization of the human ventral visual cortex

scientific article
Normal macular structure measured with optical coherence tomography across ethnicity

scientific article published on February 11, 2014
Oscillopsia without nystagmus caused by head titubation in a patient with multiple sclerosis

scientific article published in June 2002
Reading performance in infantile nystagmus

scientific article
Smooth pursuit in infants: maturation and the influence of stimulation

scientific article published on April 11, 2011
In Vivo Morphology of the Optic Nerve and Retina in Patients With Parkinson's Disease

scientific article published in August 2016
The challenges of amblyopia treatment

scientific article
Retinal Development in Infants and Young Children with Achromatopsia.

scientific article
The Effect of Font Size on Reading Performance in Strabismic Amblyopia: An Eye Movement Investigation

scientific article published on January 23, 2014
Age-related changes in head and eye coordination

scientific article published in November 2004
Horizontal and vertical look and stare optokinetic nystagmus symmetry in healthy adult volunteers

scientific article published in February 2008
Association Between Adherence to Glasses Wearing During Amblyopia Treatment and Improvement in Visual Acuity

scientific article published on 13 October 2016
OKN Asymmetry in Human Subjects: A Literature Review

scientific article published on March 1, 2013
Reading in schizophrenic subjects and their nonsymptomatic first-degree relatives

scientific article
Treatment of acquired periodic alternating nystagmus with memantine: a case report

scientific article

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