Results 91 to 100 of about 9,451 (197)

Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1.

PLoS ONE, 2011
BackgroundAutosomal dominant spinocerebellar ataxia type 1 is an adult onset progressive disorder with well characterized neurodegeneration in the cerebellum and brainstem.
Sarah Stricker, Timm Oberwahrenbrock, Hanna Zimmermann, Jan Schroeter, Matthias Endres, Alexander U Brandt, Friedemann Paul   +6 more
doaj   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

The oscillatory response of the electroretinogram and neuronal adaptation

Acta Ophthalmologica, EarlyView.
Abstract After more than 50 years, there still remains a challenge and an interest to know more as well as extend and deepen our understanding of the small rapid wavelets, the oscillatory potentials (OPs), of the electroretinogram (ERG) and the neuronal adaptation of the retina.
Lillemor Wachtmeister, Anders Eklund
wiley   +1 more source

Prenatal and childhood exposure to smoking and retinal nerve fibre layer thickness: A meta‐analysis of three independent birth cohorts

Acta Ophthalmologica, EarlyView.
Abstract Purpose To examine retinal nerve fibre layer (RNFL) characteristics in relation to prenatal and postnatal smoking exposure in three independent birth cohorts: two Danish and one Australian cohort. Methods A combined meta‐analysis of peripapillary retinal nerve fibre thickness in the Copenhagen Prospective Studies on Asthma in Childhood 2000 ...
Linna Zhu, Inger Christine Munch, Samantha Sze‐Yee Lee, David A. Mackey, Tamo Sultan, Klaus Bønnelykke, Bo Chawes, Michael Larsen, Nicklas Brustad   +8 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

SARM1 loss protects retinal ganglion cells in a mouse model of autosomal dominant optic atrophy

The Journal of Clinical Investigation
Autosomal dominant optic atrophy (ADOA), the most prevalent hereditary optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding, Papa S. Ndiaye, Sydney R. Campbell, Michelle Y. Fry, Jincheng Gong, Sophia R. Wienbar, Whitney Gibbs, Philippe Morquette, Luke H. Chao, Michael Tri H. Do, Thomas L. Schwarz   +10 more
doaj   +1 more source

Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China

Journal of Ophthalmology, 2017
Purpose. To evaluate the clinical classification and characteristics of hereditary optic neuropathy patients in a single center in China. Method. Retrospective case study.
Dekang Gan, Mengwei Li, Jihong Wu, Xinghuai Sun, Guohong Tian   +4 more
doaj   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source