Results 101 to 110 of about 1,459,190 (233)

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29

BMC Medical Genomics
Background Copy number variations (CNVs) have emerged as significant contributors to the elusive genetic causality of inherited eye diseases. In this study, we describe a case with optic atrophy and a brain aneurysm, in which a de novo CNV 3q29 deletion ...
Ethan Hung-Hsi Wang, Pei-Hsuan Lin, Pei-Liang Wu, Eugene Yu-Chuan Kang, Laura Liu, Lung-Kun Yeh, Kuan-Jen Chen, Meng-Chang Hsiao, Nan-Kai Wang   +8 more
doaj   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy.

PLoS ONE, 2013
Autosomal dominant optic atrophy (ADOA) is a slowly progressive optic neuropathy that has been associated with mutations of the OPA1 gene. In patients, the disease primarily affects the retinal ganglion cells (RGCs) and causes optic nerve atrophy and ...
Georgia Perganta, Alun R Barnard, Christiana Katti, Athanasios Vachtsevanos, Ron H Douglas, Robert E MacLaren, Marcela Votruba, Sumathi Sekaran   +7 more
doaj   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

Optic Nerve Hypoplasia in Autosomal Dominant Optic Atrophy

, 2009
Autosomal dominant optic atrophy (ADOA) is the most common hereditary optic neuropathy, due to retinal ganglion cells degeneration.
Michelle Ariss; Dan Milea; Marianne Wegener; Michael Larsen; Elias Traboulsi
core  

Dominant Optic Atrophy

, 2021
Dr.
Andrew G. Lee, MD; Rujman Khan
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Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy

medRxiv
Objective: Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural hearing loss, optic
J. Roberts, Abby F. Tang, D. Hernandez, B. Carman, Liam Oiknine, Cris M. Brown, S. Hurst, Fumihiko Urano   +7 more
semanticscholar   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Autosomal Dominant Optic Atrophy In Singapore

, 2015
Autosomal dominant optic atrophy (ADOA) is a ubiquitous condition causing bilateral visual loss, most commonly related to mutations in the OPA1 gene, mapped on the chromosome 3q28-q29. Recent data suggests a minimum prevalence of 4.07/100 000 in northern
Sharon L. Tow; Jing-Liang Loo; P. Amati-Bonneau; D. Bonneau; V. Procaccio; P. Reynier; Dan Milea, Sharon L. Tow; Jingliang Loo; Patrizia Amati+AC0-Bonneau; Dominique Bonneau; Vincent Procaccio; Pascal Reynier; Dan Milea   +1 more
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