Results 91 to 100 of about 1,452,519 (228)
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 +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
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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 +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 +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 +1 more
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eLifeAutosomal dominant optic atrophy (DOA) is a progressive form of blindness caused by degeneration of retinal ganglion cells and their axons, mainly caused by mutations in the OPA1 mitochondrial dynamin like GTPase (OPA1) gene.
Yohei Nitta +7 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider +3 more
wiley +1 more source
A Novel OPA1 Mutation in Autosomal Dominant Optic Atrophy
, 2015 Autosomal dominant optic atrophy (ADOA), or Kjer\u27s disease, often overlaps clinically with other forms of optic atrophy making diagnosis challenging.
Jordan A. Margo; Jana A. Bregman; Vivian Rismondo
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