Results 91 to 100 of about 1,459,190 (233)

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

Orphanet Journal of Rare Diseases, 2017
Background Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations.
Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi-Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi   +21 more
doaj   +1 more source

Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. [PDF]

PLoS ONE, 2009
Optic atrophy 1 (OPA1) is a dynamin-like GTPase located in the inner mitochondrial membrane and mutations in OPA1 are associated with autosomal dominant optic atrophy (DOA).
Sha Tang, Phung Khanh Le, Stephanie Tse, Douglas C Wallace, Taosheng Huang   +4 more
doaj   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). I. Treatments in preclinical and early clinical development

Epilepsia, EarlyView.
Abstract Over the last 34 years, the Eilat Conference on New Antiepileptic Drugs and Devices has provided an interactive forum for stakeholders to discuss investigational and recently licensed treatments for seizures and epilepsy. The Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII) took place in Madrid, Spain, on May 3 ...
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. [PDF]

PLoS ONE, 2009
Optic Atrophy 1 (OPA1) is a ubiquitously expressed dynamin-like GTPase in the inner mitochondrial membrane. It plays important roles in mitochondrial fusion, apoptosis, reactive oxygen species (ROS) and ATP production.
Parvin Shahrestani, Hung-Tat Leung, Phung Khanh Le, William L Pak, Stephanie Tse, Karen Ocorr, Taosheng Huang   +6 more
doaj   +1 more source

Epilepsy syndromes classification

Epilepsia Open, EarlyView.
Abstract Epilepsy syndromes are distinct electroclinical entities which have been recently defined by the International League Against Epilepsy Nosology and Definitions Task Force. Each syndrome is associated with “a characteristic cluster of clinical and EEG features, often supported by specific etiologic findings”.
Elaine C. Wirrell, Nicola Specchio, Rima Nabbout, Phillip L. Pearl, Kate Riney   +4 more
wiley   +1 more source

Technological advances in the diagnosis and management of inherited optic neuropathies

Frontiers in Neurology
Preferential degeneration of retinal ganglion cells (RGCs) is a defining feature of the inherited optic neuropathies (IONs), a group of monogenic eye diseases predominately comprising Leber hereditary optic neuropathy (LHON) and autosomal dominant optic ...
John O. T. Britton, John O. T. Britton, Patrick Yu-Wai-Man, Patrick Yu-Wai-Man, Patrick Yu-Wai-Man, Patrick Yu-Wai-Man, Benson S. Chen, Benson S. Chen, Benson S. Chen   +8 more
doaj   +1 more source

Dominant optic atrophy in Denmark – report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

BMC Medical Genetics, 2012
Background Investigation of the OPA1 mutation spectrum in autosomal dominant optic atrophy (ADOA) in Denmark. Methods Index patients from 93 unrelated ADOA families were assessed for a common Danish founder mutation (c.2826_2836delinsGGATGCTCCA) inOPA1 ...
Almind Gitte J, Ek Jakob, Rosenberg Thomas, Eiberg Hans, Larsen Michael, LuCamp LuCamp, Brøndum-Nielsen Karen, Grønskov Karen   +7 more
doaj   +1 more source

Loss of SARM1 protects against retinal ganglion cell degeneration in Autosomal Dominant Optic Atrophy

bioRxiv
Autosomal Dominant Optic Atrophy (ADOA), the most prevalent inherited optic neuropathy, leads to retinal ganglion cell (RGC) degeneration and vision loss.
Chen Ding, P. S. Ndiaye, Sydney R. Campbell, Michelle Y. Fry, Jincheng Gong, Sophia Wienbar, Whitney Gibbs, Philippe Morquette, Lu-Ke H. Chao, Michael Tri H. Do, Thomas L. Schwarz   +10 more
semanticscholar   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Walsh & Hoyt: Dominant Optic Atrophy

, 2005
Autosomal dominant optic atrophy, type Kjer (McKusick no. 165500, gene symbol OPA1) (359), is believed to be the most common of the hereditary optic neuropathies. The estimated disease prevalence is 150,000, or as high as 110,000 in Denmark (360,361)
Nancy J. Newman, MD
core   +1 more source