Results 61 to 70 of about 9,462 (208)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance [PDF]

Human Molecular Genetics, 2001
We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families.
U E, Pesch, B, Leo-Kottler, S, Mayer, B, Jurklies, U, Kellner, E, Apfelstedt-Sylla, E, Zrenner, C, Alexander, B, Wissinger   +8 more
openaire   +2 more sources

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, Accepted Article.
Background Type I interferonopathies are heterogeneous diseases driven by dysregulated IFN‐I signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. Objective To characterize the clinical, immunological, genetic, molecular profiles of patients with suspected enhanced IFN‐I signaling, and assess ...
Ismail Yaz, Seza Ozen, Hacer N. Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet E. Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet O. Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Visual Prognosis in Autosomal Dominant Optic Atrophy (Kjer Type)

American Journal of Ophthalmology, 1993
We examined 25 patients from three pedigrees with dominant optic atrophy (Kjer type). Follow-up on 20 patients ranged from five to 40 years (mean, 16 years; median, 13 years). Visual acuity ranged from 20/20 (in one 58-year-old man with an affected father and three affected children) to 20/400. The median initial visual acuity was 20/60, and the median
D, Eliott, E I, Traboulsi, I H, Maumenee
openaire   +2 more sources

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +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

Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy [PDF]

Neurology Genetics, 2019
To characterize the phenotype in individuals with OPA3-related autosomal dominant optic atrophy and cataract (ADOAC) and peripheral neuropathy (PN).Two probands with multiple affected relatives and one sporadic case were referred for evaluation of a PN. Their phenotype was determined by clinical ± neurophysiological assessment.
Horga A., Bugiardini E., Manole A., Bremner F., Jaunmuktane Z., Dankwa L., Rebelo A. P., Woodward C. E., Hargreaves I. P., Cortese A., Pittman A. M., Brandner S., Polke J. M., Pitceathly R. D. S., Zuchner S., Hanna M. G., Scherer S. S., Houlden H., Reilly M. M.   +18 more
openaire   +6 more sources

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

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