Results 61 to 70 of about 9,451 (197)

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

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

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

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

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 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

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

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