Results 81 to 90 of about 45,153 (265)

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Two Novel Variants in MT-RNR1 Gene Associated with Hereditary Optic Neuropathy: A Case Report

Case Reports in Ophthalmology
Introduction: Hereditary optic neuropathies are primarily disorders of mitochondrial dysfunction leading to the metabolic failure of the highly energy-dependent retinal ganglion cells.
Sara KamaliZonouzi, Jonathan Micieli
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Bilateral Retrobulbar Optic Neuropathy in the Setting of Interferon Alpha-2a Therapy

Case Reports in Ophthalmology, 2014
The development of biopharmaceutical agents, including the interferons (IFN), offers new treatment options for a wide range of medical conditions. Such advancements, however, have not come without risk to patients.
Dujon R.W. Fuzzard, Heather G. Mack, R.C. Andrew Symons   +2 more
doaj   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

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

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System

Annals of Neurology, EarlyView.
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti, Nicolas R. Barthélemy, Kanta Horie, Cindy V. Ly, Kaleigh F. Roberts, Srinivas Koutarapu, Richard J. Perrin, Erin E. Franklin, Chiara Pedicone, Joshua Orrick, Justin Melendez, Timothy M. Miller, Chihiro Sato, Nupur Ghoshal, Alison M. Goate, Celeste M. Karch, Randall J. Bateman, Soumya Mukherjee   +17 more
wiley   +1 more source

Endoscopic Proximal Hamstring Repairs Remain Safe and Beneficial With High Patient Satisfaction at a Minimum of 6‐Year Follow‐Up

Arthroscopy, EarlyView.
Purpose To evaluate midterm outcomes of endoscopic proximal hamstring repair in a previously established cohort. Methods A retrospective study design was used for a midterm (minimum 6 years) follow‐up time. Patients completed the questionnaires over the phone or electronically on REDCap after consent. The questionnaires included the modified Harris Hip
Shannon N. Greenwood, Temitope Adebayo, Emily K. Reinke, Amanda N. Fletcher, Brian D. Lewis, Elizabeth J. Scott, Richard Charles Mather   +6 more
wiley   +1 more source

Deucravacitinib in Active Psoriatic Arthritis: Efficacy and Safety up to 52 Weeks From the Randomized, Double‐Blind, Phase 3 POETYK PsA‐2 Trial

Arthritis &Rheumatology, Accepted Article.
Objective To assess the efficacy and safety of deucravacitinib, an oral, selective tyrosine kinase 2 inhibitor, in patients with psoriatic arthritis (PsA) who were naive to biologic disease‐modifying antirheumatic drugs or received tumor necrosis factor inhibitors. Methods In the 52‐week (W), double‐blind, placebo‐controlled, phase 3 POETYK PsA‐2 study
Philip J. Mease, Vinod Chandran, April W. Armstrong, Ricardo Blanco, Alexis Ogdie, Evan L. Siegel, Alice B. Gottlieb, Xiaofeng Zeng, Diamant Thaçi, Mitsumasa Kishimoto, Hendrik Schulze‐Koops, Alan Kivitz, Eva Dokoupilová, Akimichi Morita, Eric M. Ruderman, Michael Plewinski, Kejia Wang, Caroline Sardinas, Eleni Vritzali, John Vaile, Atul Deodhar   +20 more
wiley   +1 more source