Results 141 to 150 of about 2,299 (157)

Somatic Mutation in UBA1 and ANCA-associated Vasculitis

Journal of Rheumatology, 2021
Hannah Laure Elfassy, Jean-Paul Makhzoum, Carolyn Ross   +2 more
exaly  

Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy

European Journal of Neurology, 2022
Elahe Elahi, Najmeh Salehi, Shahriar Nafissi   +2 more
exaly  

AB1275 SUGGESTED APPROACH TO UBA1 GENE MUTATION TESTING IN PATIENTS WITH SUSPECTED VEXAS SYNDROME

Annals of the Rheumatic Diseases, 2022
K. Pavelcova, B. Stiburkova, V. Balajková, M. Belickova, C. Salek, M. Vostry, H. Mann, J. Vencovský   +7 more
openaire   +1 more source

Looking for somatic mutations in UBA1 in patients with chronic myelomonocytic leukemia associated with systemic inflammation and autoimmune diseases

Leukemia & Lymphoma, 2021
Dupuy, Henry, Dussiau, Charles, Bidet, Audrey, Sauvezie, Mathieu, De-Grande, Anne Charlotte, Decombe, Joel, Riviere, Etienne, Forcade, Edouard, Bonnet, Fabrice, Dumas, Pierre-Yves, Duffau, Pierre, Pigneux, Arnaud, Viallard, Jean-Francois, Lazaro, Estibaliz, Dimicoli-Salazar, Sophie   +14 more
openaire   +3 more sources

Classification of Patients with Relapsing Polychondritis Based on Somatic Mutations in UBA1

2021
Ferrada, M, Sikora, K, Lou, Y, Wells, K, Patel, B, Cardona, DO, Rose, E, Goodspeed, W, Hoffman, P, Jones, A, Wilson, L, Young, N, Savic, S, Kastner, D, Ombrello, A, Beck, D, Grayson, P   +16 more
openaire   +1 more source

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular Disorders, 2013
Nomazulu Dlamini, Simon Paine
exaly  

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene

Neuromuscular Disorders, 2015
Maria Jędrzejowska, Anna Kostera-Pruszczyk   +1 more
exaly  

Classification of Patients with Relapsing Polychondritis Based on Somatic Mutations in UBA1

2020
Ferrada, M, Sikora, K, Savic, S, Luo, Y, Wells, K, Rose, E, Quinn, K, Goodspeed, W, Jones, A, Le, M, Ombrello, A, Deng, Z, Gadina, M, Tsai, W, Aksentijevich, I, Kastner, D, Beck, D, Grayson, PC   +17 more
openaire   +1 more source

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Brain, 2018
Thomas Gillingwater, Ewout Jn Groen, James N Sleigh   +2 more
exaly  

Three UBA1 clones for a unique VEXAS syndrome

Rheumatology
Louis Terriou, Benjamin Podvin, Claude Preudhomme   +2 more
exaly