Results 151 to 160 of about 3,419 (164)

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

European Journal of Neurology, 2022
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri   +2 more
exaly  

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review

Modern Rheumatology Case Reports, 2022
Melissa Hart, Timothy Burns, Pankaj Bansal   +2 more
exaly  

A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

Frontiers in Pediatrics, 2020
Xin Hua Wang
exaly  

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

Brain, 2018
Hannah K Shorrock, Dinja Van Der Hoorn, Maica Llavero Hurtado   +2 more
exaly  

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy

F1000Research, 2017
Lisa Baumbach-Reardon
exaly  

Shared and distinct mechanisms of UBA1 inactivation across different diseases

EMBO Journal
Jason C Collins, Samuel J Magaziner, Maya English   +2 more
exaly  

VEXAS syndrome with p.Met41Leu UBA1 gene mutation misdiagnosed as tumid lupus: A series of 3 cases

JAAD Case Reports
Christopher T Richardson
exaly  

A comprehensive prognostic and immune infiltration analysis of UBA1 in pan‐cancer: A computational analysis and in vitro experiments

Journal of Cellular and Molecular Medicine
Can Chen, Yiwei Li, Pengfei Shi
exaly  

Three UBA1 clones for a unique VEXAS syndrome

Rheumatology
Benjamin Podvin, Olivier Nibourel, Alice Marceau-Renaut   +2 more
exaly  

Efficient detection of somatic UBA1 variants and clinical scoring system predicting patients with variants in VEXAS syndrome

Rheumatology
Ayaka Maeda, Naomi Tsuchida, Yuri Uchiyama   +2 more
exaly