Results 181 to 190 of about 1,441,098 (322)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier+20 more
wiley +1 more source
Publisher Correction: Drug-resistant epilepsy associated with peripheral complement decreases and sex-specific cytokine imbalances: a pilot study. [PDF]
Pinzon-Hoyos N+5 more
europepmc +1 more source
The Treponema pallidum Complement-Fixation Test
Harold J. Magnuson, Joseph Portnoy
openalex +1 more source
A BIOCHEMICAL STUDY OF THE PHENOMENA KNOWN AS COMPLEMENT-SPLITTING [PDF]
Jacob Bronfenbrenner, Hideyo Noguchi
openalex +1 more source
Is Uber a substitute or complement for public transit?
Jonathan D. Hall+2 more
semanticscholar +1 more source
Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
ABSTRACT Peripheral neuropathies (PNs) affect over 20 million individuals in the United States, manifesting as a wide range of sensory, motor, and autonomic nerve symptoms. While various conditions such as diabetes, metabolic disorders, trauma, autoimmune disease, and chemotherapy‐induced neurotoxicity have been linked to PN, approximately one‐third of
Julie Choi+7 more
wiley +1 more source