Results 181 to 190 of about 1,441,098 (322)

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

COMPLEMENT FIXATION IN PERTUSSIS [PDF]

open access: green, 1915
Miriam Olmstead
openalex   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Compassionate Use of Avacopan in Difficult-to-Treat Antineutrophil Cytoplasmic Antibody–Associated Vasculitis

open access: yesKidney International Reports, 2022
Jolijn R. van Leeuwen   +11 more
doaj  

The Treponema pallidum Complement-Fixation Test

open access: green, 1956
Harold J. Magnuson, Joseph Portnoy
openalex   +1 more source

Is Uber a substitute or complement for public transit?

open access: yesJournal of Urban Economics, 2018
Jonathan D. Hall   +2 more
semanticscholar   +1 more source

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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