Results 181 to 190 of about 505,963 (341)

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

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

Visualising individual green fluorescent proteins with a near field optical microscope

open access: bronze, 1999
M.F. Garcia Parajo   +5 more
openalex   +1 more source

Phase 1, First‐In‐Human, Single‐/Multiple‐Ascending Dose Study of Iluzanebart in Healthy Volunteers

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics of iluzanebart, a fully human monoclonal antibody TREM2 (triggering receptor expressed on myeloid cells 2) agonist, after single‐ (SAD) and multiple‐ascending‐dose (MAD) administration.
Andreas Meier   +8 more
wiley   +1 more source

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