Results 271 to 280 of about 11,892,944 (395)

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

Training Wild Animals for Moving Pictures [PDF]

open access: green, 1914
Robert H. Moulton
openalex   +1 more source

Training and pandemic

open access: yesRevista Española de Cirugía Ortopédica y Traumatología (English Edition), 2021
openaire   +4 more sources

The burden of intracranial atherosclerosis on cerebral small vessel disease: A community cohort study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Exploring the prevalence and association between intracranial atherosclerosis (ICAS) and cerebral small vessel diseases (CSVD), this study delved beyond the current scope, utilising high‐resolution vessel wall MRI (HRVW‐MRI) to investigate how subtle changes in intracranial atherosclerotic features influence the various burdens of ...
Joseph Amihere Ackah   +6 more
wiley   +1 more source

Workshop Report: INCF Short Course on Neuroinformatics, Neurogenomics and Brain Disease, 14–21 September 2013

open access: yesFrontiers in Neuroscience, 2015
J Alexander Heimel   +2 more
doaj   +1 more source

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