Results 141 to 150 of about 1,367,735 (322)
THE TRANSFUSION OF WHOLE BLOOD: A SUGGESTION FOR ITS MORE FREQUENT EMPLOYMENT IN WAR SURGERY [PDF]
, 1916 Leeah Robertson
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Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng +6 more
wiley +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
Annals 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
OBSERVATIONS ON THE PHAGOCYTOSIS OF THE PNEUMOCOCCUS BY HUMAN WHOLE BLOOD [PDF]
, 1930 Hugh K. Ward
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Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy
Annals 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
The Comparative Bactericidal Action of Normal Serum, “Whole” Blood and Serum-Leucocyte Mixtures; with Further Observations on the Bactericidal Mechanism of Normal Serum [PDF]
, 1932 T. J. Mackie +2 more
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Dual‐Phase C‐11 PiB PET Images for Detecting Tau Pathology in Cerebral Amyloid Angiopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Cerebral amyloid angiopathy (CAA) is a major cause of lobar intracerebral hemorrhage and cognitive dysfunction in the elderly, and frequently coexists with Alzheimer's disease and tau pathology. Dual‐phase 11C‐PiB PET detects amyloid deposition and cerebral perfusion changes and may have diagnostic value for identifying tau in CAA ...
Meng‐Ting Chiang +4 more
wiley +1 more source