Results 131 to 140 of about 109,563 (301)
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
'Entitled to a History': The World of Alice Tawhai's Short Stories and the Maori Literary Tradition
, 2014 New Zealand short story writer Alice Tawhai is one of the latest additions to the Maori literary tradition. Her three collections of short stories, Festival of Miracles, Luminous and Dark Jelly, deal with issues not entirely unique to New Zealand – from ...
Modlik, Kimberley
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Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli +5 more
wiley +1 more source
The Modality of the Textual Institutionalisation of Literary Studies: Towards a Sociology of Literature [PDF]
This paper aims to present a sociology of literary studies that is distinguished from the sociology of literature in that its focus is on literary studies as a social practice rather than as a socio-cultural institution: how literary studies is ...
Soh-young Chung
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane +43 more
wiley +1 more source
, 2009 Includes abstract.Includes bibliographical references (leaves 79-86).This dissertation utilises certain aspects of the philosophy of Ludwig Wittgenstein to explore W.G. Sebald's representation of history in his novel Austerlitz (2001).
Germeshuys, Carlo
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Literary Didactics and Literary History
Hankuk University of Foreign Studies Literature Studies, 2022 openaire +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source