Results 151 to 160 of about 414,063 (320)

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

open access: yesAnnals 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

An X-ray study of the magnesium borides [PDF]

open access: bronze, 1953
V. Russell   +3 more
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra   +17 more
wiley   +1 more source

Music Interventions in Hyperacute and Acute Stroke Patients: A Randomized Controlled Pilot Feasibility Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Music interventions have been shown to have beneficial effects on hemodynamic parameters, pain, and anxiety in various medical settings. However, music interventions in the setting of acute stroke have not been studied. The objective of this trial was to perform a pilot feasibility study of music interventions in the setting of acute
Jeffrey J. Fletcher   +7 more
wiley   +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

Combination Therapy With Vigabatrin and Prednisolone Versus Vigabatrin Alone for Infantile Spasms

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The study evaluated the effectiveness of combination therapy with vigabatrin and prednisolone versus vigabatrin alone for treating infantile epileptic spasms syndrome (IESS). Methods This single‐center, single‐blind, randomized trial enrolled infants aged 2–14 months with new‐onset IESS, randomly assigned them (1:1) to receive either
Rachata Boonkrongsak   +6 more
wiley   +1 more source

Creep properties and fracture behavior of AZ31B extruded sheets with mixed-grain microstructures of different morphologies

open access: yesJournal of Magnesium and Alloys
In this work, AZ31B extruded sheets with mixed-grain microstructures were prepared through extrusion. Samples of mixed-grain microstructure with different morphologies were selected from the AZ31B extruded sheets (referred to as M1 and M2 samples ...
Xiaoxia Zhang   +8 more
doaj  

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