Results 171 to 180 of about 2,550,559 (379)

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

Diagnostic Challenge in Frontal Variant Alzheimer's Disease With Low Amyloid‐β PET Retention

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Diagnosing frontal variant Alzheimer's disease (fvAD) is difficult and could be even more difficult when amyloid‐beta (Aβ) PET retention is low. A 63‐year‐old woman presenting with a 3‐year history of apathy and memory impairment showed executive dysfunction, memory impairment, and severe bilateral frontotemporal atrophy on MRI.
Ryosuke Shimasaki   +5 more
wiley   +1 more source

Pre-test session impact on the effectiveness assessment of a fire safety game [PDF]

open access: yes, 2015
In recent years, critiques have been formulated regarding current evaluation methods of DGBL (digital game-based learning) effectiveness, putting the validity of certain results in doubt.
All, Anissa   +3 more
core  

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

Discontinuation of Immunotherapy in Patients With Relapsing Myelitis Without AQP4/MOG Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study assesses the outcomes of immunotherapy discontinuation in patients with relapsing seronegative idiopathic myelitis (SIM), a condition that remains uninvestigated due to its rarity. We reviewed records from 77 patients with relapsing SIM at the National Cancer Center of Korea, focusing on 11 who discontinued treatment after a median ...
Ki Hoon Kim   +4 more
wiley   +1 more source

Hospital Administration [PDF]

open access: bronze, 1946
Johanes O’Reilly   +2 more
openalex   +1 more source

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