Results 191 to 200 of about 1,575,835 (313)

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

Modeling Joint and Marginal Distributions in the Analysis of Categorical Panel Data [PDF]

open access: green, 2001
Jeroen K. Vermunt   +2 more
openalex   +1 more source

NMDAR‐Antibody Encephalitis Diagnosed With Primary Central Nervous System Lymphoma: A Case Series

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT N‐methyl‐D‐aspartate receptor‐antibody encephalitis (NMDAR encephalitis) is one of the most common forms of autoimmune encephalitis, with a paraneoplastic relationship described in approximately 38%. Primary central nervous system lymphoma (PCNSL) is a rare hematologic malignancy that is not often considered as the underlying neoplasm in this ...
Soo Hyun Ahn   +4 more
wiley   +1 more source

Combining Panel Data Sets with Attrition and Refreshment Samples [PDF]

open access: green, 2001
Keisuke Hirano   +3 more
openalex   +1 more source

Influence of Dystrophin Isoform Deficiency on Motor Development in Duchenne Muscular Dystrophy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In Duchenne muscular dystrophy (DMD), lack of the shorter dystrophin isoforms Dp140 and Dp71 is associated with increased central nervous system (CNS) involvement. We aimed to investigate how CNS involvement affects motor development in young DMD boys.
Mary Chesshyre   +152 more
wiley   +1 more source

Pre-COVID era pediatric disease incidence in Kazakhstan: regional panel data analysis of multiple disease groups (2010-2019). [PDF]

open access: yesFront Public Health
Smagulov N   +6 more
europepmc   +1 more source

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