Results 261 to 270 of about 1,292,732 (363)

Young Views on Inclusive Education [PDF]

open access: green, 2011
European Agency for Special Needs and Inclusive Education
openalex   +1 more source

Cis‐unsaturated sphingolipids support growth of sphingoid base‐deficient yeast but impair plasma membrane integrity

open access: yesFEBS Open Bio, EarlyView.
Sphingoid base structures, the sphingolipid backbones, vary among species. We established yeast cells in which the native sphingoid base was replaced with plant‐type bases containing cis or trans double bonds. This is, to our knowledge, the first eukaryotic model mostly composed of sphingolipids containing cis‐unsaturated sphingoid base, providing a ...
Takashi Higuchi   +5 more
wiley   +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

Relevance of Kappa and Lambda Free Light Chains in Autoimmune Astrocytopathy Associated With Anti‐GFAP Antibodies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction The kappa‐free light chain (κ‐FLC) index is known to be highly sensitive and specific for diagnosing multiple sclerosis (MS), while little is understood about lambda (λ)‐FLC. This study assessed the κ‐FLC and λ‐FLC indices in autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy.
Michael Levraut   +11 more
wiley   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach   +11 more
wiley   +1 more source

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