Results 91 to 100 of about 1,217,603 (290)

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

open access: yesAnnals 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

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling   +16 more
wiley   +1 more source

Does equal access mean treat the same? From theory to practice in the classroom of the English as an Additional Language learner in Ireland - towards a transformative agenda. [PDF]

open access: yes, 2013
While a substantial body of research exists on First and Second Language Acquisition (SLA), research on the language acquisition process that a language minority student goes through when they are acquiring a second language in an environment where both ...
Kelly, Niamh
core   +1 more source

The role of mental translation in learning and using a second/foreign language by female adult learners

open access: yesJournal of Global Education and Research, 2018
The purpose of this study is to ponder some theoretical considerations concerning a predominant phenomenon of mental translation (MT) observed by second language teachers and learners in learning and using a second/foreign language.
Julia Falla-Wood
doaj   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao   +7 more
wiley   +1 more source

Processing Instruction and Second Language Grammar Acquisition

open access: yesStudies in Applied Linguistics & TESOL, 2008
The significance of input, namely meaning-bearing linguistic instances of the target language (TL) (VanPatten, 1996), in accounting for how learners create second language (L2) grammars has long been established (Gass, 1997). Krashen (1985), in his Input
Adrienne Wai Man Lew
doaj   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

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