Results 271 to 280 of about 10,595,923 (382)

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. [PDF]

open access: yesHum Mutat, 2018
Kumar R   +31 more
europepmc   +1 more source

Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

open access: yesHuman Molecular Genetics, 2010
J. Demars   +11 more
semanticscholar   +1 more source

Evaluation of the Efficacy and Safety of Satralizumab in a Pregnant NMOSD Patient With AQP4/MOG‐IgG Dual Seropositive: A Case Report

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley   +1 more source

Long-term safety and effectiveness of growth hormone therapy in Korean children with growth disorders: 5-year results of LG Growth Study. [PDF]

open access: yesPLoS One, 2019
Rhie YJ   +9 more
europepmc   +1 more source

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

open access: yesHuman Molecular Genetics, 2009
S. Azzi   +11 more
semanticscholar   +1 more source

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin   +11 more
wiley   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

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