Results 271 to 280 of about 32,528,266 (371)

Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Rett syndrome (RTT) is a devastating neurodevelopmental disorder with developmental regression affecting motor, sensory, and cognitive functions. Sensory disruptions contribute to the complex behavioral and cognitive difficulties and represent an important target for therapeutic interventions.
Alex Joseph Simon   +12 more
wiley   +1 more source

Real‐World Investigation of Satralizumab in Patients With Neuromyelitis Optica Spectrum Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Satralizumab, a monoclonal antibody targeting the interleukin‐6 receptor, has demonstrated efficacy in clinical trials for neuromyelitis optica spectrum disorder (NMOSD). However, its real‐world effectiveness and safety compared to conventional immunosuppressive therapies remain uncertain.
Li‐Tsung Lin   +2 more
wiley   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte   +13 more
wiley   +1 more source

Harnessing non-Watson-Crick's base pairing to enhance CRISPR effectors cleavage activities and enable gene editing in mammalian cells. [PDF]

open access: yesProc Natl Acad Sci U S A
Gao S   +11 more
europepmc   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew   +11 more
wiley   +1 more source

Does base-pairing strength play a role in microRNA repression?

open access: yesRNA: A publication of the RNA Society, 2012
I. Carmel, N. Shomron, Y. Heifetz
semanticscholar   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz   +3 more
wiley   +1 more source

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