Results 191 to 200 of about 207,140 (324)

Trametinib in Adults with Neurofibromatosis Type 1‐Related Symptomatic Plexiform Neurofibromas

open access: yesAnnals of Neurology, EarlyView.
Objective Mitogen‐activated protein kinase kinase inhibitors have shown promising results in treatment of plexiform neurofibromas in neurofibromatosis type 1 patients, but data in adults are limited. The aim of this phase 2 study was to investigate the efficacy and safety of trametinib in adults with neurofibromatosis type 1.
D. Christine Noordhoek   +7 more
wiley   +1 more source

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

open access: yesAnnals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji   +10 more
wiley   +1 more source

Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia

open access: yesAnnals of Neurology, EarlyView.
SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a genotype‐first approach, we identified homozygous truncating variants (c.281G>A‐β3W94*, c.584 + 1G>A ...
Nathan Routledge   +11 more
wiley   +1 more source

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

open access: yesAnnals of Neurology, EarlyView.
Objective Gluten‐related autoimmunity can cause neurological disease, although the best way to diagnose and monitor such patients is unclear. Serological testing for antibodies against transglutaminase 6 (TG6) has been proposed; however, this is not widely available in clinical practice.
Iain D. Croall   +6 more
wiley   +1 more source

Happy 75th National Institute of Neurological Disorders and Stroke

open access: yesAnnals of Neurology, EarlyView.
For 75 years the National Institute of Neurological Disorders and Stroke has led neurological research in the US. Many thousands of people have volunteered in research and thousands of investigators devoted their careers to pursuing better treatments of neurological disorders.
Walter J. Koroshetz
wiley   +1 more source

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