Results 141 to 150 of about 2,843,245 (304)

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

open access: yesAging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang   +3 more
wiley   +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

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

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi   +2 more
wiley   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung   +7 more
wiley   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle   +11 more
wiley   +1 more source

Extending the acute skin response spectrum to include the far-UVC. [PDF]

open access: yesPhotochem Photobiol
Gutierrez-Bayona NE   +8 more
europepmc   +1 more source

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa   +10 more
wiley   +1 more source

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