Results 161 to 170 of about 1,895,431 (338)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero   +15 more
wiley   +1 more source

Serotonergic and Dopaminergic Function in Neuropsychiatrically Asymptomatic People With HIV on Antiretroviral Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective People with HIV (PWH) on antiretroviral therapy (ART) still experience neurocognitive dysfunction and accelerated brain volume loss. To assess whether the serotonergic and dopaminergic systems are affected, we used [11C]DASB positron emission tomography (PET) to assess presynaptic serotonergic function and [18F]FDOPA PET to measure ...
Chuen‐Yen Lau   +12 more
wiley   +1 more source

Brain Characteristics in Patients With Myelin Oligodendrocyte Glycoprotein Antibody‐Associated Disorder by 7.0 Tesla MRI

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su   +19 more
wiley   +1 more source

IV.—INTUITION AND INFERENCE [PDF]

open access: green, 1878
Daniel Greenleaf Thomson
openalex   +1 more source

Pulse Pressure, White Matter Hyperintensities, and Cognition: Mediating Effects Across the Adult Lifespan

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate whether pulse pressure or mean arterial pressure mediates the relationship between age and white matter hyperintensity load and to examine the mediating effect of white matter hyperintensities on cognition. Methods Demographic information, blood pressure, current medication lists, and Montreal Cognitive Assessment ...
Jade Hannan   +8 more
wiley   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte   +13 more
wiley   +1 more source

Effects of Pharmacologic and Nonpharmacologic Interventions for the Management of Sleep Problems in People With Fibromyalgia: Systematic Review and Network Meta‐Analysis of Randomized Controlled Trials

open access: yesArthritis Care &Research, EarlyView.
Objective Fibromyalgia is a chronic condition characterized by widespread musculoskeletal pain and fatigue. Almost everyone with fibromyalgia has sleep problems. We aimed to evaluate the effectiveness and safety of current interventions for the management of fibromyalgia‐related sleep problems.
Jemma Hudson   +11 more
wiley   +1 more source

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