Results 181 to 190 of about 716,794 (260)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +1 more source

Identification of sequence polymorphism in the D-loop region of mitochondrial DNA as a risk factor for breast cancer. [PDF]

open access: yesCancer Sci
Nie Q   +22 more
europepmc   +1 more source

Floyd D. Loop, MD (1936-2015) [PDF]

open access: yesRevista chilena de cardiología, 2015
openaire   +2 more sources

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers   +19 more
wiley   +1 more source

The open to closed D-loop conformational switch determines length in filopodia-like actin bundles. [PDF]

open access: yesBiochem J
Gadsby JR   +8 more
europepmc   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

Diagnostic Use of Testing for Novel Murine Autoantibodies for Sjögren Disease in the Rheumatology Outpatient Setting

open access: yesArthritis Care &Research, EarlyView.
Objective The goal was to assess the diagnostic performance of three novel autoantibodies (NA) for Sjögren disease (SjD) by comparing NA prevalence in patients with SjD, other autoimmune rheumatic diseases (ARDs), nonspecific chronic sialadenitis (CS), and controls.
Chadwick R. Johr   +5 more
wiley   +1 more source

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