Results 161 to 170 of about 365,117 (308)

Novel Echocardiographic Index for Risk Stratification of Ventricular Arrhythmias and Mortality Based on Right Ventricular Function. [PDF]

open access: yesJ Arrhythm
Chiba T   +11 more
europepmc   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell   +3 more
wiley   +1 more source

Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11

open access: yesAnnals of Neurology, EarlyView.
Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles   +7 more
wiley   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

open access: yesAnnals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang   +7 more
wiley   +1 more source

Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia

open access: yesAnnals of Neurology, EarlyView.
Objective Focal hand dystonia (FHD) severely impairs task‐specific motor control, yet the optimal surgical target for stereotactic intervention remains uncertain. This study aimed to identify the precise thalamic lesion site associated with symptomatic improvement and to clarify its network connectivity. Methods We retrospectively analyzed 164 patients
Masahiko Nishitani   +12 more
wiley   +1 more source

Left ventricular dysfunction in the newborn

open access: yesTranslational Pediatrics, 2023
Menahem, Samuel, Sehgal, Arvind
openaire   +2 more sources

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

open access: yesThe Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira   +3 more
wiley   +1 more source

Cytokine pathways driving diverse tissue pathologies in rheumatoid arthritis

open access: yesArthritis &Rheumatology, Accepted Article.
Rheumatoid arthritis is a complex systemic disorder characterised primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease e.g. of the lung with potentially devastating clinical consequences.
Aurelie Najm   +2 more
wiley   +1 more source

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