Results 151 to 160 of about 363,435 (310)

Persisting Transglutaminase 6 Antibodies in Neurological Gluten‐Related Disorders

Annals 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, Marios Hadjivassiliou, David S. Sanders, Kevin Teh, Alberto M. Biancardi, Nick Trott, Nigel Hoggard   +6 more
wiley   +1 more source

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

Annals 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, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

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

Annals 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, Caroline Nelson, Ivan Ayala, Elena Barbieri, Rudolph Castellani, Changiz Geula, Tamar Gefen, M. Marsel Mesulam   +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

Annals 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, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

Probabilistic Lesion Mapping to Optimize Thalamotomy Targets for Focal Hand Dystonia

Annals 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, Shiro Horisawa, Konstantin Butenko, Hiroki Togo, Arun Garimella, William Drew, Melissa Chua, Esraa Shaban, Takakazu Kawamata, Takaomi Taira, Andreas Horn, Michael D. Fox, Takashi Hanakawa   +12 more
wiley   +1 more source

Left ventricular diastolic dysfunction in chronic kidney disease and anaesthesia implications. [PDF]

World J Nephrol
Kapoor H, Kapoor D.
europepmc   +1 more source

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

The 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, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source

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

J Arrhythm
Chiba T, Kajiyama T, Kondo Y, Takaoka H, Suzuki-Eguchi N, Nakano M, Nakano M, Ryuzaki S, Takanashi Y, Komai Y, Nishikawa Y, Kobayashi Y.   +11 more
europepmc   +1 more source

Cytokine pathways driving diverse tissue pathologies in rheumatoid arthritis

Arthritis &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, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Telomere Length of Peripheral Blood Leukocytes Predicts Disease Severity and Worse Survival in Systemic Sclerosis

Arthritis &Rheumatology, EarlyView.
Objective Peripheral blood leukocyte telomere length (PBL‐TL) shortening is associated with systemic sclerosis–related interstitial lung disease (SSc‐ILD). However, its association with other organ involvement, disease severity, and survival remains unclear.
Monica M. Yang, Shuo Liu, Michael Wax II, Seoyeon Lee, Sarah French, Paul J. Wolters, Francesco Boin   +6 more
wiley   +1 more source