Results 111 to 120 of about 8,447,095 (299)

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Characterizing Cutaneous α‐Synuclein Deposition and Seeding Activity in Parkinson's Disease Subtypes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cutaneous phosphorylated α‐synuclein (p‐syn) and α‐synuclein seeding activity are promising biomarkers for Parkinson's disease (PD), but their clinical value remains uncertain due to disease heterogeneity. This study evaluates these two biomarkers in PD patients to inform phenotype‐specific diagnosis and disease severity assessment ...
Yuting Jin, Tianyuan Yang, Minglei Liu, Haiyang Luo, Jing Yuan, Ke Zhang, Xinsheng Han, Jing Yang, Yuming Xu   +8 more
wiley   +1 more source

Temporal Interference Stimulation of Centromedian‐Parafascicular Complex in Disorders of Consciousness: A Pilot Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Treatment of disorders of consciousness (DoC) remains a major clinical challenge, and noninvasive, targeted modulation of deep brain structures has emerged as a promising therapeutic strategy. We aimed to evaluate the feasibility/safety and preliminary effects of thalamic temporal interference stimulation (TIS) targeting centromedian‐
Gengyao Hu, Changgeng Song, Dianwei Wu, Xiaoqian Niu, Jianmin Hao, Lijuan Liu, Xiaogang Kang, Wen Jiang   +7 more
wiley   +1 more source

Comparison of cell-mediated immunity due to Leishmania infantum promastigotes and axenic amastigotes

Vaccine Research, 2018
Introduction: Leishmania infantum is the causative agent of visceral leishmaniasis (VL). Cell-mediated immunity (CMI) is required to control leishmaniases. Therefore, simple tests that can evaluate the cellular immunity of the target populations can help
A Najafi-Dastanaei, S Ajdary, V Khaze, H Darabi, MH Alimohammadian   +4 more
doaj  

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

Cracking the Code: Which Ocular Symptoms Predict Dry Eye Signs? Insights From a Large International Sicca Registry

Arthritis Care &Research, EarlyView.
Objective The study aimed to identify symptom‐based predictors of dry eye disease (DED) signs in the Sjögren's International Collaborative Clinical Alliance (SICCA) cohort. Methods We performed a retrospective analysis examining 16 ocular symptoms (most graded 0–4) and artificial tear (AT) use (graded 0–3) as predictors of DED signs (abnormal ocular ...
Pragnya R. Donthineni, Chloe Shields, Rohit Muralidhar, Shreya Bhatt, Alan Baer, Robert Fox, Sara S. McCoy, Anat Galor   +7 more
wiley   +1 more source

Hypersensitivity to glucagon‐like peptide‐1 receptor agonists: A case of delayed urticaria‐like rash to dulaglutide and literature review

JEADV Clinical Practice
Dulaglutide is a glucagon‐like peptide‐1 (GLP‐1) receptor agonist, which stimulates insulin release via activation of GLP‐1 receptors on pancreatic beta cells.
Leonardo Bianchi, Samane Ali Biglu Marash, Nicolò Malatesta, Katharina Hansel, Marta Tramontana, Luca Stingeni   +5 more
doaj   +1 more source