Results 21 to 30 of about 23,145 (245)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Discovery and Targeted Proteomic Studies Reveal Striatal Markers Validated for Huntington's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Clinical trials for Huntington's disease (HD) enrolling persons before clinical motor diagnosis (CMD) lack validated biomarkers. This study aimed to conduct an unbiased discovery analysis and a targeted examination of proteomic biomarkers scrutinized by clinical validation. Methods Cerebrospinal fluid was obtained from PREDICT‐HD and
Daniel Chelsky, Cara Joyce, H. Jeremy Bockholt, Paul A. Rudnick, William H. Adams, Fiona McAllister, Justin W. Smock, Michael A. Newton, Jane S. Paulsen   +8 more
wiley   +1 more source

Comparative Epidemiological Studies on Gallbladder Cancer between Chile and Japan

Estudios Atacameños, 1998
Se ha realizado un estudio del cáncer vesicular entre 1991 y 1998 en Chile. Presentamos los principales hallazgos encontrados en esta investigación y se comparan con los datos equivalentes de Japón. 1) Hemos examinado el índice de mortalidad del cáncer
Masaharu Yamamoto, Iván Serra, A. Calvo, H. Watanabe, K. Endoh, N. Shibuya, K. Nakamura   +6 more
doaj   +1 more source

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Disrupted neurofluid regulation may contribute to neurodegeneration in Huntington disease (HD). Because neurofluid pathways influence waste clearance, inflammation, and the distribution of central nervous system (CNS)–delivered therapeutics, understanding their dysfunction is increasingly important as targeted treatments emerge.
Kilian Hett, Abigail Dubois, Melanie Leguizamon, Alexander Song, Paula Trujillo, Colin D. McKnight, Ciaran M. Considine, Manus J. Donahue, Daniel O. Claassen   +8 more
wiley   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Leitfaden zum User-Testing des VR-Spiels "Navigation der Südsee" am 19.09.2019

, 2021
Dieses Arbeitspapier ist Teil der Online-Publikation von Dietmar Fuhrmann, Cristina Navarro und Josefine Otte "Mit der Zielgruppe testen! Wie Kinder im Museum mitgestalten. Eine Studie im Teilprojekt Visitor Journeys neu gedacht im Verbundprojekt museum4punkt0", entstanden im Verbundprojekt museum4punkt0 – Digitale Strategien für das Museum der Zukunft,
openaire   +1 more source

The temporal trends and short‐ and long‐term mortality of people with acute myocardial infarction and rheumatoid arthritis: a nationwide cohort study

Arthritis Care &Research, Accepted Article.
Aims We investigated whether a diagnosis of rheumatoid arthritis (RA) affects the quality of inpatient acute myocardial infarction (AMI) care and long‐term mortality post‐AMI. Methods We analysed data from 784,091 adults, 6,047 with a diagnosis of RA, from England and Wales hospitalised with AMI between 2005 and 2019 from the MINAP registry, linked ...
Megan Butler, Nicholas Weight, Muhammad Rashid, Rodrigo Bagur, Purvi Parwani, Samantha Hider, Edward Roddy, Robert Butler, Mamas A Mamas   +8 more
wiley   +1 more source

Trace Nickel Activated Biphasic Core‐CuOii/Shell‐CuOi Secondary Microspheres Enable Room Temperature Parts‐Per‐Trillion‐Level NO2 Detection

Advanced Engineering Materials, EarlyView.
An idea of designing novel sensors is proposed by creating appropriate Schottky barriers and vacancies between isomorphous Core‐CuOii/ Shell‐CuOi secondary microspheres and enhancing catalytic and spill‐over effects, and electronegativity via spontaneous biphasic separation, self‐assembly, and trace‐Ni‐doping.
Bala Ismail Adamu, Peipei Chen, Shafia Mukhtar Ibrahim, Mukhtar Lawan Adam, Attia Falak, Mokhotjwa Simon Dhlamini, Hanfu Wang, Lingxiang Jiang, Weiguo Chu   +8 more
wiley   +1 more source

Evaluación ecotóxica y genotóxica de aguas residuales hospitalarias Ecotoxicological and genotoxic evaluation of hospital wastewaters

Acta Toxicológica Argentina, 2012
Los líquidos residuales provenientes de hospitales constituyen un riesgo potencial para los ecosistemas y la salud humana debido a la presencia de compuestos tóxicos y genotóxicos.
Anahí Magdaleno, Ángela B Juárez, Marta Paz, Carina Tornello, Lidia Núñez, Juan Moretton   +5 more
doaj  

Fallzahlkorrektur bei Powerverlust durch Imbalancen der Blockrandomisation am Beispiel des t-Tests

, 2017
62. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS)
Muche, R, Rohlmann, F, Dreyhaupt, J
openaire   +2 more sources