Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Matias W"'
Clinical heterogeneity within the ALS‐FTD spectrum in a family with a homozygous optineurin mutation
Autor:
Tandis Parvizi, Sigrid Klotz, Omar Keritam, Haluk Caliskan, Sophie Imhof, Theresa König, Lukas Haider, Tatjana Traub‐Weidinger, Matias Wagner, Theresa Brunet, Melanie Brugger, Alexander Zimprich, Jakob Rath, Elisabeth Stögmann, Ellen Gelpi, Hakan Cetin
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1579-1589 (2024)
Abstract Objective Mutations in the gene encoding for optineurin (OPTN) have been reported in the context of different neurodegenerative diseases including the amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum. Based on s
Externí odkaz:
https://doaj.org/article/3c6d0f0f683f471fbf37374686e34d4b
Autor:
Jordan Hernandez-Martinez, Izham Cid-Calfucura, Constanza Chiguay, Matias Weinberger, Pedro Delgado-Floody, Cristopher Muñoz-Vásquez, Juan Aristegui-Mondaca, Álvaro Levín-Catrilao, Tomas Herrera-Valenzuela, Braulio Henrique Magnani Branco, Pablo Valdés-Badilla
Publikováno v:
Experimental Gerontology, Vol 196, Iss , Pp 112553- (2024)
Objectives: This systematic review with meta-analysis aimed to evaluate the effects of elastic band training (EBT) on body composition and physical performance in apparently healthy older people. Methods: A systematic literature search was conducted
Externí odkaz:
https://doaj.org/article/411d08f0ca9e40c6bc186e5c062de2d3
Akademický článek
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Autor:
Matias, W., Oñate, Eugenio
Publikováno v:
Scipedia Open Access
Scipedia SL
Scipedia SL
Se presenta la descripción Lagrangiana Generalizada para el análisis estático de sólidos con no linealidad geométrica. Se describen las relaciones incrementales básicas de la cinemática, de la estática y del modelo constitutivo. Se obtiene la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b661a1b3cf904b21ff1ed08fb9332514
https://www.scipedia.com/public/Matias_Onate_2019a
https://www.scipedia.com/public/Matias_Onate_2019a
Autor:
Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger-Sieczkowski, Stella Goeschl, Christoph Hotzy, Matias Wagner, Riccardo Berutti, Esther Sammler, Elisabeth Stögmann, Alexander Zimprich
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-5 (2023)
Externí odkaz:
https://doaj.org/article/ef70d299ec0b4e29ba380426d3fc086b
Autor:
Sara Silvaieh, Theresa König, Raphael Wurm, Tandis Parvizi, Evelyn Berger-Sieczkowski, Stella Goeschl, Christoph Hotzy, Matias Wagner, Riccardo Berutti, Esther Sammler, Elisabeth Stögmann, Alexander Zimprich
Publikováno v:
Human Genomics, Vol 17, Iss 1, Pp 1-15 (2023)
Abstract Early-onset dementia (EOD), with symptom onset before age 65, has a strong genetic burden. Due to genetic and clinical overlaps between different types of dementia, whole-exome sequencing (WES) has emerged as an appropriate screening method
Externí odkaz:
https://doaj.org/article/76666448bcd54393948ec0c31d2656c0
Akademický článek
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Autor:
Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Jorge L. Granadillo, Amanda V. Tyndall, Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore, Marsha Wheeler, Jessica X. Chong, Michael J. Bamshad, A. Micheil Innes, Tyler Mark Pierson, Joel P. Mackay, Stephanie L. Bielas, Donna M. Martin
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100198- (2023)
Summary: GATA zinc finger domain containing 2A (GATAD2A) is a subunit of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD is known to regulate gene expression during neural development and other processes. The NuRD complex modulates chr
Externí odkaz:
https://doaj.org/article/55ebaaa929534eec94b83543adbc336f
Autor:
Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecilia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
Publikováno v:
PLoS Genetics, Vol 19, Iss 6, p e1010796 (2023)
Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their assembly depends entirely on proteins synthesized in the cell body and transported into th
Externí odkaz:
https://doaj.org/article/e3c33751139d4a74a9903b2f1e069797
Autor:
Vicente A. Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D. Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F. Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)
Abstract Background Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studi
Externí odkaz:
https://doaj.org/article/c84ca93f6ba94f7fa60fa360f03b6d83