Zobrazeno 1 - 10
of 13 768
pro vyhledávání: '"Leonard, H"'
Autor:
Astrid T. van der Geest, Channa E. Jakobs, Tijana Ljubikj, Christiaan F. M. Huffels, Marta Cañizares Luna, Renata Vieira de Sá, Youri Adolfs, Marina de Wit, Daan H. Rutten, Marthe Kaal, Maria M. Zwartkruis, Mireia Carcolé, Ewout J. N. Groen, Elly M. Hol, Onur Basak, Adrian M. Isaacs, Henk-Jan Westeneng, Leonard H. van den Berg, Jan H. Veldink, Domino K. Schlegel, R. Jeroen Pasterkamp
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-31 (2024)
Abstract A hexanucleotide repeat expansion (HRE) in C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Human brain imaging and experimental studies indicate early changes in brain struct
Externí odkaz:
https://doaj.org/article/081ca424a8b945aa9f02a6c9589c4317
Autor:
Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, R. Jeroen Pasterkamp
Publikováno v:
Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-32 (2024)
Abstract Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to motor neuron loss. Currently mutations in > 40 genes have been linked to ALS, but the contribution of many genes and genetic mutations to the ALS path
Externí odkaz:
https://doaj.org/article/4a977d03dfcc4c5eacc3e8ab78fc3e99
Autor:
Renata Vieira de Sá, Emma Sudria-Lopez, Marta Cañizares Luna, Oliver Harschnitz, Dianne M. A. van den Heuvel, Sandra Kling, Danielle Vonk, Henk-Jan Westeneng, Henk Karst, Lauri Bloemenkamp, Suzy Varderidou-Minasian, Domino K. Schlegel, Mayte Mars, Mark H. Broekhoven, Nicky C. H. van Kronenburg, Youri Adolfs, Vamshidhar R. Vangoor, Rianne de Jongh, Tijana Ljubikj, Lianne Peeters, Sabine Seeler, Enric Mocholi, Onur Basak, David Gordon, Fabrizio Giuliani, Tessa Verhoeff, Giel Korsten, Teresa Calafat Pla, Morten T. Venø, Jørgen Kjems, Kevin Talbot, Michael A. van Es, Jan H. Veldink, Leonard H. van den Berg, Pavol Zelina, R. Jeroen Pasterkamp
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-25 (2024)
Abstract Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are the strongest genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, wh
Externí odkaz:
https://doaj.org/article/f542924285bc411ab2ef82b8bba3d188
Mutations in the tail and rod domains of the neurofilament heavy‐chain gene increase the risk of ALS
Autor:
Heather Marriott, Thomas P. Spargo, Ahmad Al Khleifat, Peter M Andersen, Nazli A. Başak, Johnathan Cooper‐Knock, Philippe Corcia, Philippe Couratier, Mamede deCarvalho, Vivian Drory, Marc Gotkine, John E. Landers, Russell McLaughlin, Jesús S. Mora Pardina, Karen E. Morrison, Susana Pinto, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, Nicola Ticozzi, Philip vanDamme, Leonard H. van denBerg, Patrick Vourc'h, Markus Weber, Jan H. Veldink, Project MinE ALS Sequencing Consortium, Richard J. Dobson, Patrick Schwab, Ammar Al‐Chalabi, Alfredo Iacoangeli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 7, Pp 1775-1786 (2024)
Abstract Objective Neurofilament heavy‐chain gene (NEFH) variants are associated with multiple neurodegenerative diseases, however, their relationship with ALS has not been robustly explored. Still, NEFH is commonly included in genetic screening pa
Externí odkaz:
https://doaj.org/article/3bcb8a1d9b3c4724a5b304747dd4abc5
Autor:
Malene Skuseth Slinning, Thaddaeus Mutugi Nthiga, Christiane Eichner, Syeda Khadija, Leonard H. Rome, Frank Nilsen, Michael Dondrup
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Major vault protein (MVP) is the main component of the vault complex, which is a highly conserved ribonucleoprotein complex found in most eukaryotic organisms. MVP or vaults have previously been found to be overexpressed in multidrug-resista
Externí odkaz:
https://doaj.org/article/a425f1a3b79249b39aaf16d930031043
Autor:
Juliana Goldsmith, Mackenzie J. Ferrante, Sara Tauriello, Leonard H. Epstein, Lucia A. Leone, Stephanie Anzman-Frasca
Publikováno v:
Frontiers in Nutrition, Vol 11 (2024)
PurposeEmerging research highlights impacts of the COVID-19 pandemic on U.S. families, including changes in eating behavior and increased child body mass index. Aims of the present study were to examine whether child temperament and at-home vs. out-o
Externí odkaz:
https://doaj.org/article/7c252efdbc5940679d8183e69d75bbbc