Výsledky vyhledávání - "trinucleotide repeat expansions"

Akademický článek

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy

Autor: Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim

Publikováno v: Journal of Movement Disorders, Vol 3, Iss 2, Pp 45-47 (2010)

Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades. It is caused by an unstable cytosine-adenine-guanine (CAG) trinuc

Externí odkaz: https://doaj.org/article/03b616f7b8464641a505ba6f4158b810

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ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Autor: Tazelaar, Gijs, Boeynaems, Steven, De Decker, Mathias, van Vugt, Joke, Kool, Lindy, Goedee, H Stephan, Mclaughlin, Russell, Sproviero, William, Iacoangeli, Alfredo, Moisse, Matthieu, Jacquemyn, Maarten, Daelemans, Dirk, Dekker, Annelot, van der Spek, Rick, Westeneng, Henk-Jan, Kenna, Kevin, Assialioui, Abdelilah, Da Silva, Nica, Millecamps, Stéphanie, Akçimen, Fulya, Al Khleifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A Nazli, Bauer, Denis, Blair, Ian, Brands, William, Byrne, Ross, Calvo, Andrea, Gonzalez, Yolanda Campos, Chio, Adriano, Cooper-Knock, Jonothan, Corcia, Philippe, Couratier, Philippe, De Carvalho, Mamede, Drory, Vivian, Eitan, Chen, Redondo, Alberto Garcia, Gellera, Cinzia, Glass, Jonathan, Gotkine, Marc, Hardiman, Orla, Hornstein, Eran, Kenna, Brandon, Kiernan, Matthew, Kocoglu, Cemile, Kooyman, Maarten, Landers, John, Alonso, Victoria López, Middelkoop, Bas, Mill, Jonathan, Mitne-Neto, Miguel, Mora Pardina, Jesus, Morrison, Karen, Pinto, Susana, Gromicho, Marta, Panadés, Monica Povedano, Pulit, Sara, Ratti, Antonia, Robberecht, Wim, Schellevis, Raymond, Shatunov, Aleksey, Shaw, Christopher, Shaw, Pamela, Silani, Vincenzo, Staiger, Christine, Ticozzi, Nicola, Tunca, Ceren, Twine, Nathalie, Van Damme, Philip, van den Berg, Leonard, van Doormaal, Perry, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, Veldink, Jan, Visscher, Peter, Vourc’h, Patrick, Weber, Markus, Williams, Kelly, Wray, Naomi, Yang, Jian, Zatz, Mayana, Zhang, Katharine, Povedano, Mónica, Pardina, Jesus, Salachas, François, Pasterkamp, R Jeroen, Van Den Bosch, Ludo

Publikováno v: Dipòsit Digital de la UB
Universidad de Barcelona
Brain Communications
Brain Communications, Oxford University Press on behalf of the Guarantors of Brain, 2020, 2 (2), ⟨10.1093/braincomms/fcaa064⟩

Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8836527407f2453c462afa1f281a333d
http://hdl.handle.net/2445/174313

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