Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Myotonic dystrophy type I"'
Autor:
Kevin Chapron, Patrick Lapointe, Isabelle Lessard, Hans Darsmstadt-Belanger, Kevin Bouchard, Cynthia Gagnon, Melissa Lavoie, Elise Duchesne, Sebastien Gaboury
Publikováno v:
IEEE Access, Vol 9, Pp 49960-49973 (2021)
Myotonic dystrophy type 1 (DM1) is a rare disease where the highest prevalence is found in the small geographical region of Saguenay-Lac-St-Jean in Quebec, Canada. This disease impacts the quality of life and the ability of the affected people to pur
Externí odkaz:
https://doaj.org/article/06fc3f92265c4a559505c490fb0e0335
Autor:
Mazzoli, Marco, Ariatti, Alessandra, Garuti, Gian Carlo, Agnoletto, Virginia, Genovese, Maurilio, Gozzi, Manuela, Kaleci, Shaniko, Marchioni, Alessandro, Malagoli, Marcella, Galassi, Giuliana
Publikováno v:
Acta Myologica
The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy. Methods
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71caa510c9cc7f1fda3ea70d19625477
http://europepmc.org/articles/PMC7711325
http://europepmc.org/articles/PMC7711325
Autor:
Silvie Franck, Edouard Couvreu De Deckersberg, Jodi L. Bubenik, Christina Markouli, Lise Barbé, Joke Allemeersch, Pierre Hilven, Geoffrey Duqué, Maurice S. Swanson, Alexander Gheldof, Claudia Spits, Karen D. Sermon
Publikováno v:
Biology Open
article-version (VoR) Version of Record
article-version (VoR) Version of Record
Skeletal muscle tissue is severely affected in myotonic dystrophy type 1 (DM1) patients, characterised by muscle weakness, myotonia and muscle immaturity in the most severe congenital form of the disease. Previously, it was not known at what stage du
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77b5b7676e6d93fe1714f08b7ae3e83c
https://lirias.kuleuven.be/handle/20.500.12942/704629
https://lirias.kuleuven.be/handle/20.500.12942/704629
Autor:
Oliveira Braz, Sandra
Myotonic dystrophy type 1 (DM1) is a neuromuscular disease that affects many tissues. Brain involvement is demonstrated by debilitating neurological symptoms, as well as brain structural changes, such as predominant white matter lesions. DM1 neurolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______166::5a8215f1222784683f8c5bc2cebef931
https://theses.hal.science/tel-03978221
https://theses.hal.science/tel-03978221
Akademický článek
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Autor:
Crawford Parks, Tara
Over the past decade several converging lines of evidence have highlighted the importance of post-transcriptional events in skeletal muscle. This level of regulation is controlled by multi-functional RNA-binding proteins and trans-acting factors. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb4fcff7a07b486c5cb97975e6bca018
Autor:
Azimi, Mehrdad
Myotonic Dystrophy Type I (DM1) is a multi-systemic genetic neuromuscular degenerative disease, has a prevalence in most populations of about 1:8000 and is caused by the nuclear retention of pathogenically expanded DMPK mRNA. A previous DM1 RNAi-kino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf835af3f449a98cb077921c1a2a2217
Autor:
Michon, Claire-Cécile
Des difficultés de compréhension interpersonnelles sont régulièrement rapportées par les proches et les patients atteints de Dystrophie Myotonique de type I (DM1) ou de Dystrophie Facio-Scapulo-Humérale (FSHD). Nous nous sommes intéressés à
Externí odkaz:
http://www.theses.fr/2016PA080033/document
Autor:
Jocelyn Côté, Tara E. Crawford Parks, Bernard J. Jasmin, Aymeric Ravel-Chapuis, Emma Bondy-Chorney
Publikováno v:
Rare Diseases
In a recent issue of PLOS Genetics, we reported that the double-stranded RNA-binding protein, Staufen1, functions as a disease modifier in the neuromuscular disorder Myotonic Dystrophy Type I (DM1). In this work, we demonstrated that Staufen1 regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9e7cd9a398775b0d24e5664528d7265
http://europepmc.org/articles/PMC5027583
http://europepmc.org/articles/PMC5027583
Akademický článek
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