Zobrazeno 1 - 10
of 1 540
pro vyhledávání: '"myotonic dystrophy type 1"'
Autor:
Manijeh Mahdavi, Karine Prévost, Philippe Balthazar, Isabelle Fisette-Paul Hus, Élise Duchesne, Nicolas Dumont, Valérie Gagné-Ouellet, Cynthia Gagnon, Isabelle Laforest-Lapointe, Eric Massé
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 23, Iss , Pp 2097-2108 (2024)
Myotonic dystrophy type 1 (DM1) is a rare autosomal dominant genetic disorder. Although DM1 is primarily characterized by progressive muscular weakness, it exhibits many multisystemic manifestations, such as cognitive deficits, cardiac conduction abn
Externí odkaz:
https://doaj.org/article/b65aaa6264ff428cbdeaafe6263fb378
Autor:
Michael Cupelli, Vamsi Krishna Murthy Ginjupalli, Jean-Baptiste Reisqs, Yvonne Sleiman, Nabil El-Sherif, Geneviève Gourdon, Jack Puymirat, Mohamed Chahine, Mohamed Boutjdir
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 180, Iss , Pp 117562- (2024)
Background: Myotonic dystrophy type 1 (DM1) is a multiorgan disorder with significant cardiac involvement. ECG abnormalities, including arrhythmias, occur in 80 % of DM1 patients and are the second-most common cause of death after respiratory complic
Externí odkaz:
https://doaj.org/article/e711d93d90794eb9828e3a96b068756f
Autor:
A. G. Klementieva, E. K. Erokhina, K. V. Shamtieva, E. A. Melnik, A. N. Khrobostova, M. B. Filipenko, A. A. Arakelyants, T. V. Peters, E. P. Pavlikova
Publikováno v:
Кардиоваскулярная терапия и профилактика, Vol 23, Iss 8 (2024)
Aim. To characterize cardiac damage in myotonic dystrophy type 1 (MD1), which is the most common form of hereditary primary muscular pathology in adults.Material and methods. Forty-eight patients with MD1 (31 men, 17 women, mean age 39,2±9,3 years)
Externí odkaz:
https://doaj.org/article/4f118968596a4566aa139a72c24b653c
Publikováno v:
Journal of General and Family Medicine, Vol 25, Iss 5, Pp 280-281 (2024)
Externí odkaz:
https://doaj.org/article/9a57fab3c5f247ae84a7f1c54716474e
Publikováno v:
MethodsX, Vol 13, Iss , Pp 102957- (2024)
Myotonic dystrophy Type 1 (DM1) is a neuromuscular disease characterized by multisystemic involvement including a progressive loss of muscle mass and strength. Further investigation on the effect of exercise in adults with DM1 is needed to incorporat
Externí odkaz:
https://doaj.org/article/b86dde40b31a4289bf61db8b75339cdc
Publikováno v:
Русский журнал детской неврологии, Vol 18, Iss 1, Pp 22-37 (2023)
Myotonic dystrophy type 1 (DM1) is one of the most common neuromuscular diseases with an autosomal dominant type of inheritance associated with expansion in the DMPK gene. A distinctive feature of the disease is the presence of muscle symptoms and mu
Externí odkaz:
https://doaj.org/article/8aa1ab119b1e4691bb8191b124dcd5ae
Autor:
E. K. Erokhina, K. V. Shamtieva, E. A. Melnik, D. O. Kazakov, S. A. Kurbatov, E. P. Pavlikova, O. A. Tikhonova, E. A. Mershina, V. E. Sinitsyn, D. V. Vlodavets
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2 (2024)
Background. Myotonic dystrophy type 1 (DM1) is a hereditary slowly progressive multisystem disease with an autosomal dominant mode of inheritance, caused by the expansion of trinucleotide (CTG)n repeats in the 3’ untranslated region of the DMPK gen
Externí odkaz:
https://doaj.org/article/002ad306ab4241e18b1f04d4f7cc328f
Publikováno v:
Heliyon, Vol 10, Iss 10, Pp e30875- (2024)
Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited. The aim of this study was to examine the prevalence of signs of neurocog
Externí odkaz:
https://doaj.org/article/1681e4d4926142849f7547eddbd2a324
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
IntroductionMyotonic dystrophy type 1 (DM1) is a hereditary neuromuscular disorder affecting the central nervous system (CNS). Although sex differences have been explored in other neuromuscular disorders, research on this topic in DM1 remains limited
Externí odkaz:
https://doaj.org/article/369f27368b004b7f9334cf45ccd56e9a
Autor:
Milija Mijajlovic, Ivo Bozovic, Aleksandra Pavlovic, Vidosava Rakocevic-Stojanovic, Sanja Gluscevic, Amalija Stojanovic, Ivana Basta, Giovanni Meola, Stojan Peric
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26856- (2024)
Introduction: Myotonic dystrophy type 1 (DM1) and 2 (DM2) are genetically determined progressive muscular disorders with multisystemic affection, including brain involvement. Transcranial sonography (TCS) is a reliable diagnostic tool for the investi
Externí odkaz:
https://doaj.org/article/119b45579f9b4ba49855f8a94f9a9c72