Zobrazeno 1 - 10
of 30
pro vyhledávání: '"myotonic dystrophy (DM1)"'
Autor:
Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A. Timchenko, Lubov Timchenko
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 13, p 10650 (2023)
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease associated with toxic RNA containing expanded CUG repeats. The developing therapeutic approaches to DM1 target mutant RNA or correct early toxic events downstream of the mutant RNA. We have p
Externí odkaz:
https://doaj.org/article/c9cd2fbc31f041a88560c0eb06348b63
Autor:
Laia Brunet Garcia, Ankita Hajra, Ella Field, Joseph Wacher, Helen Walsh, Gabrielle Norrish, Adnan Manzur, Francesco Muntoni, Pinki Munot, Stephanie Robb, Rosaline Quinlivan, Mariacristina Scoto, Giovanni Baranello, Anna Sarkozy, Luke Starling, Juan Pablo Kaski, Elena Cervi
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular dystrophy in adults. It is a multisystem disease with cardiac manifestations. Whilst these are well-defined in adults, there are scarce published data in the pediatric popu
Externí odkaz:
https://doaj.org/article/3fb4b718270d4f3b9aae0d632cd63a13
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Abstract Background Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and ur
Externí odkaz:
https://doaj.org/article/e1ba6a7e8dba402aa669760d8147325b
Autor:
Sylvia Nieuwenhuis, Kees Okkersen, Joanna Widomska, Paul Blom, Peter A. C. 't Hoen, Baziel van Engelen, Jeffrey C. Glennon
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease characterized by multi-system involvement. Affected organ system includes skeletal muscle, heart, gastro-intestinal system and the brain. In this review, we evaluate the evidenc
Externí odkaz:
https://doaj.org/article/75452f87c1a741b89d935c5864036dce
Autor:
Timchenko, Maggie Lutz, Miranda Levanti, Rebekah Karns, Genevieve Gourdon, Diana Lindquist, Nikolai A. Timchenko, Lubov
Publikováno v:
International Journal of Molecular Sciences; Volume 24; Issue 13; Pages: 10650
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease associated with toxic RNA containing expanded CUG repeats. The developing therapeutic approaches to DM1 target mutant RNA or correct early toxic events downstream of the mutant RNA. We have p
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Akademický článek
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Publikováno v:
BMC Neurology
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Background Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary inc
Autor:
Paul Blom, Sylvia Nieuwenhuis, Jeffrey C. Glennon, Baziel G.M. van Engelen, Peter A C 't Hoen, Joanna Widomska, Kees Okkersen
Publikováno v:
Frontiers in Neurology, 10
Frontiers in Neurology
Frontiers in Neurology, Vol 10 (2019)
Frontiers in Neurology
Frontiers in Neurology, Vol 10 (2019)
Contains fulltext : 215262.pdf (Publisher’s version ) (Open Access) Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease characterized by multi-system involvement. Affected organ system includes skeletal muscle, heart, gastro-in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5bdb55b20682e188f161ee362525c1
https://hdl.handle.net/2066/215262
https://hdl.handle.net/2066/215262
Akademický článek
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