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2013 2
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2018 3
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Page 1
Myotonic dystrophy type 2: the 2020 update.
Meola G. Meola G. Acta Myol. 2020 Dec 1;39(4):222-234. doi: 10.36185/2532-1900-026. eCollection 2020 Dec. Acta Myol. 2020. PMID: 33458578 Free PMC article. Review.
For the enormous understanding of the molecular pathogenesis of myotonic dystrophy type 1 and myotonic dystrophy type 2, these diseases are now called "spliceopathies" and are mediated by a primary disorder of RNA rather than proteins. ...Gene therapy …
For the enormous understanding of the molecular pathogenesis of myotonic dystrophy type 1 and myotonic dystrophy …
Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?
Angeard N, Huerta E, Jacquette A, Cohen D, Xavier J, Gargiulo M, Servais L, Eymard B, Héron D. Angeard N, et al. Neuromuscul Disord. 2018 Mar;28(3):216-221. doi: 10.1016/j.nmd.2017.12.006. Epub 2017 Dec 15. Neuromuscul Disord. 2018. PMID: 29361396 Review.
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability …
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on t …
What is in the Myopathy Literature?
Lacomis D. Lacomis D. J Clin Neuromuscul Dis. 2019 Sep;21(1):7-13. doi: 10.1097/CND.0000000000000261. J Clin Neuromuscul Dis. 2019. PMID: 31453849 Review.
In this issue, an article describing a newly defined entity, myoglobinopathy, is covered. This autosomal-dominant, adult-onset, proximal-predominant myopathy may be associated with cardiac involvement and is due to a mutation in MB. ...Several articles address respi …
In this issue, an article describing a newly defined entity, myoglobinopathy, is covered. This autosomal-dominant, adult-onset …
[Steinert disease].
Bouhour F, Bost M, Vial C. Bouhour F, et al. Presse Med. 2007 Jun;36(6 Pt 2):965-71. doi: 10.1016/j.lpm.2007.01.002. Epub 2007 Feb 7. Presse Med. 2007. PMID: 17289339 Free article. Review. French.
Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sle …
Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multior …
The current clinical perception of myotonic dystrophy type 2.
Kleefeld F, Schoser B. Kleefeld F, et al. Curr Opin Neurol. 2023 Oct 1;36(5):474-478. doi: 10.1097/WCO.0000000000001186. Epub 2023 Jul 18. Curr Opin Neurol. 2023. PMID: 37639480 Review.
PURPOSE OF REVIEW: Myotonic dystrophy type 2 (DM2) is a genetic disorder belonging to the spectrum of myotonic dystrophies. ...SUMMARY: The multisystemic aspects of the disease require a multidisciplinary approach for some patients, most likely even including …
PURPOSE OF REVIEW: Myotonic dystrophy type 2 (DM2) is a genetic disorder belonging to the spectrum of myotonic dystroph …
Molecular genetics of congenital myotonic dystrophy.
Lanni S, Pearson CE. Lanni S, et al. Neurobiol Dis. 2019 Dec;132:104533. doi: 10.1016/j.nbd.2019.104533. Epub 2019 Jul 19. Neurobiol Dis. 2019. PMID: 31326502 Free article. Review.
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion of a CTG repeat tract in the 3'-UTR of the DMPK gene. Congenital Myotonic Dystrophy (CDM1) represents the most severe form of …
Myotonic Dystrophy type 1 (DM1) is a neuromuscular disease showing strong genetic anticipation, and is caused by the expansion …
Speech and language abnormalities in myotonic dystrophy: An overview.
Hanoun S, Sun Y, Ebrahimi F, Ghasemi M. Hanoun S, et al. J Clin Neurosci. 2022 Feb;96:212-220. doi: 10.1016/j.jocn.2021.10.031. Epub 2021 Nov 14. J Clin Neurosci. 2022. PMID: 34789418 Review.
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular and multisystem disease that is divided into two types, DM1 and DM2, according to mutations in DMPK and CNBP genes, respectively. ...Our literature search highlights that irrespective of age, all DM pati …
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular and multisystem disease that is divided into two types, DM1 and …
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.
LoRusso S, Weiner B, Arnold WD. LoRusso S, et al. Neurotherapeutics. 2018 Oct;15(4):872-884. doi: 10.1007/s13311-018-00679-z. Neurotherapeutics. 2018. PMID: 30341596 Free PMC article. Review.
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. ...Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results i …
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and m …
Molecular genetics and genetic testing in myotonic dystrophy type 1.
Savić Pavićević D, Miladinović J, Brkušanin M, Šviković S, Djurica S, Brajušković G, Romac S. Savić Pavićević D, et al. Biomed Res Int. 2013;2013:391821. doi: 10.1155/2013/391821. Epub 2013 Mar 18. Biomed Res Int. 2013. PMID: 23586035 Free PMC article. Review.
Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. ...
Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multis …
Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation.
Dauvilliers YA, Laberge L. Dauvilliers YA, et al. Sleep Med Rev. 2012 Dec;16(6):539-45. doi: 10.1016/j.smrv.2012.01.001. Epub 2012 Mar 31. Sleep Med Rev. 2012. PMID: 22465566 Review.
Myotonic dystrophy type 1 (DM1), or Steinert's disease, is the most common adult-onset form of muscular dystrophy. ...
Myotonic dystrophy type 1 (DM1), or Steinert's disease, is the most common adult-onset form of muscular …
28 results