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Page 1
Myotonic Dystrophies: A Genetic Overview.
Soltanzadeh P. Soltanzadeh P. Genes (Basel). 2022 Feb 17;13(2):367. doi: 10.3390/genes13020367. Genes (Basel). 2022. PMID: 35205411 Free PMC article. Review.
There are two genetically distinct types of myotonic dystrophy: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2), both dominantly inherited with significant overlap in clinical manifestations. ...Recent advances in genetics an …
There are two genetically distinct types of myotonic dystrophy: myotonic dystrophy type 1 (DM1) and myotonic dystrophy type …
Myotonic dystrophy type 2.
Finsterer J. Finsterer J. Eur J Neurol. 2002 Sep;9(5):441-7. doi: 10.1046/j.1468-1331.2002.00453.x. Eur J Neurol. 2002. PMID: 12220374 Review.
Myotonic dystrophy type 2 (DM2) is a clinically but not genetically heterogeneous, multisystem disorder, that is clinically similar to, but distinct from myotonic dystrophy type 1 (DM1). ...Initially, the clinical differences between DM1 and PRO …
Myotonic dystrophy type 2 (DM2) is a clinically but not genetically heterogeneous, multisystem disorder, that is …
Global Prevalence of Myotonic Dystrophy: An Updated Systematic Review and Meta-Analysis.
Liao Q, Zhang Y, He J, Huang K. Liao Q, et al. Neuroepidemiology. 2022;56(3):163-173. doi: 10.1159/000524734. Epub 2022 Apr 28. Neuroepidemiology. 2022. PMID: 35483324 Free article.
To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random-effects model. Heterogeneity was assessed using the Cochrane Q statistic and the I2 statistic. ...
To derive the pooled epidemiological prevalence estimates, a meta-analysis was performed using the random-effects model. Heterogeneit …
The Dystrophic and Nondystrophic Myotonias.
Sansone VA. Sansone VA. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1889-1915. doi: 10.1212/CON.0000000000000414. Continuum (Minneap Minn). 2016. PMID: 27922499 Review.
The different clinical presentations of myotonic dystrophy type 2 and its main differential diagnostic options are also discussed. The clinical spectrum of the sodium and chloride channelopathies is described, and clinical diagnost …
The different clinical presentations of myotonic dystrophy type 2 and its main differential diagnostic op …
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
Finkel RS, Day JW, Pascual Pascual SI, Ryan MM, Mercuri E, De Vivo DC, Montes J, Gurgel-Giannetti J, Monine M, Gambino G, Makepeace C, Foster R, Berger Z; DEVOTE Study Group. Finkel RS, et al. J Neuromuscul Dis. 2023;10(5):813-823. doi: 10.3233/JND-221667. J Neuromuscul Dis. 2023. PMID: 37393513 Free PMC article.
OBJECTIVE: Here we describe both the design of DEVOTE (NCT04089566), a 3-part clinical study evaluating safety, tolerability, and efficacy of higher dose of nusinersen, and results from the initial Part A. METHODS: DEVOTE Part A evaluates safety and tolerability of a highe …
OBJECTIVE: Here we describe both the design of DEVOTE (NCT04089566), a 3-part clinical study evaluating safety, tolerability, and eff …
Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.
Fullam TR, Chandrashekhar S, Farmakidis C, Jawdat O, Pasnoor M, Dimachkie MM, Statland JM; CINCH Consortium. Fullam TR, et al. Muscle Nerve. 2022 Aug;66(2):148-158. doi: 10.1002/mus.27649. Epub 2022 Jun 16. Muscle Nerve. 2022. PMID: 35644941 Free PMC article.
Comparisons were restricted to confirmed sodium channelopathies (SCN4A, baseline, year 1, year 2: n = 34, 19, 13), chloride channelopathies (CLCN1, n = 32, 26, 18), and myotonic dystrophy type 2 (DM2, n = 9, 6, 2). RESULTS: Muscle stiffness was the mos …
Comparisons were restricted to confirmed sodium channelopathies (SCN4A, baseline, year 1, year 2: n = 34, 19, 13), chloride channelopathies …
Anesthesia and myotonic dystrophy type 2: a case series.
Weingarten TN, Hofer RE, Milone M, Sprung J. Weingarten TN, et al. Can J Anaesth. 2010 Mar;57(3):248-55. doi: 10.1007/s12630-009-9244-1. Epub 2010 Jan 15. Can J Anaesth. 2010. PMID: 20077169
BACKGROUND: Myotonic dystrophy type 2 (DM2) is a genetically distinct disorder that shares some phenotypical features of myotonic dystrophy type 1 (DM1). ...
BACKGROUND: Myotonic dystrophy type 2 (DM2) is a genetically distinct disorder that shares some phenotypical fea …
Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W. Finkel RS, et al. Lancet Child Adolesc Health. 2021 Jul;5(7):491-500. doi: 10.1016/S2352-4642(21)00100-0. Epub 2021 Jun 3. Lancet Child Adolesc Health. 2021. PMID: 34089650 Clinical Trial.
BACKGROUND: Nusinersen showed a favourable benefit-risk profile in participants with infantile-onset spinal muscular atrophy at the interim analysis of a phase 2 clinical study. We present the study's final analysis, assessing the efficacy and safety of nusinersen over 3 y …
BACKGROUND: Nusinersen showed a favourable benefit-risk profile in participants with infantile-onset spinal muscular atrophy at the interim …
Abnormal splicing of NEDD4 in myotonic dystrophy type 2: possible link to statin adverse reactions.
Screen M, Jonson PH, Raheem O, Palmio J, Laaksonen R, Lehtimäki T, Sirito M, Krahe R, Hackman P, Udd B. Screen M, et al. Am J Pathol. 2014 Aug;184(8):2322-32. doi: 10.1016/j.ajpath.2014.04.013. Epub 2014 Jun 5. Am J Pathol. 2014. PMID: 24907641 Free PMC article.
Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of CNBP. ...This leads to sequestration of splicing factors and alters pre-mRNA splicing in a range of downstream effector genes, which is thou …
Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of …
Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence.
Malatesta M, Giagnacovo M, Renna LV, Cardani R, Meola G, Pellicciari C. Malatesta M, et al. Eur J Histochem. 2011;55(3):e26. doi: 10.4081/ejh.2011.e26. Epub 2011 Aug 27. Eur J Histochem. 2011. PMID: 22073373 Free PMC article. Clinical Trial.
Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder caused by the expansion of the tetranucleotidic repeat (CCTG)n in the first intron of the Zinc Finger Protein-9 gene. ...
Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder caused by the expansion of the tetranucleotidi …
15 results