Myotonic Dystrophy Type 1
Last Posted: Aug 30, 2022
- Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.
Alfano Massimiliano et al. eLife 2022 11
- Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
van As Daniël et al. Journal of neuromuscular diseases 2021
- Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood Screening Program.
Johnson Nicholas E et al. Neurology 2021 Jan
- Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
Joosten Isis B T et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Nov
- The impact of parental unaffected allele combination on the diagnostic outcome in the preimplantation genetic testing for myotonic dystrophy type 1 in Japanese ancestry.
Senba Hiroshi et al. Reproductive medicine and biology 2020 Jul 19(3) 265-269
- Recent advances in molecular therapies for neurological disease: triplet repeat disorders.
Gonzalez-Alegre Pedro et al. Human molecular genetics 2019 28(R1) R80-R87
- Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.
McNally Elizabeth M et al. Journal of the American Heart Association 2020 Feb 9(4) e014006
- [Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital].
Tanaka Keiko et al. Rinsho shinkeigaku = Clinical neurology 2013 53(3) 196-204
- Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.
Lian Mulias et al. Frontiers in genetics 2019 10589
- New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Ricci Federica et al. Expert review of clinical pharmacology 2019 Jun
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