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Precision Health Database


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Rare Diseases

Last data update: Dec 02, 2023. (Total: 62228 Documents since 2012)
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Records 1 - 15 (of 15 Records)

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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
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G et al. Neurologia (Barcelona, Spain) 2019 Apr
Survival Patterns and Cancer Determinants in Families with Myotonic Dystrophy Type I.
Best Ana et al. European journal of neurology 2018 Jul
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
Fernández Raquel María et al. BioMed research international 2017 20179165363
Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.
Richards C Sue et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
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