Last Posted: Jul 23, 2020
- Evaluating the Diagnostic and Prognostic Value of Biomarkers for Heart Disease and Major Adverse Cardiac Events in Patients With Muscular Dystrophy.
Nikhanj Anish et al. European heart journal. Quality of care & clinical outcomes 2020 Jul
- Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?
Taylor Shelby et al. Journal of genetic counseling 2019 Aug
- New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Ricci Federica et al. Expert review of clinical pharmacology 2019 Jun
- The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio Marie et al. Orphanet journal of rare diseases 2019 Jun 14(1) 122
- 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
- A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
Theadom Alice et al. Neuroepidemiology 2019 Jan 52(3-4) 128-135
- 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
- ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.
Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar;120(1):15-22.
- 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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.