Last Posted: Nov 02, 2023
- End-of-Life Discussions With Patients and Caregivers Affected By Neurogenetic Diseases.
Dorsemans Anne-Claire et al. Neurol Clin Pract 2023 13(6) e200199
- What Is Huntington Disease?
R Marcus, JAMA, August 21, 2023
- Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.
Martin Paucar et al. J Neurol Sci 2023 451120707
- Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022
- A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
Lipsmeier Florian et al. Journal of medical Internet research 2022 24(6) e32997
- In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception with prenatal diagnosis for Huntington disease: a cost-effectiveness analysis.
Christensen Alicia A et al. Fertility and sterility 2022
- Genetic modifiers of Huntington disease differentially influence motor and cognitive domains
JM Lee et al, AJHG, March 23, 2022
- Return of research results (RoRR) to the healthy CHRIS cohort: designing a policy with the participants.
Staunton Ciara et al. Journal of community genetics 2021
- Validation of diagnostic codes and epidemiologic trends of Huntington disease: a population-based study in Navarre, Spain.
Vicente Esther et al. Orphanet journal of rare diseases 2021 Feb 16(1) 77
- Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Amador Maria Del Mar et al. Neurology. Genetics 2021 Feb 7(1) e538
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 Public Health Genomics Branch 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.
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 07, 2023
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