Last Posted: Jul 23, 2021
- Genetic etiology of a Chinese ataxia cohort: Expanding the mutational spectrum of hereditary ataxias.
Wan Na et al. Parkinsonism & related disorders 2021 89120-127
- Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands.
Kerstens Hans C J W et al. Orphanet journal of rare diseases 2021 16(1) 283
- Spinal cord stimulation improves motor function and gait in spastic paraplegia type 4 (SPG4): Clinical and neurophysiological evaluation.
Pinto de Souza Carolina et al. Parkinsonism & related disorders 2020 Dec 831-5
- Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
Bourinaris Thomas et al. European journal of human genetics : EJHG 2020 Sep
- Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum.
Taghizadeh Sara et al. Archives of Iranian medicine 2020 Jul 23(7) 426-433
- Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá Matilde et al. Current opinion in neurology 2019 32(5) 641-650
- Molecular analysis and clinical diversity of distal hereditary motor neuropathy.
Liu Xiaoxuan et al. European journal of neurology 2020 Apr
- Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Yanping et al. Journal of neurology 2019 Oct 266(10) 2434-2439
- Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.
Galatolo Daniele et al. Neurogenetics 2018 19(1) 1-8
- Novel Machine Learning Approach to Identify Preoperative Risk Factors Associated With Super-Utilization of Medicare Expenditure Following Surgery.
Hyer J Madison et al. JAMA surgery 2019 Aug
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.