Last Posted: Mar 06, 2023
- A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher?Neuhäuser syndrome.
Zheng Ruizhi, et al. Molecular medicine reports 2018 0 (1) 261-267
- Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.
Venkatesh Sowmya Devatha, et al. Journal of genetics 2018 0 (1) 219-224
- Gene-Related Cerebellar Neurodegeneration in SCA3/MJD: A Case-Controlled Imaging-Genetic Study.
Peng Huirong, et al. Frontiers in neurology 2019 0 1025
- Cognitive Syndromes and C9orf72 Mutation Are Not Related to Cerebellar Degeneration in Amyotrophic Lateral Sclerosis.
Consonni Monica, et al. Frontiers in neuroscience 2019 0 440
- Genotype-associated cerebellar profiles in ALS: focal cerebellar pathology and cerebro-cerebellar connectivity alterations.
Bede Peter, et al. Journal of neurology, neurosurgery, and psychiatry 2021 0 (11) 1197-1205
- Immune and Genetic Signatures of Breast Carcinomas Triggering Anti-Yo-Associated Paraneoplastic Cerebellar Degeneration.
Peter Elise, et al. Neurology(R) neuroimmunology & neuroinflammation 2022 0 (5)
- Thalamic and Cerebellar Regional Involvement across the ALS-FTD Spectrum and the Effect of C9orf72.
Bocchetta Martina, et al. Brain sciences 2022 0 (3)
- Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias.
Afonso-Reis Ricardo et al. International journal of molecular sciences 2021 22(8)
- Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.
Koga Shunsuke, et al. Movement disorders : official journal of the Movement Disorder Society 2016 2
- Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.
Choubtum Lulin, et al. BMC neurology 2015 0 (1) 166
About Rare Diseases PHGKB
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.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
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