Infantile Neuroaxonal Dystrophy
What's New
Last Posted: Oct 26, 2024
- An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Amina Kurtovic-Kozaric, et al. Orphanet journal of rare diseases 2024 0 (1) 388 - Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Ali Zare Dehnavi, et al. Orphanet journal of rare diseases 2023 0 (1) 177 - A systematic analysis of genotype-phenotype associations with PLA2G6.
Jian Xue, et al. Parkinsonism & related disorders 2023 0 105477 - Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe.
Raj Karthik, et al. Canine medicine and genetics 2020 0 (1) 17 - [Analysis of PLA2G6 gene variant in a family affected with infantile neuroaxonal dystrophy].
Tan Jianqiang, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (1) 21-24 - Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy.
Hao Yan et al. Experimental and therapeutic medicine 2020 Feb 19(2) 956-964 - Genetic and phenotypic features of patients with childhood ataxias diagnosed by next-generation sequencing gene panel.
Arslan Elif Acar et al. Brain & development 2019 Sep - Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments.
Babin Patricia L et al. Frontiers in genetics 2018 9597 - Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.
Kapoor Saketh, et al. PloS one 2016 0 (5) e0155605 - High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
Nishioka Kenya, et al. Neurobiology of aging 2015 5 (5) 2004.e9-2004.e15
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- 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:Feb 1, 2024
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