Neurodegeneration With Brain Iron Accumulation
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Last Posted: Apr 14, 2024
- Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation.
Rubens Paulo Araújo Salomão, et al. Parkinsonism & related disorders 2024 0 106103 - A systematic analysis of genotype-phenotype associations with PLA2G6.
Jian Xue, et al. Parkinsonism & related disorders 2023 0 105477 - Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson's disease.
Alvarez Jerez Pilar, et al. NPJ Parkinson's disease 2023 0 (1) 54 - Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan Min-Yu, et al. Frontiers in neurology 2022 0 1005670 - Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.
Tschentscher Anne, et al. Journal of the neurological sciences 2015 0 (1-2) 105-9 - Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
Kolarova Hana, et al. EBioMedicine 2022 0 103869 - PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.
Jafarzadeh Esfehani Reza, et al. Iranian journal of basic medical sciences 2022 0 (9) 1190-1195 - Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
Painous C et al. European journal of neurology 2020 May - The relevance of gene panels in movement disorders diagnosis: A lab perspective.
Reale Chiara et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 Jan - Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.
Marras Connie et al. Movement disorders : official journal of the Movement Disorder Society 2016 Apr 31(4) 436-57 - Pallidal neuronal apolipoprotein E in pantothenate kinase-associated neurodegeneration recapitulates ischemic injury to the globus pallidus.
Woltjer Randall L, et al. Molecular genetics and metabolism 2015 10 - Acanthocytosis and the c.680 A>G Mutation in the PANK2 Gene: A Study Enrolling a Cohort of PKAN Patients from the Dominican Republic.
Schiessl-Weyer Jasmin, et al. PloS one 2015 0 (4) e0125861 - 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 - Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.
Gui YX, et al. Parkinsonism & related disorders 2012 11 - Analysis of ATP13A2 in large neurodegeneration with brain iron accumulation (NBIA) and dystonia-parkinsonism cohorts.
Kruer Michael C, et al. Neuroscience letters 2012 8 (1) 35-8 - The PLA2G6 gene in early-onset Parkinson's disease.
Kauther Kai Michael, et al. Movement disorders : official journal of the Movement Disorder Society 2011 11 (13) 2415-7 - Neurodegeneration with brain iron accumulation
From NCATS Genetic and Rare Diseases Information Center - Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A, et al. Neurology 2008 10 (18) 1402-9 - HFE gene mutations in a population of Italian Parkinson's disease patients.
Biasiotto Giorgio, et al. Parkinsonism & related disorders 2008 0 (5) 426-30 - Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.
Hartig Monika B, et al. Annals of neurology 2006 2 (2) 248-56
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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
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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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