BPAN
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Publisher
Elsevier
Reference7 articles.
1. Network organization of the human autophagy system;Behrends;Nature,2010
2. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy;Cullup;Nature Genetics,2013
3. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA;Haack;American Journal of Human Genetics,2012
4. Beta-propeller protein-associated neurodegeneration: A new X-linked dominant disorder with brain iron accumulation;Hayflick;Brain,2013
5. WD-repeat proteins: Structure characteristics, biological function, and their involvement in human diseases;Li;Cellular and Molecular Life Sciences,2001
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1. Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN;International Journal of Molecular Sciences;2023-09-26
2. Beta-propeller protein-associated neurodegeneration: A clinical update with a case report;eNeurologicalSci;2023-06
3. Targeted resequencing reveals high-level mosaicism for a novel frameshift variant in WDR45 associated with beta-propeller protein-associated neurodegeneration;International Journal of Neuroscience;2023-05-04
4. Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN);Molecular Genetics and Metabolism;2022-09
5. Integrating Environment and Aging Research: Opportunities for Synergy and Acceleration;Frontiers in Aging Neuroscience;2022-02-21
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