Concepedia

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism

Kenya Nishioka, Genko Oyama, Hiroyo Yoshino, Yuanzhe Li, T Matsushima, Chisen Takeuchi, Yoko Mochizuki, Madoka Mori‐Yoshimura, Miho Murata, Chikara Yamasita,

Neurobiology of Aging · 2015 · 45 citations · 15 references

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References

15

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Laura Carrel, Huntington F. Willard · Nature · 2005 · 2.1K citations

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Network organization of the human autophagy system

Christian Behrends, Mathew E. Sowa, Steven P. Gygi et al. · Nature · 2010 · 1.6K citations · Full text

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Dynamic and transient interactions of Atg9 with autophagosomes, but not membrane integration, are required for autophagy

Andrea Orsi, Minoo Razi, Hannah C. Dooley et al. · Molecular Biology of the Cell · 2012 · 570 citations

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Characterization of PLA2G6 as a locus for dystonia‐parkinsonism

Coro Paisán-Ruı́z, Kailash P. Bhatia, Abi Li et al. · Annals of Neurology · 2008 · 482 citations

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations

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