Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

Author:

Paudel R.,Li A.,Wiethoff S.,Bandopadhyay R.,Bhatia K.,de Silva R.,Houlden H.,Holton J. L.

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Reference16 articles.

1. Gregory A, Hayflick S (1993) Neurodegeneration with Brain Iron Accumulation Disorders Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Stephens K (eds) GeneReviews(®) [Internet]. University of Washington, Seattle, Seattle (WA)

2. Arber C, Li A, Houlden H, Wray S (2015) Insights into molecular mechanisms of disease in Neurodegeneration with Brain Iron Accumulation; unifying theories. Neuropathol Appl Neurobiol. doi: 10.1111/nan.12242.

3. Haack TB1, Hogarth P, Kruer MC, Gregory A, Wieland T, Schwarzmayr T, Graf E, Sanford L, Meyer E, Kara E, Cuno SM, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Frucht S, Hanspal E, Schrander-Stumpel C, Héron D, Mignot C, Garavaglia B, Bhatia K, Hardy J, Strom TM, Boddaert N, Houlden HH, Kurian MA, Meitinger T, Prokisch H, Hayflick SJ (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet 91(6):1144–9

4. Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N (2013) De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 45(4):445–9, 449e1

5. Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Héron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P (2013) β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 136(Pt 6):1708–17

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