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There are 3010 results for: content related to: ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

  1. You have free access to this content
    Hypoxia regulation of ATP13A2 (PARK9) gene transcription

    Journal of Neurochemistry

    Volume 122, Issue 2, July 2012, Pages: 251–259, Qian Xu, Hongling Guo, Xiaojie Zhang, Beisha Tang, Fang Cai, Weihui Zhou and Weihong Song

    Article first published online : 17 FEB 2012, DOI: 10.1111/j.1471-4159.2012.07676.x

  2. You have free access to this content
    ATP13A2 deficiency induces a decrease in cathepsin D activity, fingerprint-like inclusion body formation, and selective degeneration of dopaminergic neurons

    FEBS Letters

    Volume 587, Issue 9, May 02, 2013, Pages: 1316–1325, Hideaki Matsui, Fumiaki Sato, Shigeto Sato, Masato Koike, Yosuke Taruno, Shinji Saiki, Manabu Funayama, Hidefumi Ito, Yoshihito Taniguchi, Norihito Uemura, Atsushi Toyoda, Yoshiyuki Sakaki, Shunichi Takeda, Yasuo Uchiyama, Nobutaka Hattori and Ryosuke Takahashi

    Article first published online : 13 MAR 2013, DOI: 10.1016/j.febslet.2013.02.046

  3. The role of ATP13A2 in Parkinson's disease: Clinical phenotypes and molecular mechanisms

    Movement Disorders

    Volume 30, Issue 6, May 2015, Pages: 770–779, Jin-Sung Park, Nicholas F. Blair and Carolyn M. Sue

    Article first published online : 21 APR 2015, DOI: 10.1002/mds.26243

  4. Characterization of cellular protective effects of ATP13A2/PARK9 expression and alterations resulting from pathogenic mutants

    Journal of Neuroscience Research

    Volume 90, Issue 12, December 2012, Pages: 2306–2316, Jason P. Covy, Elisa A. Waxman and Benoit I. Giasson

    Article first published online : 30 JUL 2012, DOI: 10.1002/jnr.23112

  5. Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

    Human Mutation

    Volume 32, Issue 8, August 2011, Pages: 956–964, Jin-Sung Park, Prachi Mehta, Antony A. Cooper, David Veivers, André Heimbach, Barbara Stiller, Christian Kubisch, Victor S. Fung, Dimitri Krainc, Alan Mackay-Sim and Carolyn M. Sue

    Article first published online : 12 JUL 2011, DOI: 10.1002/humu.21527

  6. Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

    Clinical Genetics

    Volume 82, Issue 3, September 2012, Pages: 256–263, H Eiberg, L Hansen, L Korbo, IM Nielsen, K Svenstrup, S Bech, LH Pinborg, L Friberg, LE Hjermind, OR Olsen and JE Nielsen

    Article first published online : 18 JUL 2011, DOI: 10.1111/j.1399-0004.2011.01745.x

  7. You have full text access to this OnlineOpen article
    Insights into molecular mechanisms of disease in neurodegeneration with brain iron accumulation: unifying theories

    Neuropathology and Applied Neurobiology

    Charles Edward Arber, Abi Li, Henry Houlden and Selina Wray

    Article first published online : 2 JUN 2015, DOI: 10.1111/nan.12242

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    Genes associated with Parkinson's disease: regulation of autophagy and beyond

    Journal of Neurochemistry

    Alexandra Beilina and Mark R Cookson

    Article first published online : 3 SEP 2015, DOI: 10.1111/jnc.13266

  9. Atp13a2 Deficiency Aggravates Astrocyte-Mediated Neuroinflammation via NLRP3 Inflammasome Activation

    CNS Neuroscience & Therapeutics

    Chen Qiao, Nuo Yin, Huan-Yu Gu, Jia-Lei Zhu, Jian-Hua Ding, Ming Lu and Gang Hu

    Article first published online : 5 FEB 2016, DOI: 10.1111/cns.12514

  10. Syndromes of neurodegeneration with brain iron accumulation (NBIA): An update on clinical presentations, histological and genetic underpinnings, and treatment considerations

    Movement Disorders

    Volume 27, Issue 1, January 2012, Pages: 42–53, Susanne A. Schneider, John Hardy and Kailash P. Bhatia

    Article first published online : 26 OCT 2011, DOI: 10.1002/mds.23971

  11. ATP13A2 variability in Parkinson disease

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 406–410, Carles Vilariño-Güell, Alexandra I. Soto, Sarah J. Lincoln, Samia Ben Yahmed, Mounir Kefi, Michael G. Heckman, Mary M. Hulihan, Hua Chai, Nancy N. Diehl, Rim Amouri, Alex Rajput, Deborah C. Mash, Dennis W. Dickson, Lefkos T. Middleton, Rachel A. Gibson, Faycal Hentati and Matthew J. Farrer

    Article first published online : 9 DEC 2008, DOI: 10.1002/humu.20877

  12. Abstracts

    Movement Disorders

    Volume 29, Issue S2, November 2014, Pages: S13–S101,

    Article first published online : 26 NOV 2014, DOI: 10.1002/mds.26090

  13. ATP13A2 variability in Taiwanese Parkinson's disease

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 156, Issue 6, September 2011, Pages: 720–729, Chiung-Mei Chen, Chih-Hsin Lin, Hsueh-Fen Juan, Fen-Ju Hu, Ya-Chin Hsiao, Hsin-Yi Chang, Chih-Ying Chao, I-Cheng Chen, Li-Ching Lee, Tsu-Wei Wang, Ya-Tang Chen, Yi-Tsun Chen, Guey-Jen Lee-Chen and Yih-Ru Wu

    Article first published online : 28 JUN 2011, DOI: 10.1002/ajmg.b.31214

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    Altered apoptosis regulation in Kufor–Rakeb syndrome patients with mutations in the ATP13A2 gene

    Journal of Cellular and Molecular Medicine

    Volume 16, Issue 8, August 2012, Pages: 1916–1923, Elena Radi, Patrizia Formichi, Giuseppe Di Maio, Carla Battisti and Antonio Federico

    Article first published online : 29 JUL 2012, DOI: 10.1111/j.1582-4934.2011.01488.x

  15. Lysosomal impairment in Parkinson's disease

    Movement Disorders

    Volume 28, Issue 6, June 2013, Pages: 725–732, Benjamin Dehay, Marta Martinez-Vicente, Guy A. Caldwell, Kim A. Caldwell, Zhenyue Yue, Mark R. Cookson, Christine Klein, Miquel Vila and Erwan Bezard

    Article first published online : 11 APR 2013, DOI: 10.1002/mds.25462

  16. New insights into lysosomal dysfunction in parkinson's disease: An emerging role for ATP13A2

    Movement Disorders

    Volume 27, Issue 9, August 2012, Page: 1092, Jean-Christophe Rochet

    Article first published online : 3 AUG 2012, DOI: 10.1002/mds.25118

  17. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

    Movement Disorders

    Volume 25, Issue 12, 15 September 2010, Pages: 1791–1800, Coro Paisán-Ruiz, Rocio Guevara, Monica Federoff, Hasmet Hanagasi, Fardaz Sina, Elahe Elahi, Susanne A. Schneider, Petra Schwingenschuh, Nin Bajaj, Murat Emre, Andrew B. Singleton, John Hardy, Kailash P. Bhatia, Sebastian Brandner, Andrew J. Lees and Henry Houlden

    Article first published online : 28 JUL 2010, DOI: 10.1002/mds.23221

  18. ATP13A2 variants in early-onset Parkinson's disease patients and controls

    Movement Disorders

    Volume 24, Issue 14, 30 October 2009, Pages: 2104–2111, Ana Djarmati, Johann Hagenah, Kathrin Reetz, Susen Winkler, Maria Isabel Behrens, Heike Pawlack, Katja Lohmann, Alfredo Ramirez, Vera Tadić, Norbert Brüggemann, Daniela Berg, Hartwig R. Siebner, Anthony E. Lang, Peter P. Pramstaller, Ferdinand Binkofski, Vladimir S. Kostić, Jens Volkmann, Thomas Gasser and Christine Klein

    Article first published online : 24 AUG 2009, DOI: 10.1002/mds.22728

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    Poster Presentations

    Movement Disorders

    Volume 30, Issue S1, June 2015, Pages: S1–S567,

    Article first published online : 12 JUN 2015, DOI: 10.1002/mds.26295

  20. Eye movement disorders in ATP13A2 mutation carriers (PARK9)

    Movement Disorders

    Volume 25, Issue 15, 15 November 2010, Pages: 2687–2689, Björn Machner, Andreas Sprenger, Maria Isabel Behrens, Alfredo Ramirez, Norbert Brüggemann, Christine Klein and Christoph Helmchen

    Article first published online : 14 SEP 2010, DOI: 10.1002/mds.23352