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There are 2184040 results for: content related to: Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias

  1. 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

    Version of Record online : 26 OCT 2011, DOI: 10.1002/mds.23971

  2. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

    Annals of Neurology

    Volume 68, Issue 5, November 2010, Pages: 611–618, Michael C. Kruer, Coro Paisán-Ruiz, Nathalie Boddaert, Moon Y. Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Munnich, Stephanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden and Susan J. Hayflick

    Version of Record online : 17 SEP 2010, DOI: 10.1002/ana.22122

  3. Cerebral Iron Accumulation Is Not a Major Feature of FA2H/SPG35

    Movement Disorders Clinical Practice

    Volume 2, Issue 1, March 2015, Pages: 56–60, Cecilia Marelli, Mustafa A. Salih, Karine Nguyen, Martial Mallaret, Nicolas Leboucq, Hamdy H. Hassan, Nathalie Drouot, Pierre Labauge and Michel Koenig

    Version of Record online : 18 FEB 2015, DOI: 10.1002/mdc3.12118

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

    Neuropathology and Applied Neurobiology

    Volume 42, Issue 3, April 2016, Pages: 220–241, C. E. Arber, A. Li, H. Houlden and S. Wray

    Version of Record online : 2 JUN 2015, DOI: 10.1111/nan.12242

  5. Neurodegeneration with Brain Iron Accumulation: Clinicoradiological Approach to Diagnosis

    Journal of Neuroimaging

    Volume 25, Issue 4, July/August 2015, Pages: 539–551, Lázaro L. F. Amaral, Santhosh Gaddikeri, Philip R. Chapman, Rasmoni Roy, Ramya S. Gaddikeri, Victor Hugo Marussi and Asim K. Bag

    Version of Record online : 24 DEC 2014, DOI: 10.1111/jon.12195

  6. NBIA due to FA2H gene mutations is allelic with hereditary spastic paraplegia (SPG35) and a form of familial leukodystrophy

    Movement Disorders

    Volume 26, Issue 7, June 2011, Page: 1195, Susanne A. Schneider

    Version of Record online : 20 JUN 2011, DOI: 10.1002/mds.23715

  7. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12

    Human Mutation

    Volume 34, Issue 10, October 2013, Pages: 1357–1360, Guida Landouré, Peng-Peng Zhu, Charles M. Lourenço, Janel O. Johnson, Camilo Toro, Katherine V. Bricceno, Carlo Rinaldi, Katherine G. Meilleur, Modibo Sangaré, Oumarou Diallo, Tyler M. Pierson, Hiroyuki Ishiura, Shoji Tsuji, Nichole Hein, John K. Fink, Marion Stoll, Garth Nicholson, Michael A. Gonzalez, Fiorella Speziani, Alexandra Dürr, Giovanni Stevanin, Leslie G. Biesecker, for the NIH Intramural Sequencing Center, John Accardi, Dennis M. D. Landis, William A. Gahl, Bryan J. Traynor, Wilson Marques Jr, Stephan Züchner, Craig Blackstone, Kenneth H. Fischbeck and Barrington G. Burnett

    Version of Record online : 12 AUG 2013, DOI: 10.1002/humu.22378

  8. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Version of Record online : 19 JUN 2012, DOI: 10.1002/mds.25051

  9. SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 85–89, X. Liao, Y. Luo, Z. Zhan, J. Du, Z. Hu, J. Wang, J. Guo, Z. Hu, X. Yan, Q. Pan, K. Xia, B. Tang and L. Shen

    Version of Record online : 26 JAN 2014, DOI: 10.1111/cge.12336

  10. You have free access to this content
    Poster Session

    Movement Disorders

    Volume 31, Issue S2, June 2016, Pages: S1–S697,

    Version of Record online : 19 JUN 2016, DOI: 10.1002/mds.26688

  11. Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

    Movement Disorders

    Volume 31, Issue 4, April 2016, Pages: 436–457, Connie Marras, Anthony Lang, Bart P. van de Warrenburg, Carolyn M. Sue, Sarah J. Tabrizi, Lars Bertram, Saadet Mercimek-Mahmutoglu, Darius Ebrahimi-Fakhari, Thomas T. Warner, Alexandra Durr, Birgit Assmann, Katja Lohmann, Vladimir Kostic and Christine Klein

    Version of Record online : 15 APR 2016, DOI: 10.1002/mds.26527

  12. You have free access to this content
    Poster Presentations

    Movement Disorders

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

    Version of Record online : 12 JUN 2015, DOI: 10.1002/mds.26295

  13. You have free access to this content
    Childhood disorders of neurodegeneration with brain iron accumulation (NBIA)

    Developmental Medicine & Child Neurology

    Volume 53, Issue 5, May 2011, Pages: 394–404, MANJU A KURIAN, ALASDAIR MCNEILL, JEAN-PIERRE LIN and EAMONN R MAHER

    Version of Record online : 12 APR 2011, DOI: 10.1111/j.1469-8749.2011.03955.x

  14. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

    Movement Disorders

    Volume 27, Issue 6, May 2012, Pages: 789–793, Rita Horvath, Elke Holinski-Feder, Vivienne C.M. Neeve, Angela Pyle, Helen Griffin, Deephthi Ashok, Charlotte Foley, Gavin Hudson, Bernd Rautenstrauss PhD, Gudrun Nürnberg, Peter Nürnberg, Jörg Kortler, Birgit Neitzel, Ingelore Bäßmann, Thahira Rahman, Bernard Keavney, John Loughlin, Sophie Hambleton, Benedikt Schoser, Hanns Lochmüller, Mauro Santibanez-Koref and Patrick F. Chinnery

    Version of Record online : 16 APR 2012, DOI: 10.1002/mds.24980

  15. Central nervous system dysfunction in a mouse model of Fa2h deficiency

    Glia

    Volume 59, Issue 7, July 2011, Pages: 1009–1021, Kathleen A. Potter, Michael J. Kern, George Fullbright, Jacek Bielawski, Steven S. Scherer, Sabrina W. Yum, Jian J. Li, Hua Cheng, Xianlin Han, Jagadish Kummetha Venkata, P. Akbar Ali Khan, Bärbel Rohrer and Hiroko Hama

    Version of Record online : 13 APR 2011, DOI: 10.1002/glia.21172

  16. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 29, Issue S1, May 2014, Pages: S1–S571,

    Version of Record online : 6 JUN 2014, DOI: 10.1002/mds.25914

  17. Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis

    Clinical Genetics

    Volume 88, Issue 1, July 2015, Pages: 95–97, M. S. Zaki, L. Selim, L. Mansour, I. G. Mahmoud, A. G. Fenstermaker, S. B. Gabriel and J. G. Gleeson

    Version of Record online : 11 DEC 2014, DOI: 10.1111/cge.12516

  18. You have free access to this content
    Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)

    Human Mutation

    Volume 31, Issue 4, April 2010, Pages: E1251–E1260, Katherine J. Dick, Matthias Eckhardt, Coro Paisán-Ruiz, Aisha Alkhayat Alshehhi, Christos Proukakis, Naomi A. Sibtain, Helena Maier, Reza Sharifi, Michael A. Patton, Wafa Bashir, Roshan Koul, Sandy Raeburn, Volkmar Gieselmann, Henry Houlden and Andrew H. Crosby

    Version of Record online : 26 JAN 2010, DOI: 10.1002/humu.21205

  19. Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

    Clinical Genetics

    Volume 85, Issue 4, April 2014, Pages: 393–395, S. Donkervoort, J. Dastgir, Y. Hu, W.M. Zein, H. Marks, C. Blackstone and C.G. Bönnemann

    Version of Record online : 10 JUN 2013, DOI: 10.1111/cge.12185

  20. You have full text access to this OnlineOpen article
    Dystonic opisthotonus: A “red flag” for neurodegeneration with brain iron accumulation syndromes?

    Movement Disorders

    Volume 28, Issue 10, September 2013, Pages: 1325–1329, Maria Stamelou, Scarlett C. Lai, Annu Aggarwal, Susanne A. Schneider, Henry Houlden, Tu-Hsueh Yeh, Amit Batla, Chin-Song Lu, Mohit Bhatt and Kailash P. Bhatia

    Version of Record online : 4 JUN 2013, DOI: 10.1002/mds.25490