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There are 1140450 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

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

  2. 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

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

    Journal of Neuroimaging

    Lázaro L. F. Amaral, Santhosh Gaddikeri, Philip R. Chapman, Rasmoni Roy, Ramya S. Gaddikeri, Victor Hugo Marussi and Asim K. Bag

    Article first published online : 24 DEC 2014, DOI: 10.1111/jon.12195

  4. SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 150B, Issue 7, 5 October 2009, Pages: 984–992, Hanna Örlén, Atle Melberg, Raili Raininko, Eva Kumlien, Miriam Entesarian, Per Söderberg, Magnus Påhlman, Niklas Darin, Mårten Kyllerman, Eva Holmberg, Henry Engler, Urban Eriksson and Niklas Dahl

    Article first published online : 4 FEB 2009, DOI: 10.1002/ajmg.b.30928

  5. Secondary Dystonias

    Hyperkinetic Movement Disorders: Differential Diagnosis and Treatment

    Alberto Albanese, Joseph Jankovic, Pages: 135–145, 2012

    Published Online : 24 FEB 2012, DOI: 10.1002/9781444346183.ch9

  6. 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

    Article first published online : 17 SEP 2010, DOI: 10.1002/ana.22122

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    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

    Article first published online : 12 APR 2011, DOI: 10.1111/j.1469-8749.2011.03955.x

  8. Hereditary parkinsonism: Parkinson disease look-alikes—An algorithm for clinicians to “PARK” genes and beyond

    Movement Disorders

    Volume 24, Issue 14, 30 October 2009, Pages: 2042–2058, Christine Klein, Susanne A. Schneider and Anthony E. Lang

    Article first published online : 4 SEP 2009, DOI: 10.1002/mds.22675

  9. 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

    Article first published online : 12 AUG 2013, DOI: 10.1002/humu.22378

  10. You have free access to this content
    Poster Presentations

    Movement Disorders

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

    Article first published online : 6 JUN 2014, DOI: 10.1002/mds.25914

  11. Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

    Movement Disorders

    Volume 26, Issue 3, 15 February 2011, Pages: 553–556, Arianna Guidubaldi, Carla Piano, Filippo M. Santorelli, Gabriella Silvestri, Martina Petracca, Alessandra Tessa and Anna Rita Bentivoglio

    Article first published online : 4 MAR 2011, DOI: 10.1002/mds.23552

  12. PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 159B, Issue 2, March 2012, Pages: 183–191, Chin-Song Lu, Szu-Chia Lai, Ruey-Meei Wu, Yi-Hsin Weng, Chia-Ling Huang, Rou-Shayn Chen, Hsiu-Chen Chang, Yah-Huei Wu-Chou and Tu-Hsueh Yeh

    Article first published online : 27 DEC 2011, DOI: 10.1002/ajmg.b.32012

  13. Milestones in atypical and secondary Parkinsonisms

    Movement Disorders

    Volume 26, Issue 6, May 2011, Pages: 1083–1095, Gregor K. Wenning, Irene Litvan and Eduardo Tolosa

    Article first published online : 27 MAY 2011, DOI: 10.1002/mds.23713

  14. You have free access to this content
    Poster Presentations

    Movement Disorders

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

    Article first published online : 19 JUN 2012, DOI: 10.1002/mds.25051

  15. Milestones in dystonia

    Movement Disorders

    Volume 26, Issue 6, May 2011, Pages: 1106–1126, Laurie J. Ozelius, Naomi Lubarr and Susan B. Bressman

    Article first published online : 27 MAY 2011, DOI: 10.1002/mds.23775

  16. 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

  17. Lewy Bodies in Conditions other than Disorders of α-Synuclein

    Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders, Second Edition

    Coro Paisán-Ruiz, Laura Parkkinen, Tamas Revesz, Pages: 238–241, 2011

    Published Online : 21 SEP 2011, DOI: 10.1002/9781444341256.ch23

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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

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    VAR-MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance

    Human Mutation

    Volume 33, Issue 4, April 2012, Pages: 593–598, Murat Sincan, Dimitre R Simeonov, David Adams, Thomas C. Markello, Tyler M. Pierson, Camilo Toro, William A. Gahl and Cornelius F. Boerkoel

    Article first published online : 24 FEB 2012, DOI: 10.1002/humu.22034

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    Revisiting genotype–phenotype overlap in neurogenetics: Triplet-repeat expansions mimicking spastic paraplegias

    Human Mutation

    Volume 33, Issue 9, September 2012, Pages: 1315–1323, Conceição Bettencourt, Beatriz Quintáns, Raquel Ros, Israel Ampuero, Zuleima Yáñez, Samuel Ignacio Pascual, Justo García de Yébenes and María-Jesús Sobrido

    Article first published online : 16 JUL 2012, DOI: 10.1002/humu.22148