Torthaí cuardaigh - Michael C. Kruer

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  1. 1
    The Neuropathology of Neurodegeneration with Brain Iron Accumulation

    The Neuropathology of Neurodegeneration with Brain Iron Accumulation de réir Michael C. Kruer

    Foilsithe / Cruthaithe 2013
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  2. 2
    Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm

    Neurodegeneration With Brain Iron Accumulation: A Diagnostic Algorithm de réir Michael C. Kruer, Nathalie Boddaert

    Foilsithe / Cruthaithe 2012
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  3. 3
    The genetic basis of cerebral palsy

    The genetic basis of cerebral palsy de réir Michael Fahey, Alastair H. MacLennan, Doris Kretzschmar, Jozef Gécz, Michael C. Kruer

    Foilsithe / Cruthaithe 2017
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  4. 4
    Variability in Cerebral Palsy Diagnosis

    Variability in Cerebral Palsy Diagnosis de réir Bhooma R. Aravamuthan, Darcy Fehlings, Sheetal Shetty, Michael Fahey, Laura Gilbert, Ann Tilton, Michael C. Kruer

    Foilsithe / Cruthaithe 2021
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  5. 5
    Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures

    Aggressive Course in Encephalitis With Opsoclonus, Ataxia, Chorea, and Seizures de réir Michael C. Kruer, Romana Hoeftberger, Kit Yeng Lim, Jason Coryell, Melissa Svoboda, Randall L. Woltjer, Josep Dalmau

    Foilsithe / Cruthaithe 2014
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  6. 6
    Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy

    Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy de réir Siddharth Srivastava, Sara A. Lewis, Julie S. Cohen, Bo Zhang, Bhooma R. Aravamuthan, Maya Chopra, Mustafa Şahin, Michael C. Kruer, Annapurna Poduri

    Foilsithe / Cruthaithe 2022
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  7. 7
    Insights From Genetic Studies of Cerebral Palsy

    Insights From Genetic Studies of Cerebral Palsy de réir Sara A. Lewis, Sheetal Shetty, Bryce A. Wilson, Aris J. Huang, Sheng Chih Jin, Hayley Smithers‐Sheedy, Michael Fahey, Michael C. Kruer

    Foilsithe / Cruthaithe 2021
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  8. 8
    NMDA RECEPTOR ENCEPHALITIS MIMICKING SERONEGATIVE NEUROMYELITIS OPTICA

    NMDA RECEPTOR ENCEPHALITIS MIMICKING SERONEGATIVE NEUROMYELITIS OPTICA de réir Michael C. Kruer, Thomas Koch, Dennis Bourdette, Dorothée Chabas, Emmanuelle Waubant, Susanne Mueller, M.A. Moscarello, Josep Dalmau, Randall L. Woltjer, Grazyna Adamus

    Foilsithe / Cruthaithe 2010
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  9. 9
    Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

    Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration de réir Michael C. Kruer, M. Hiken, Allison Gregory, Alessandro Malandrini, David G. Clark, P. Hogarth, Marjorie R. Grafe, Susan J. Hayflick, R. L. Woltjer

    Foilsithe / Cruthaithe 2011
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  10. 10
    Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

    Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation de réir Michael C. Kruer, Nathalie Boddaert, Susanne A. Schneider, Henry Houlden, Kailash P. Bhatia, Allison Gregory, James C. Anderson, William D. Rooney, Penelope Hogarth, Susan J. Hayflick

    Foilsithe / Cruthaithe 2011
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  11. 11
    Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature

    Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature de réir Abolfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola Paoli Monteiro, Fernando Kok, Anneke T. Vulto‐van Silfhout, Michael C. Kruer, Michael R. Bowl, Barbara Vona

    Foilsithe / Cruthaithe 2024
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  12. 12
    Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review

    Adults with Cerebral Palsy Require Ongoing Neurologic Care: A Systematic Review de réir Sarah E. Smith, Mary E. Gannotti, Edward A. Hurvitz, Frances E. Jensen, Linda E. Krach, Michael C. Kruer, Michael E. Msall, Garey Noritz, Deepa Rajan, Bhooma R. Aravamuthan

    Foilsithe / Cruthaithe 2021
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  13. 13
    Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies

    Paraneoplastic Neurological Syndromes and Glutamic Acid Decarboxylase Antibodies de réir Helena Ariño, Romana Höftberger, Núria Gresa‐Arribas, Eugenia Martínez‐Hernández, Thaís Armangué, Michael C. Kruer, Javier Arpa, Julio Domingo, Bojan Rojc, Luís Bataller, Albert Saiz, Josep Dalmau, Francesc Graus

    Foilsithe / Cruthaithe 2015
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  14. 14
    Identification of critical regions for clinical features of distal 10q deletion syndrome

    Identification of critical regions for clinical features of distal 10q deletion syndrome de réir S A Yatsenko, M.D. and Colin M. Roberts Michael C. Kruer, PI Bader, D Corzo, Jane L. Schuette, CE Keegan, Beata Nowakowska, Sandra Peacock, WW Cai, DA Peiffer, KL Gunderson, Zhishuo Ou, AC Chinault, SW Cheung

    Foilsithe / Cruthaithe 2009
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  15. 15
    Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

    Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease de réir Jennifer Hirst, James R. Edgar, Typhaine Esteves, Frédéric Darios, Marianna Madeo, Jaerak Chang, Ricardo H. Roda, Alexandra Dürr, Mathieu Anheim, Cinzia Gellera, Jun Li, Stephan Züchner, Caterina Mariotti, Giovanni Stévanin, Craig Blackstone, Michael C. Kruer, Margaret S. Robinson

    Foilsithe / Cruthaithe 2015
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  16. 16
    Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA)

    Defective <i>FA2H</i> leads to a novel form of neurodegeneration with brain iron accumulation (NBIA) de réir Michael C. Kruer, Coro Paisán‐Ruíz, Nathalie Boddaert, Moon Young Yoon, Hiroko Hama, Allison Gregory, Alessandro Malandrini, Randall L. Woltjer, Arnold Münnich, Stéphanie Gobin, Brenda J. Polster, Silvia Palmeri, Simon Edvardson, John Hardy, Henry Houlden, Susan J. Hayflick

    Foilsithe / Cruthaithe 2010
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  17. 17
    Mutations in gamma adducin are associated with inherited cerebral palsy

    Mutations in gamma adducin are associated with inherited cerebral palsy de réir Michael C. Kruer, Tyler Jepperson, Sudeshna Dutta, Robert D. Steiner, Ellen Cottenie, Lynn Sanford, Mark Merkens, Barry S. Russman, Peter A. Blasco, Guang Fan, Jeffrey M. Pollock, Sarah Green, Randall L. Woltjer, Catherine Mooney, Doris Kretzschmar, Coro Paisán‐Ruiz, Henry Houlden

    Foilsithe / Cruthaithe 2013
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  18. 18
    Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48)

    Complicated spastic paraplegia in patients with <i>AP5Z1</i> mutations (SPG48) de réir Jennifer Hirst, Marianna Madeo, Katrien Smets, James R. Edgar, Lüdger Schöls, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken, Jan De Bleecker, Manuel B. Datiles, Ricardo H. Roda, Joachim Liepert, Stephan Züchner, Caterina Mariotti, Peter De Jonghe, Craig Blackstone, Michael C. Kruer

    Foilsithe / Cruthaithe 2016
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  19. 19
    Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of antibodies

    Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: a case series, characterisation of the antigen, and analysis of the effects of anti... de réir Mar Petit‐Pedrol, Thaís Armangué, Xiaoyu Peng, Luís Bataller, Tania Cellucci, Rebecca Davis, Lindsey McCracken, Eugenia Martínez‐Hernández, Warren Mason, Michael C. Kruer, David G. Ritacco, Wolfgang Grisold, Brandon Meaney, Carmen Alcalá, Peter A.E. Sillevis-Smitt, Maarten J. Titulaer, Rita J. Balice‐Gordon, Francesc Graus, Josep Dalmau

    Foilsithe / Cruthaithe 2014
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  20. 20
    New NBIA subtype

    New NBIA subtype de réir Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry‐Kravis, Nicola Foulds, Simon Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay C. Reese, Randall L. Woltjer, Susan J. Hayflick

    Foilsithe / Cruthaithe 2012
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