檢索結果 - Allison Gregory

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  1. 1
    Genetics of Neurodegeneration with Brain Iron Accumulation

    Genetics of Neurodegeneration with Brain Iron Accumulation 由 Allison Gregory, Susan J. Hayflick

    出版 2011
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  2. 2
    Clinical and genetic delineation of neurodegeneration with brain iron accumulation

    Clinical and genetic delineation of neurodegeneration with brain iron accumulation 由 Allison Gregory, Brenda J. Polster, Susan J. Hayflick

    出版 2008
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  3. 3
    Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation

    Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation 由 Jae‐Hyeok Lee, Ji Young Yun, Allison Gregory, Penelope Hogarth, Susan J. Hayflick

    出版 2020
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  4. 4
    Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration

    Consensus clinical management guideline for beta‐propeller protein‐associated neurodegeneration 由 Jenny L. Wilson, Allison Gregory, Manju A. Kurian, Ittai Bushlin, Fanny Mochel, Lisa Emrick, Laura Adang, Penelope Hogarth, Susan J. Hayflick

    出版 2021
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  5. 5
    Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

    Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome) 由 Robert A. Egan, Richard G. Weleber, Penelope Hogarth, Allison Gregory, Jason Coryell, Shawn K. Westaway, Jane Gitschier, Soma Das, Susan J. Hayflick

    出版 2005
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  6. 6
    T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

    T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation 由 A. McNeill, Daniel Birchall, Susan J. Hayflick, Allison Gregory, Joachim Schenk, Earl A. Zimmerman, Huifang Shang, Hiroaki Miyajima, Patrick F. Chinnery

    出版 2008
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  7. 7
    Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

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

    出版 2011
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  8. 8
    Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation

    Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation 由 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

    出版 2011
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  9. 9
    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN)

    Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN) 由 Penelope Hogarth, Manju A. Kurian, Allison Gregory, Barbara Csányi, Tamara Zagustin, Tomasz Kmieć, Patricia M. Wood, Angelika Klucken, Natale A. Scalise, Francesca Sofia, Thomas Klopstock, Giovanna Zorzi, Nardo Nardocci, Susan J. Hayflick

    出版 2016
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  10. 10
    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) 由 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

    出版 2010
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  11. 11
    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub>

    Neurodegeneration associated with genetic defects in phospholipase A <sub>2</sub> 由 Allison Gregory, S. K. Westaway, Ida E. Holm, Paul T. Kotzbauer, P. Hogarth, Scott Sonek, Jason Coryell, Thuy Minh Nguyen, Nardo Nardocci, Giovanna Zorzi, Diana Rodriguez, Isabelle Desguerre, Enrico Bertini, Alessandro Simonati, Barbara Levinson, Cristina Dias, Clara Barbot, Inês Carrilho, Mariline Santos, Ibrahim Malik, Jane Gitschier, S. J. Hayflick

    出版 2008
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  12. 12
    New NBIA subtype

    New NBIA subtype 由 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

    出版 2012
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  13. 13
    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation

    Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation 由 Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, P Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan J. Hayflick, Ivan Gout, Valeria Tiranti

    出版 2013
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  14. 14
    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

    Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN) 由 Allison Gregory, Mitesh Lotia, Suh Young Jeong, Rachel Fox, Dolly Zhen, Lynn Sanford, Jeff Hamada, Amir Jahić, Christian Beetz, Alison Freed, Manju A. Kurian, Thomas Cullup, Marlous C. M. van der Weijden, Vy Nguyen, Naly Setthavongsack, Daphne Garcia, Victoria Krajbich, Thao Pham, Randy Woltjer, Benjamin P. George, Kelly Q. Minks, Alexander Paciorkowski, Penelope Hogarth, Joseph Jankovic, Susan J. Hayflick

    出版 2019
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  15. 15
    4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of <scp>PKAN</scp>

    4′‐Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of <scp>PKAN</scp> 由 Suh Young Jeong, Penelope Hogarth, Andrew T. Placzek, Allison Gregory, Rachel Fox, Dolly Zhen, Jeffrey Hamada, Marianne van der Zwaag, Roald A. Lambrechts, Haihong Jin, Aaron Nilsen, Jared Cobb, Thao Pham, Nora E. Gray, Martina Ralle, Megan Duffy, Leila K. Schwanemann, Puneet Rai, Alison Freed, Katrina Wakeman, Randall L. Woltjer, Ody C.M. Sibon, Susan J. Hayflick

    出版 2019
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  16. 16
    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron 由 Neil V. Morgan, Shawn K. Westaway, Jenny E.V. Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangül, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. Johnson, Barbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan J. Hayflick

    出版 2006
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  17. 17
    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

    Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA 由 Tobias B. Haack, Penelope Hogarth, Michael C. Kruer, Allison Gregory, Thomas Wieland, Thomas Schwarzmayr, Elisabeth Graf, Lynn Sanford, Esther Meyer, Eleanna Kara, Stephan M. Cuno, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Delphine Héron, Cyril Mignot, Barbara Garavaglia, Kailash P. Bhatia, John Hardy, Tim M. Strom, Nathalie Boddaert, Henry Houlden, Manju A. Kurian, Thomas Meitinger, Holger Prokisch, Susan J. Hayflick

    出版 2012
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  18. 18
    Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

    Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation 由 Susan J. Hayflick, Michael C. Kruer, Allison Gregory, Tobias B. Haack, Manju A. Kurian, Henry Houlden, James C. Anderson, Nathalie Boddaert, Lynn Sanford, Sami I. Harik, Vasuki Dandu, Nardo Nardocci, Giovanna Zorzi, Todd Dunaway, Mark A. Tarnopolsky, Steven A. Skinner, Kenton R. Holden, Steven J. Frucht, Era Hanspal, Connie Schrander‐Stumpel, Cyril Mignot, Delphine Héron, Dawn E. Saunders, Margaret Kaminska, Jean‐Pierre Lin, Karine Lascelles, Stephan M. Cuno, Esther Meyer, Barbara Garavaglia, Kailash P. Bhatia, Rajith de Silva, Sarah Crisp, Peter Lunt, Martyn Carey, John Hardy, Thomas Meitinger, Holger Prokisch, Penelope Hogarth

    出版 2013
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  19. 19
    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

    Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia 由 Karin Tuschl, Esther Meyer, Leonardo E. Valdivia, Ningning Zhao, Chris Dadswell, Alaa Abdul‐Sada, Christina Hung, Michael A. Simpson, W.K. Chong, Thomas S. Jacques, Randy Woltjer, Simon Eaton, Allison Gregory, Lynn Sanford, Eleanna Kara, Henry Houlden, Stephan M. Cuno, Holger Prokisch, Lorella Valletta, Valeria Tiranti, Rasha Younis, Eamonn Maher, John Spencer, Ania Straatman‐Iwanowska, Paul Gissen, Laila Selim, Guillem Pintos‐Morell, Wifredo Coroleu-Lletget, Shekeeb S. Mohammad, Sangeetha Yoganathan, Russell C. Dale, Maya Thomas, Jason Rihel, Olaf A. Bodamer, Caroline Enns, Susan J. Hayflick, Peter T. Clayton, Philippa B. Mills, Manju A. Kurian, Stephen W. Wilson

    出版 2016
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  20. 20
    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

    MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder 由 Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek‐Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas‐Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben‐Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter M. Anderson, Marcus Annable, Elizabeth Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Lyn P. Santos‐Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Yi Qian

    出版 2016
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