檢索結果 - Camilo Toro

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  1. 1
    The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

    The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment 由 Camilo Toro, Mosufa Zainab, Cynthia J. Tifft

    出版 2021
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  2. 2
    Simple motor tics may be preceded by a premotor potential.

    Simple motor tics may be preceded by a premotor potential. 由 Barbara I. Karp, S Porter, Camilo Toro, Mark Hallett

    出版 1996
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  3. 3
    Emerging molecular mechanisms of vascular dementia

    Emerging molecular mechanisms of vascular dementia 由 Milagros Romay, Camilo Toro, M. Luisa Iruela‐Arispe

    出版 2019
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  4. 4
    Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases

    Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases 由 Connor Lewis, Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft

    出版 2025
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  5. 5
    Locating the Motor Cortex on the MRI with Transcranial Magnetic Stimulation and PET

    Locating the Motor Cortex on the MRI with Transcranial Magnetic Stimulation and PET 由 Eric M. Wassermann, Binseng Wang, Thomas A. Zeffiro, Norihiro Sadato, A. Pascual–Leone, Camilo Toro, Mark Hallett

    出版 1996
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  6. 6
    Validation of digital spiral analysis as outcome parameter for clinical trials in essential tremor

    Validation of digital spiral analysis as outcome parameter for clinical trials in essential tremor 由 Dietrich Haubenberger, Daniel Kalowitz, Fatta B. Nahab, Camilo Toro, Dominic Ippolito, David A. Luckenbaugh, Loretta Wittevrongel, Mark Hallett

    出版 2011
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  7. 7
    MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia

    MRI Characteristics of Globus Pallidus Infarcts in Isolated Methylmalonic Acidemia 由 Eva H. Baker, Jennifer L. Sloan, Natalie Hauser, Andrea Gropman, Dan Adams, Camilo Toro, Irini Manoli, Charles P. Venditti

    出版 2014
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  8. 8
    Chediak-Higashi syndrome: A review of the past, present, and future

    Chediak-Higashi syndrome: A review of the past, present, and future 由 Prashant Sharma, Elena‐Raluca Nicoli, Jenny Serra‐Vinardell, Marie Morimoto, Camilo Toro, May Christine V. Malicdan, Wendy J. Introne

    出版 2019
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  9. 9
    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine 由 William A. Gahl, John J. Mulvihill, Camilo Toro, Thomas C. Markello, Anastasia L. Wise, Rachel Ramoni, David R. Adams, Cynthia J. Tifft

    出版 2016
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  10. 10
    Detecting false-positive signals in exome sequencing

    Detecting false-positive signals in exome sequencing 由 Karin V. Fuentes Fajardo, David R. Adams, Christopher E. Mason, Murat Sincan, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, William A. Gahl, Thomas C. Markello

    出版 2012
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  11. 11
    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

    <i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder 由 Nicole I. Wolf, Camilo Toro, Ilya Kister, Kartikasalwah Abd Latif, Richard J. Leventer, Amy Pizzino, Cas Simons, Truus E. M. Abbink, Ryan J. Taft, Marjo S. van der Knaap, Adeline Vanderver

    出版 2014
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  12. 12
    Neurological manifestations of Erdheim–Chester Disease

    Neurological manifestations of Erdheim–Chester Disease 由 Louisa C. Boyd, Kevin O’Brien, Neval Özkaya, Tanya Lehky, Avner Meoded, Bernadette R. Gochuico, Fady Hannah‐Shmouni, Avindra Nath, Camilo Toro, William A. Gahl, Juvianee Estrada‐Veras, Rahul Dave

    出版 2020
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  13. 13
    Lysosomal abnormalities in hereditary spastic paraplegia types <scp>SPG</scp> 15 and <scp>SPG</scp> 11

    Lysosomal abnormalities in hereditary spastic paraplegia types <scp>SPG</scp> 15 and <scp>SPG</scp> 11 由 Benoît Renvoisé, Jaerak Chang, Rajat Singh, Sayuri Yonekawa, Edmond J. FitzGibbon, Ami Mankodi, Adeline Vanderver, Alice B. Schindler, Camilo Toro, William A. Gahl, Don J. Mahuran, Craig Blackstone, Tyler Mark Pierson

    出版 2014
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  14. 14
    PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells

    PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells 由 Masato Mashimo, Xiangning Bu, Kazumasa Aoyama, Jiro Kato, Hiroko Ishiwata-Endo, Linda A. Stevens, Atsushi Kasamatsu, Lynne A. Wolfe, Camilo Toro, David R. Adams, Thomas C. Markello, William A. Gahl, Joel Moss

    出版 2019
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  15. 15
    Comprehensive Immunophenotyping of Cerebrospinal Fluid Cells in Patients with Neuroimmunological Diseases

    Comprehensive Immunophenotyping of Cerebrospinal Fluid Cells in Patients with Neuroimmunological Diseases 由 Sungpil Han, Yen Chih Lin, Tianxia Wu, Alan D. Salgado, Ina Mexhitaj, Simone C. Wuest, Elena Romm, Joan Ohayon, Raphaela Goldbach‐Mansky, Adeline Vanderver, Adriana Marques, Camilo Toro, Peter R. Williamson, Irene Cortese, Bibiana Bielekova

    出版 2014
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  16. 16
    Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2

    Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2 由 Nyamkhishig Sambuughin, Lev G. Goldfarb, Tatiana Sivtseva, Т.К. Давыдова, Vsevolod A. Vladimirtsev, Vladimir L. Osakovskiy, A. P. Danilova, Raisa S. Nikitina, Anastasia N. Ylakhova, Margarita P. Diachkovskaya, Anna Sundborger, Neil Renwick, F.A. Platonov, Jenny E. Hinshaw, Camilo Toro

    出版 2015
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  17. 17
    ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13

    ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 由 Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie V. Maduro, John Accardi, Camilo Toro, Cornelius F. Boerkoel, Karen M. Lyons, William A. Gahl, Xiaohong Duan, May Christine V. Malicdan, Shuo Lin

    出版 2017
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  18. 18
    The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

    The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience 由 Lauren Lawrence, Murat Sincan, Thomas C. Markello, David R. Adams, Fred A. Gill, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Dennis M.D. Landis, Michele Nehrebecky, Grace Park, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Colleen E. Wahl, Lynne A. Wolfe, William A. Gahl, Cornelius F. Boerkoel

    出版 2014
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  19. 19
    Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

    Mutations in human homologue of chicken<i>talpid3</i>gene (<i>KIAA0586</i>) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes 由 May Christine V. Malicdan, Thierry Vilboux, Joshi Stephen, Dino Maglic, Luhe Mian, Daniel Konzman, Jennifer Guo, Deniz Yildirimli, Joy Bryant, Roxanne Fischer, Wadih M. Zein, Joseph Snow, Meghana Vemulapalli, James C. Mullikin, Camilo Toro, Benjamin D. Solomon, John E. Niederhuber, William A. Gahl, Meral Gunay‐Aygun

    出版 2015
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  20. 20
    Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy

    Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy 由 Payam Mohassel, Océane Landon‐Cardinal, A. Reghan Foley, Sandra Donkervoort, Katherine Pak, Colleen E. Wahl, Robert T. Shebert, Amy Harper, Pierre Fequiere, Matthew N. Meriggioli, Camilo Toro, Daniel B. Drachman, Yves Allenbach, Olivier Benvéniste, Anthony Béhin, B. Eymard, Pascal Laforêt, Tanya Stojkovic, Andrew L. Mammen, Carsten G. Bönnemann

    出版 2018
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