نتائج البحث - Camilo Toro
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Emerging molecular mechanisms of vascular dementia حسب Milagros Romay, Camilo Toro, M. Luisa Iruela‐Arispe
منشور في 2019Revisão -
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Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases حسب Connor Lewis, Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft
منشور في 2025Artigo -
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<i>DARS</i> -associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder حسب 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
منشور في 2014Artigo -
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Neurological manifestations of Erdheim–Chester Disease حسب 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
منشور في 2020Artigo -
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Lysosomal abnormalities in hereditary spastic paraplegia types <scp>SPG</scp> 15 and <scp>SPG</scp> 11 حسب 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
منشور في 2014Artigo -
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PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells حسب 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
منشور في 2019Artigo -
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Comprehensive Immunophenotyping of Cerebrospinal Fluid Cells in Patients with Neuroimmunological Diseases حسب 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
منشور في 2014Artigo -
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Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2 حسب 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
منشور في 2015Artigo -
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ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13 حسب 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
منشور في 2017Artigo -
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The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience حسب 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
منشور في 2014Artigo -
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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 حسب 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
منشور في 2015Artigo -
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Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophy حسب 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
منشور في 2018Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Medicine
Genetics
Gene
Pathology
Disease
Mutation
Internal medicine
Phenotype
Neuroscience
Cell biology
Immunology
Missense mutation
Exome sequencing
Biochemistry
Endocrinology
Psychiatry
Psychology
Allele
Bioinformatics
Anatomy
Ataxia
Chemistry
Dementia
Engineering
Hereditary spastic paraplegia
Immune system
Loss function
Magnetic resonance imaging
Medical genetics