نتائج البحث - Pierson, Tyler Mark

Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational brain anomalies حسب Shieh, Christine, Moser, Franklin, Graham, John M., Watiker, Valerie, Pierson, Tyler Mark

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Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy حسب Pierson, Tyler Mark, Bonnemann, Carsten G, Finkel, Richard S, Bunin, Nancy, Tennekoon, Gihan I

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Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A حسب Zhu, Peng-Peng, Denton, Kyle R., Pierson, Tyler Mark, Li, Xue-Jun, Blackstone, Craig

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Infantile-onset Spinal Muscular Atrophy with Respiratory Distress-1 diagnosed in twenty-year old man حسب Pierson, Tyler Mark, Tart, Gary, Adams, David, Toro, Camilo, Golas, Gretchen, Tifft, Cynthia, Gahl, William

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UNRELATED UMBILICAL CORD BLOOD TRANSPLANT FOR JUVENILE METACHROMATIC LEUKODYSTROPHY: A FIVE-YEAR FOLLOW-UP IN THREE AFFECTED SIBLINGS حسب Cable, Casey, Finkel, Richard S, Lehky, Tanya J, Biassou, Nadia M, Wiggs, Edythe A, Bunin, Nancy, Pierson, Tyler Mark

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Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy حسب Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.

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Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase حسب Pierson, Tyler Mark, Torres, Paola A., Zeng, Bei-Jin, Glanzman, Allan M., Adams, David, Finkel, Richard S., Mahuran, Don J., Pastores, Gregory M., Tennekoon, Gihan I., Kolodny, Edwin H.

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GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function حسب Chen, Wenjuan, Shieh, Christine, Swanger, Sharon A, Tankovic, Anel, Au, Margaret, McGuire, Marianne, Tagliati, Michele, Graham, John M, Madan-Khetarpal, Suneeta, Traynelis, Stephen F, Yuan, Hongjie, Pierson, Tyler Mark

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11 حسب Renvoisé, Benoît, Chang, Jaerak, Singh, Rajat, Yonekawa, Sayuri, FitzGibbon, Edmond J, Mankodi, Ami, Vanderver, Adeline, Schindler, Alice B, Toro, Camilo, Gahl, William A, Mahuran, Don J, Blackstone, Craig, Pierson, Tyler Mark

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Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy حسب Yuan, Hongjie, Hansen, Kasper B., Zhang, Jing, Pierson, Tyler Mark, Markello, Thomas C., Fuentes Fajardo, Karin V., Holloman, Conisha M., Golas, Gretchen, Adams, David R., Boerkoel, Cornelius F., Gahl, William A., Traynelis, Stephen F.

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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation حسب Tulli, Susanna, Del Bondio, Andrea, Baderna, Valentina, Mazza, Davide, Codazzi, Franca, Pierson, Tyler Mark, Ambrosi, Alessandro, Nolte, Dagmar, Goizet, Cyril, Toro, Camilo, Baets, Jonathan, Deconinck, Tine, DeJonghe, Peter, Mandich, Paola, Casari, Giorgio, Maltecca, Francesca

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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration حسب Pierson, Tyler Mark, Simeonov, Dimitre R, Sincan, Murat, Adams, David A, Markello, Thomas, Golas, Gretchen, Fuentes-Fajardo, Karin, Hansen, Nancy F, Cherukuri, Praveen F, Cruz, Pedro, Blackstone, Craig, Tifft, Cynthia, Boerkoel, Cornelius F, Gahl, William A

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Auditory analysis of xeroderma pigmentosum 1971–2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration حسب Totonchy, Mariam B., Tamura, Deborah, Pantell, Matthew S., Zalewski, Christopher, Bradford, Porcia T., Merchant, Saumil N., Nadol, Joseph, Khan, Sikandar G., Schiffmann, Raphael, Pierson, Tyler Mark, Wiggs, Edythe, Griffith, Andrew J., DiGiovanna, John J., Kraemer, Kenneth H., Brewer, Carmen C.

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TUBB4A de novo mutations cause isolated hypomyelination حسب Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Geneviève, Schiffmann, Raphael, Simons, Cas, Vanderver, Adeline

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GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine حسب Pierson, Tyler Mark, Yuan, Hongjie, Marsh, Eric D, Fuentes-Fajardo, Karin, Adams, David R, Markello, Thomas, Golas, Gretchen, Simeonov, Dimitre R, Holloman, Conisha, Tankovic, Anel, Karamchandani, Manish M, Schreiber, John M, Mullikin, James C, Tifft, Cynthia J, Toro, Camilo, Boerkoel, Cornelius F, Traynelis, Stephen F, Gahl, William A

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Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases حسب Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo

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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy حسب Otero, Maria G., Tiongson, Emmanuelle, Diaz, Frank, Haude, Katrina, Panzer, Karin, Collier, Ashley, Kim, Jaemin, Adams, David, Tifft, Cynthia J., Cui, Hong, Millian Zamora, Francisca, Au, Margaret G., Graham, John M., Buckley, David J., Lewis, Richard, Toro, Camilo, Bai, Renkui, Turner, Lesley, Mathews, Katherine D., Gahl, William, Pierson, Tyler Mark

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Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) حسب Pierson, Tyler Mark, Markello, Thomas, Accardi, John, Wolfe, Lynne, Adams, David, Sincan, Murat, Tarazi, Noor M., Fajardo, Karin Fuentes, Cherukuri, Praveen F., Bajraktari, Ilda, Meilleur, Katy G., Donkervoort, Sandra, Jain, Mina, Hu, Ying, Lehky, Tanya J., Cruz, Pedro, Mullikin, James C., Bonnemann, Carsten, Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.

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Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases حسب Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin for the NISC Comparative Sequencing Program, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony, Fuentes Fajardo, Karin, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas, Gahl, William A., Toro, Camilo

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The NIH Undiagnosed Diseases Program: Insights into Rare Diseases حسب Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Groden, Catherine, Godfrey, Rena, Nehrebecky, Michele, Wahl, Colleen, Landis, Dennis M. D., Yang, Sandra, Madeo, Anne, Mullikin, James C, Boerkoel, Cornelius F., Tifft, Cynthia J., Adams, David

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