Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy von Yuan, Hongjie, Hansen, Kasper B., Zhang, Jing, Mark Pierson, Tyler, Markello, Thomas C., Fajardo, Karin V. Fuentes, Holloman, Conisha M., Golas, Gretchen, Adams, David R., Boerkoel, Cornelius F., Gahl, William A., Traynelis, Stephen F.

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

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GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function von 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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Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases von 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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Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning von Abad, Clemer, Robayo, Maria C., Muñiz-Moreno, Maria del Mar, Bernardi, Maria T., Otero, Maria G., Kosanovic, Christina, Griswold, Anthony J., Pierson, Tyler Mark, Walz, Katherina, Young, Juan I.

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Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy von 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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Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase- associated neurodegeneration von TYLER MARK PIERSON, SIMEONOV, Dimitre R, MULLIKIN, James C, BLACKSTONE, Craig, TIFFT, Cynthia, BOERKOEL, Cornelius F, GAHL, William A, SINCAN, Murat, ADAMS, David A, MARKELLO, Thomas, GOLAS, Gretchen, FUENTES-FAJARDO, Karin, HANSEN, Nancy F, CHERUKURI, Praveen F, CRUZ, Pedro

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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis von MARK PIERSON, Tyler, ADAMS, David A, CRUZ, Pedro, TEER, Jamie K, MULLIKIN, James C, BOERKOEL, Cornelius F, GAHL, William A, TIFFT, Cynthia J, MARKELLO, Thomas, GOLAS, Gretchen, YANG, Sandra, SINCAN, Murat, SIMEONOV, Dimitre R, FUENTES FAJARDO, Karin, HANSEN, Nancy F, CHERUKURI, Praveen F

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De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder von Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.

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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) von 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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Modeling CLN6 with patient-derived IPS cells von Pierson, Tyler Mark

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases von 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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Human induced pluripotent stem cell models for CLN6 von Pierson, Tyler Mark, Kushwaha, Yogesh K., Otero, Maria Gabriela, Kenny, Phillip J., Nonis, Fabian David, Kim, Jaemin

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A neurodevelopmental disorder associated with an activating de novo missense variant in ARF1 von Ishida, Morié, Otero, María G, Freeman, Christina, Sánchez-Lara, Pedro A, Guardia, Carlos M, Pierson, Tyler Mark, Bonifacino, Juan S

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling von Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy von Schartner, Vanessa, Romero, Norma B., Donkervoort, Sandra, Treves, Susan, Munot, Pinki, Pierson, Tyler Mark, Dabaj, Ivana, Malfatti, Edoardo, Zaharieva, Irina T., Zorzato, Francesco, Abath Neto, Osorio, Brochier, Guy, Lornage, Xavière, Eymard, Bruno, Taratuto, Ana Lía, Böhm, Johann, Gonorazky, Hernan, Ramos-Platt, Leigh, Feng, Lucy, Phadke, Rahul, Bharucha-Goebel, Diana X., Sumner, Charlotte Jane, Bui, Mai Thao, Lacene, Emmanuelle, Beuvin, Maud, Labasse, Clémence, Dondaine, Nicolas, Schneider, Raphael, Thompson, Julie, Boland, Anne, Deleuze, Jean-François, Matthews, Emma, Pakleza, Aleksandra Nadaj, Sewry, Caroline A., Biancalana, Valérie, Quijano-Roy, Susana, Muntoni, Francesco, Fardeau, Michel, Bönnemann, Carsten G., Laporte, Jocelyn

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Functional effects of disease-associated variants reveal that the S1–M1 linker of the NMDA receptor critically controls channel opening von Xie, Lingling, McDaniel, Miranda J., Perszyk, Riley E., Kim, Sukhan, Cappuccio, Gerarda, Shapiro, Kevin A., Muñoz-Cabello, Beatriz, Sanchez-Lara, Pedro A., Grand, Katheryn, Zhang, Jing, Nocilla, Kelsey A., Sheikh, Rehan, Armengol, Lluis, Romano, Roberta, Pierson, Tyler Mark, Yuan, Hongjie, Myers, Scott J., Traynelis, Stephen F.

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Modeling CLN6 with IPSC-derived neural cells von Pierson, Tyler Mark, Otero, Maria Gabriella, Nonis, David Fabian, Kim, Jaemin

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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy von Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno

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De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor von Xu, Yuchen, Song, Rui, Perszyk, Riley E., Chen, Wenjuan, Kim, Sukhan, Park, Kristen L., Allen, James P., Nocilla, Kelsey A., Zhang, Jing, XiangWei, Wenshu, Tankovic, Anel, McDaniels, Ellington D., Sheikh, Rehan, Mizu, Ruth K., Karamchandani, Manish M., Hu, Chun, Kusumoto, Hirofumi, Pecha, Joseph, Cappuccio, Gerarda, Gaitanis, John, Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Jauss, Robin-Tobias, Lee, Hyun Kyung, Bozarth, Xiuhua, Lynch, David R., Helbig, Ingo, Pierson, Tyler Mark, Boerkoel, Cornelius F., Myers, Scott J., Lemke, Johannes R., Benke, Timothy A., Yuan, Hongjie, Traynelis, Stephen F.

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