Resultados de procura - Robak, Laurie

Mechanisms of CNS myelin inhibition: Evidence for distinct and neuronal cell type specific receptor systems por Giger, Roman J., Venkatesh, Karthik, Chivatakarn, Onanong, Raiker, Stephen J., Robak, Laurie, Hofer, Thomas, Lee, Hakjoo, Rader, Christoph

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Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease por Robak, Laurie A, Jansen, Iris E, van Rooij, Jeroen, Uitterlinden, André G, Kraaij, Robert, Jankovic, Joseph, Heutink, Peter, Shulman, Joshua M

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Synaptic Function for the Nogo-66 Receptor NgR1: Regulation of Dendritic Spine Morphology and Activity-Dependent Synaptic Strength por Lee, Hakjoo, Raiker, Stephen J., Venkatesh, Karthik, Geary, Rebecca, Robak, Laurie A., Zhang, Yu, Yeh, Hermes H., Shrager, Peter, Giger, Roman J.

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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila por Chao, Yu-Hsin, Robak, Laurie A., Xia, Fan, Koenig, Mary K., Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bellen, Hugo J., Wangler, Michael F.

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Molecular Basis of the Interactions of the Nogo-66 Receptor and Its Homolog NgR2 with Myelin-Associated Glycoprotein: Development of NgR(OMNI)-Fc, a Novel Antagonist of CNS Myelin... por Robak, Laurie A., Venkatesh, Karthik, Lee, Hakjoo, Raiker, Stephen J., Duan, Yuntao, Lee-Osbourne, Jane, Hofer, Thomas, Mage, Rose G., Rader, Christoph, Giger, Roman J.

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De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures por Assia Batzir, Nurit, Bhagwat, Pranjali K., Eble, Tanya N., Liu, Pengfei, Eng, Christine M., Elsea, Sarah H., Robak, Laurie A., Scaglia, Fernando, Goldman, Alica M., Dhar, Shweta U., Wangler, Michael F.

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A Novel De Novo Intronic Variant in ITPR1 Causes Gillespie Syndrome por Keehan, Laura, Jiang, Ming-Ming, Li, Xiaohui, Marom, Ronit, Dai, Hongzheng, Murdock, David, Liu, Pengfei, Hunter, Jill, Heaney, Jason D., Robak, Laurie, Emrick, Lisa, Lotze, Tim, Blieden, Lauren, Lewis, Richard Alan, Levin, Alex V., Capasso, Jenina, Craigen, William, Rosenfeld, Jill A., Lee, Brendan, Burrage, Lindsay C.

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Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease por Robak, Laurie A., Du, Renqian, Yuan, Bo, Gu, Shen, Alfradique-Dunham, Isabel, Kondapalli, Vismaya, Hinojosa, Evelyn, Stillwell, Amanda, Young, Emily, Zhang, Chaofan, Song, Xiaofei, Du, Haowei, Gambin, Tomasz, Jhangiani, Shalini N., Coban Akdemir, Zeynep, Muzny, Donna M., Tejomurtula, Anusha, Ross, Owen A., Shaw, Chad, Jankovic, Joseph, Bi, Weimin, Posey, Jennifer E., Lupski, James R., Shulman, Joshua M.

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Whole-Exome Sequencing in Familial Parkinson Disease por Farlow, Janice L., Robak, Laurie A., Hetrick, Kurt, Bowling, Kevin, Boerwinkle, Eric, Coban-Akdemir, Zeynep H., Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Porter, Paula, Pugh, Elizabeth, White, Janson, Doheny, Kimberly, Myers, Richard M., Shulman, Joshua M., Foroud, Tatiana

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Genome Sequencing in the Parkinson Disease Clinic por Hill, Emily J., Robak, Laurie A., Al-Ouran, Rami, Deger, Jennifer, Fong, Jamie C., Vandeventer, Paul Jerrod, Schulman, Emily, Rao, Sindhu, Saade, Hiba, Savitt, Joseph M., von Coelln, Rainer, Desai, Neeja, Doddapaneni, Harshavardhan, Salvi, Sejal, Dugan-Perez, Shannon, Muzny, Donna M., McGuire, Amy L., Liu, Zhandong, Gibbs, Richard A., Shaw, Chad, Jankovic, Joseph, Shulman, Lisa M., Shulman, Joshua M.

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation por Mao, Dongxue, Reuter, Chloe M., Ruzhnikov, Maura R.Z., Beck, Anita E., Farrow, Emily G., Emrick, Lisa T., Rosenfeld, Jill A., Mackenzie, Katherine M., Robak, Laurie, Wheeler, Matthew T., Burrage, Lindsay C., Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie A., Koenig, Mary K., Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan H., Thiffault, Isabelle, Agrawal, Pankaj B., Bernstein, Jonathan A., Bellen, Hugo J., Chao, Hsiao-Tuan

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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation por Yan, Kezhi, Rousseau, Justine, Littlejohn, Rebecca Okashah, Kiss, Courtney, Lehman, Anna, Rosenfeld, Jill A., Stumpel, Constance T.R., Stegmann, Alexander P.A., Robak, Laurie, Scaglia, Fernando, Nguyen, Thi Tuyet Mai, Fu, He, Ajeawung, Norbert F., Camurri, Maria Vittoria, Li, Lin, Gardham, Alice, Panis, Bianca, Almannai, Mohammed, Sacoto, Maria J. Guillen, Baskin, Berivan, Ruivenkamp, Claudia, Xia, Fan, Bi, Weimin, Cho, Megan T., Potjer, Thomas P., Santen, Gijs W.E., Parker, Michael J., Canham, Natalie, McKinnon, Margaret, Potocki, Lorraine, MacKenzie, Jennifer J., Roeder, Elizabeth R., Campeau, Philippe M., Yang, Xiang-Jiao

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NeuroChip, an updated version of the NeuroX genotyping platform to rapidly screen for variants associated with neurological diseases por Blauwendraat, Cornelis, Faghri, Faraz, Pihlstrom, Lasse, Geiger, Joshua T., Elbaz, Alexis, Lesage, Suzanne, Corvol, Jean-Christophe, May, Patrick, Nicolas, Aude, Abramzon, Yevgeniya, Murphy, Natalie A., Gibbs, J. Raphael, Ryten, Mina, Ferrari, Raffaele, Bras, Jose, Guerreiro, Rita, Williams, Julie, Sims, Rebecca, Lubbe, Steven, Hernandez, Dena G., Mok, Kin Y., Robak, Laurie, Campbell, Roy H., Rogaeva, Ekaterina, Traynor, Bryan J., Chia, Ruth, Chung, Sun Ju, Hardy, John A., Brice, Alexis, Wood, Nicholas W., Houlden, Henry, Shulman, Joshua M., Morris, Huw R., Gasser, Thomas, Krüger, Rejko, Heutink, Peter, Sharma, Manu, Simón-Sánchez, Javier, Nalls, Mike A., Singleton, Andrew B., Scholz, Sonja W.

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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management por Meng, Linyan, Pammi, Mohan, Saronwala, Anirudh, Magoulas, Pilar, Ghazi, Andrew Ray, Vetrini, Francesco, Zhang, Jing, He, Weimin, Dharmadhikari, Avinash V., Qu, Chunjing, Ward, Patricia, Braxton, Alicia, Narayanan, Swetha, Ge, Xiaoyan, Tokita, Mari J., Santiago-Sim, Teresa, Dai, Hongzheng, Chiang, Theodore, Smith, Hadley, Azamian, Mahshid S., Robak, Laurie, Bostwick, Bret L., Schaaf, Christian P., Potocki, Lorraine, Scaglia, Fernando, Bacino, Carlos A., Hanchard, Neil A., Wangler, Michael F., Scott, Daryl, Brown, Chester, Hu, Jianhong, Belmont, John W., Burrage, Lindsay C., Graham, Brett H., Sutton, Vernon Reid, Craigen, William J., Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Muzny, Donna M., Miller, Marcus J., Wang, Xia, Leduc, Magalie S., Xiao, Rui, Liu, Pengfei, Shaw, Chad, Walkiewicz, Magdalena, Bi, Weimin, Xia, Fan, Lee, Brendan, Eng, Christine, Yang, Yaping, Lalani, Seema R.

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability por Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Prescott, Trine E., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Quinquis, Delphine, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Elgersma, Ype, Mercier, Sandra

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Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability por Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R., Sanders, Stephan J., Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S., Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H., Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T., Humberson, Jennifer B., Robak, Laurie, Scott, Daryl A., Sutton, Vernon R., Skraban, Cara M., Johnston, Jennifer J., Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H., Bongers, Ernie M.H.F., Gilissen, Christian, Zarate, Yuri A., Kvarnung, Malin, Lally, Kevin P., Kulch, Peggy A., Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R., Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M., Klee, Eric W., Sapp, Julie C., Zyskind, Jacob, Holla, Øystein L., Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L., Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N., Dewan, Tammie, Coban Akdemir, Zeynep H., Telegrafi, Aida, Zackai, Elaine H., Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M., Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I., Pichurin, Pavel N., Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L., Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G., Lowenstein, Dan, Posey, Jennifer E., Denommé-Pichon, Anne-Sophie, Férec, Claude, Yang, Xiang-Jiao, Rosenfeld, Jill A., Gilbert-Dussardier, Brigitte, Audebert-Bellanger, Séverine, Redon, Richard, Stessman, Holly A.F., Nellaker, Christoffer, Yang, Yaping, Lupski, James R., Goldstein, David B., Eichler, Evan E., Bolduc, Francois, Bézieau, Stéphane, Küry, Sébastien, Campeau, Philippe M.

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