المؤلفون: Park, Ji-Won, Choi, Tae-Ik, Kim, Tae-Yoon, Lee, Yu-Ri, Don, Dilan Wellalage, George-Abraham, Jaya K., Robak, Laurie A., Trandafir, Cristina C., Liu, Pengfei, Rosenfeld, Jill A., Kim, Tae Hyeong, Petit, Florence, Kim, Yoo-Mi, Cheon, Chong Kun, Lee, Yoonsung, Kim, Cheol-Hee

المساهمون: Pusan National University Hospital, Wellcome Trust, Korea Ministry of Science and ICT, Korea Disease Control and Prevention Agency

المصدر: Journal of Genetics and Genomics ; volume 51, issue 12, page 1389-1403 ; ISSN 1673-8527

الاتاحة: https://doi.org/10.1016/j.jgg.2024.09.016
https://api.elsevier.com/content/article/PII:S1673852724002546?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1673852724002546?httpAccept=text/plain

المؤلفون: Brooks, Dan, Mizerik, Elizabeth, Vossaert, Liesbeth, Lalani, Seema, Weisz-Hubshman, Monika, Potocki, Lorraine, Robak, Laurie

المصدر: Genetics in Medicine Open ; volume 2, page 101785 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2024.101785
https://api.elsevier.com/content/article/PII:S2949774424009312?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774424009312?httpAccept=text/plain

المؤلفون: Mao, Dongxue, Reuter, Chloe, Ruzhnikov, Maura, Beck, Anita, Farrow, Emily, Emrick, Lisa, Rosenfeld, Jill, Mackenzie, Katherine, Robak, Laurie, Wheeler, Matthew, Burrage, Lindsay, Jain, Mahim, Liu, Pengfei, Calame, Daniel, Küry, Sébastien, Sillesen, Martin, Schmitz-Abe, Klaus, Tonduti, Davide, Spaccini, Luigina, Iascone, Maria, Genetti, Casie, Koenig, Mary, Graf, Madeline, Tran, Alyssa, Alejandro, Mercedes, Lee, Brendan, Thiffault, Isabelle, Agrawal, Pankaj, Bernstein, Jonathan, Bellen, Hugo, Chao, Hsiao-Tuan

المصدر: American Journal of Human Genetics. 106(4)

مصطلحات موضوعية: EIF2S1, EIF2α, abnormal myelination, cognitive impairment, febrile illnesses, hypomyelination, hypotonia, integrated stress response, movement disorders, regression, Adolescent, Ataxia, Child, Child, Preschool, Developmental Disabilities, Female, Genetic Variation, Hereditary Central Nervous System Demyelinating Diseases, Humans, Infant, Leukoencephalopathies, Male, Nervous System Malformations, White Matter, eIF-2 Kinase

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3xx673sg
https://escholarship.org/content/qt3xx673sg/qt3xx673sg.pdf

المؤلفون: Bandres‐Ciga, Sara, Saez‐Atienzar, Sara, Bonet‐Ponce, Luis, Billingsley, Kimberley, Vitale, Dan, Blauwendraat, Cornelis, Gibbs, Jesse Raphael, Pihlstrøm, Lasse, Gan‐Or, Ziv, Noyce, Alastair J, Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Morris, Huw R, Plun‐Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Bras, Jose, Quinn, John, Mok, Kin Y, Kinghorn, Kerri J, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, RņBibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott‐Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean‐Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, SimɃn‐Sȥnchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R, Craig, David W, Faghri, Faraz, Gibbs, J Raphael, Hernandez, Dena G, Van Keuren‐Jensen, Kendall, Shulman, Joshua M, Iwaki, Hirotaka, Leonard, Hampton L, Nalls, Mike A, Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E, Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W, Reed, Xylena, Alcalay, Roy N, Rouleau, Guy A, Hilten, Jacobus J, Marinus, Johan, Adarmes‐GɃmez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesɐs Alberto Bergareche, Bernal‐Bernal, Inmaculada, Blazquez, Marta, Bonilla‐Toribio, Marta, Botȷa, Juan A, Boungiorno, Marȷa Teresa, Buiza‐Rueda, Dolores, Cȥmara, Ana, Carrillo, Fȥtima, CarriɃn‐Claro, Mario, Cerdan, Debora, ClarimɃn, Jordi, Compta, Yaroslau, Casa, Beatrȷz, Diez‐Fairen, Monica, Dols‐Icardo, Oriol, Duarte, Jacinto

المصدر: Movement Disorders. 34(4)

مصطلحات موضوعية: Parkinson's Disease, Human Genome, Genetics, Neurosciences, Brain Disorders, Prevention, Neurodegenerative, Genetic Testing, 2.3 Psychological, social and economic factors, 2.1 Biological and endogenous factors, Aetiology, Decent Work and Economic Growth, Endocytosis, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mendelian Randomization Analysis, Parkinson Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Risk Factors, International Parkinson's Disease Genomics Consortium, Parkinson's disease, endocytosis, genetic risk, heritability, polygenic risk score, Clinical Sciences, Human Movement and Sports Sciences, Neurology & Neurosurgery

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9r0473md

المؤلفون: 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 MHF, 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, CAUSES Study, 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

المصدر: American journal of human genetics. 104(3)

مصطلحات موضوعية: CAUSES Study, Deciphering Developmental Disorders study, Humans, Syndrome, Adaptor Proteins, Signal Transducing, Nuclear Proteins, Prognosis, Autistic Disorder, Amino Acid Sequence, Sequence Homology, Mutation, Missense, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Genetic Association Studies, Intellectual Disability, TRRAP, autism spectrum disorder, congenital malformations, de novo variants, histone acetylation, intellectual disability, neurodevelopmental disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, Genetics, Brain Disorders, Neurosciences, Mental Health, Autism, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Mental health, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4cf0w8wv

المؤلفون: Kin Chau, Matthew Hoi, Mizerik, Elizabeth, Robak, Laurie, Liu, Pengfei, Vossaert, Liesbeth, Owen, Nichole

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100486 ; ISSN 2949-7744

الاتاحة: http://dx.doi.org/10.1016/j.gimo.2023.100486
https://api.elsevier.com/content/article/PII:S2949774423004867?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2949774423004867?httpAccept=text/plain

المؤلفون: Küry, Sébastien, van Woerden, Geeske M, Besnard, Thomas, Onori, Martina Proietti, Latypova, Xénia, Towne, Meghan C, Cho, Megan T, Prescott, Trine E, Ploeg, Melissa A, Sanders, Stephan, Stessman, Holly AF, 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 WM, 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 LI, 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 AL, 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 ELM, Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M, Dubourg, Christèle, Network, Undiagnosed Diseases, Tan, Wen-Hann, Verbeek, Nienke E, Granzow, Martin, Santen, Gijs WE, Shendure, Jay, Isidor, Bertrand, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W, Kleefstra, Tjitske, Cogné, Benjamin, HUGO, GEM, Study, Deciphering Developmental Disorders, Petrovski, Slavé, Retterer, Kyle

المصدر: American Journal of Human Genetics. 101(5)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Genetics, Intellectual and Developmental Disabilities (IDD), Pediatric, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, 2.1 Biological and endogenous factors, Neurological, Animals, Brain, Calcium-Calmodulin-Dependent Protein Kinase Type 2, Cell Line, Exome, Female, Glutamic Acid, HEK293 Cells, Humans, Intellectual Disability, Male, Mice, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Undiagnosed Diseases Network, GEM HUGO, Deciphering Developmental Disorders Study, AMPAR, CAMK2, CAMK2A, CAMK2B, NMDAR, de novo mutations, intellectual disability, synaptic plasticity, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9gc6k2mk

المؤلفون: 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

المصدر: Neurology. Genetics ; 8 ; 4 ; e200002 ; United States

Relation: Neurology. Genetics; http://hdl.handle.net/10713/19305

الاتاحة: http://hdl.handle.net/10713/19305
https://doi.org/10.1212/NXG.0000000000200002

المؤلفون: Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler‐Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, Prontera, Paolo, Verrotti di Pianella, Alberto, Di Cara, Giuseppe, Garavelli, Livia, Caraffi, Stefano Giuseppe, Fusco, Carlo, Zuntini, Roberta, Parks, Kendall C., Sherr, Elliott H., Hashem, Mais O., Maddirevula, Sateesh, Alkuraya, Fowzan S., Contractar, Isphana A. F., Neil, Jennifer E., Walsh, Christopher A., Bellen, Hugo J., Chao, Hsiao‐Tuan, Clark, Robin D., Mirzaa, Ghayda M.

المساهمون: Burroughs Wellcome Fund, Howard Hughes Medical Institute, National Institute of Neurological Disorders and Stroke

المصدر: Annals of Clinical and Translational Neurology ; volume 9, issue 8, page 1276-1288 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51629
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51629
https://onlinelibrary.wiley.com/doi/full-xml/10.1002/acn3.51629

المؤلفون: Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A. Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E., Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A., Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J., Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice

المصدر: Science ; volume 386, issue 6721, page 516-525 ; ISSN 0036-8075 1095-9203

الاتاحة: http://dx.doi.org/10.1126/science.adp8721
https://www.science.org/doi/pdf/10.1126/science.adp8721

المؤلفون: Vuocolo, Blake, German, Ryan J., Lalani, Seema R., Murali, Chaya N., Bacino, Carlos A., Baskin, Stephanie, Littlejohn, Rebecca, Odom, John D., McLean, Scott, Schmid, Carrie, Nutter, Morgan, Stuebben, Melissa, Magness, Emily, Juarez, Olivia, El Achi, Dina, Mitchell, Bailey, Glinton, Kevin E., Robak, Laurie, Nagamani, Sandesh C.S., Saba, Lisa, Ritenour, Adasia, Zhang, Lilei, Streff, Haley, Chan, Katie, Kemere, K. Jordan, Carter, Kent, Mao, Dongxue, Kim, Seon Young, Pasupuleti, Sasidhar, Liu, Zhandong, Yamamoto, Shinya, Owen, Nichole, Vossaert, Liesbeth, Liu, Pengfei, Bellen, Hugo, Wangler, Michael F.

المصدر: Genetics in Medicine ; volume 26, issue 6, page 101102 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1016/j.gim.2024.101102
https://api.elsevier.com/content/article/PII:S1098360024000352?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360024000352?httpAccept=text/plain

المؤلفون: Kia, Demis A., Zhang, David, Guelfi, Sebastian, Manzoni, Claudia, Hubbard, Leon, Reynolds, Regina H., Botía, Juan, Ryten, Mina, Ferrari, Raffaele, Lewis, Patrick A., Williams, Nigel, Trabzuni, Daniah, Hardy, John, Wood, Nicholas W., Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helene, Holmans, Peter, Bras, Jose, PhD, John Quinn, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Rizig, Mie, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Faghri, Faraz, Gibbs, J. Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W., Reed, Xylena, Alcalay, Roy N., Gan-Or, Ziv, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, Astrid D., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Javier Barrero, Francisco, Bergareche Yarza, Jesús A., Bernal-Bernal, Inmaculada, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María T., Buiza-Rueda, Dolores, Càmara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernàndez, Manel, Fernàndez-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria J., Gonzalez-Aramburu, Isabel, Pagola, Ana G., Hoenicka, Janet, Infante, Jon, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, Arregui, Adolfo López de Munain, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Mèndez-del-Barrio, Carlota, González, Manuel Menéndez, Adolfo Mínguez, Marina Mata, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Perinán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Rodriguez, Antonio Sanchez, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Weale, Michael, Ramasamy, Adaikalavan, Smith, Colin, Guelfi, Manuel Sebastian, D'sa, Karishma, Forabosco, Paola, Botiá, Juan A.

وصف الملف: text

Relation: https://centaur.reading.ac.uk/96176/1/jamaneurology_kia_2021_oi_200099_1617209045.71518.pdf; Kia, D. A., Zhang, D., Guelfi, S., Manzoni, C., Hubbard, L., Reynolds, R. H., Botía, J., Ryten, M., Ferrari, R., Lewis, P. A. , Williams, N., Trabzuni, D., Hardy, J., Wood, N. W., Noyce, A. J., Kaiyrzhanov, R., Middlehurst, B., Kia, D. A., Tan, M., Houlden, H., Morris, H. R., Plun-Favreau, H., Holmans, P., Hardy, J., Trabzuni, D., Bras, J., PhD, J. Q., Mok, K. Y., Kinghorn, K. J., Billingsley, K., Wood, N. W., Lewis, P., Schreglmann, S., Guerreiro, R., Lovering, R., R'Bibo, L., Manzoni, C., Rizig, M., Ryten, M., Guelfi, S., Escott-Price, V., Chelban, V., Foltynie, T., Williams, N., Brice, A., Danjou, F., Lesage, S., Corvol, J.-C., Martinez, M., Schulte, C., Brockmann, K., Simón-Sánchez, J., Heutink, P., Rizzu, P., Sharma, M., Gasser, T., Nicolas, A., Cookson, M. R., Bandres-Ciga, S., Blauwendraat, C., Craig, D. W., Faghri, F., Gibbs, J. R., Hernandez, D. G., Van Keuren-Jensen, K., Shulman, J. M., Leonard, H. L., Nalls, M. A., Robak, L., Lubbe, S., Finkbeiner, S., Mencacci, N. E., Lungu, C., Singleton, A. B., Scholz, S. W., Reed, X., Alcalay, R. N., Gan-Or, Z., Rouleau, G. A., Krohn, L., van Hilten, J. J., Marinus, J., Adarmes-Gómez, A. D., Aguilar, M., Alvarez, I., Alvarez, V., Javier Barrero, F., Bergareche Yarza, J. A., Bernal-Bernal, I., Blazquez, M., Bonilla-Toribio, M., Botía, J. A., Boungiorno, M. T., Buiza-Rueda, D., Càmara, A., Carrillo, F., Carrión-Claro, M., Cerdan, D., Clarimón, J., Compta, Y., Diez-Fairen, M., Dols-Icardo, O., Duarte, J., Duran, R., Escamilla-Sevilla, F., Ezquerra, M., Feliz, C., Fernàndez, M., Fernàndez-Santiago, R., Garcia, C., García-Ruiz, P., Gómez-Garre, P., Gomez Heredia, M. J., Gonzalez-Aramburu, I., Pagola, A. G., Hoenicka, J., Infante, J., Jimenez-Escrig, A., Kulisevsky, J., Labrador-Espinosa, M. A., Lopez-Sendon, J. L., Arregui, A. L. d. M., Macias, D., Torres, I. M., Marín, J., Marti, M. J., Martínez-Castrillo, J. C., Mèndez-del-Barrio, C., González, M. M., Adolfo Mínguez, M. M., Mir, P., Rezola, E. M., Muñoz, E., Pagonabarraga, J., Pastor, P., Errazquin, F. P., Perinán-Tocino, T., Ruiz-Martínez, J., Ruz, C., Rodriguez, A. S., Sierra, M., Suarez-Sanmartin, E., Tabernero, C., Tartari, J. P., Tejera-Parrado, C., Tolosa, E., Valldeoriola, F., Vargas-González, L., Vela, L., Vives, F., Zimprich, A., Pihlstrom, L., Toft, M., Koks, S., Taba, P., Hassin-Baer, S., Weale, M., Ramasamy, A., Smith, C., Guelfi, M. S., D'sa, K., Forabosco, P. and Botiá, J. A. (2021) Identification of candidate Parkinson disease genes by integrating genome-wide association study, expression, and epigenetic data sets. JAMA Neurology, 78 (4). pp. 464-472. ISSN 2168-6149 doi: https://doi.org/10.1001/jamaneurol.2020.5257

الاتاحة: https://centaur.reading.ac.uk/96176/
https://centaur.reading.ac.uk/96176/1/jamaneurology_kia_2021_oi_200099_1617209045.71518.pdf

المؤلفون: Storm, Catherine, Kia, Demis A., Almramhi, Mona M., Bandres-Ciga, Sara, Finan, Chris, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helene, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y., Kinghorn, Kerri J., Lewis, Patrick, Schreglmann, Sebastian R., Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E., Clarke, Car, Harvey, Kirsten, Jacobs, Benjamin M., Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martínez, María, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Schneider, Susanne A., Cookson, Mark R, Blauwendraat, Cornelis, Craig, David W, Billingsley, Kimberley, Makarious, Mary B., Narendra, Derek P., Faghri, Faraz, Gibbs, J. Raphael, Hernández, Dena G., Van Keuren-Jensen, K., Shulman, Joshua M., Iwaki, Hirotaka, Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Troycoco, Timothy, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja W., Reed, Xylena, Uitti, Ryan J., Ross, Owen A., Grenn, Francis P., Moore, Anni, Alcalay, Roy N, Wszolek, Zbigniew K., Gan-Or, Ziv, Rouleau, Guy A., Krohn, Lynne, Mufti, Kheireddin, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Aguilar Barberà , Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Blázquez Estrada, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, Mario, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jiménez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, López-Sendon, Jose Luis, López de Munain Arregui, Adolfo, Macías-García, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, María José, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo M, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez-Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sánchez Rodríguez, Antonio, Sierra, Maria, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Taba, Pille, Koks, Sulev, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Tienari, Pentti, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Shashkin, Chingiz, Zharkinbekova, Nazira, Akhmetzhanov, Vadim, Kaishybayeva, Gulnaz, Karimova, Altynay, Khaibullin, Talgat, Lynch, Timothy L., Hingorani, Aroon, Wood, Nicholas W., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Brain, Case-Control Studies, Cohort Studies, Disease Progression, Gene Expression Regulation, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, Mendelian Randomization Analysis, Parkinson Disease, Quantitative Trait Loci, Risk Factors

وصف الملف: application/pdf

Relation: Nature communications; Vol. 12 Núm. 1 (december 2021), p. 7342; https://ddd.uab.cat/record/264453; urn:oai:ddd.uab.cat:264453; urn:scopus_id:85121559630; urn:pmid:34930919; urn:articleid:20411723v12n1p7342; urn:pmcid:PMC8688480; urn:oai:pubmedcentral.nih.gov:8688480

الاتاحة: https://ddd.uab.cat/record/264453

المؤلفون: Chen, Zhongbo, Zhang, David, Reynolds, Regina H., Gustavsson, Emil K., García-Ruiz, Sonia, D'Sa, Karishma, Fairbrother-Browne, Aine, Vandrovcova, Jana, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A., Tan, Manuela, Morris, Huw R., Plun-Favreau, Helen, Holmans, Peter, Trabzuni, Daniah, Bras, Jose, Quinn, John, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W., Lewis, Patrick, Schreglmann, Sebastian, Guerreiro, Rita, Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez Rande, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Nicolas, Aude, Cookson, Mark R, Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W, Faghri, Faraz, Gibbs, J.Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja, Reed, Xylena, Alcalay, Roy N, Gan-Or, Ziv, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Aguilar Barberà , Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Blázquez Estrada, Marta, Bonilla-Toribio, Marta, Botía, Juan, Boungiorno, M. T, Buiza-Rueda, Dolores, Cámara, Ana, Carrillo, Fátima, Carrión-Claro, M, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, Jose Luis, López de Munain Arregui, Adolfo, Macias, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sanchez Rodriguez, Antonio, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Hardy, John, Houlden, Henry, Gagliano Taliun, Sarah A., Ryten, Mina, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Alzheimer Disease, Apolipoproteins E, Brain, Chromosomes, Human, Pair 19, Conserved Sequence, DNA, Intergenic, Gene Ontology, Genome, Humans, Introns, Linkage Disequilibrium, Molecular Sequence Annotation, Neurodegenerative Diseases, Phenotype, Phylogeny, Polymorphism, Single Nucleotide, Regression Analysis, RNA, Long Noncoding, Messenger

وصف الملف: application/pdf

Relation: Nature communications; Vol. 12 Núm. 1 (january 2021), p. 2076; https://ddd.uab.cat/record/272005; urn:oai:ddd.uab.cat:272005; urn:scopus_id:85104099832; urn:articleid:20411723v12n1p2076; urn:pmid:33824317; urn:pmcid:PMC8024253; urn:oai:pubmedcentral.nih.gov:8024253

الاتاحة: https://ddd.uab.cat/record/272005

المؤلفون: Gialluisi, Alessandro, Reccia, Mafalda Giovanna, Modugno, Nicola, Nutile, Teresa, Lombardi, Alessia, Di Giovannantonio, Luca Giovanni, Pietracupa, Sara, Ruggiero, Daniela, Scala, Simona, Gambardella, Stefano, Noyce, Alastair J., Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A., Tan, Manuela, Houlden, Henry, Morris, Huw R., Plun-Favreau, Helen, Holmans, Peter, Hardy, John, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y., Kinghorn, Kerri J., Billingsley, Kimberley, Wood, Nicholas W., Lewis, Patrick, Schreglmann, Sebastian, Lovering, Rruth, R'Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E., Clarke, Carl, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez Rande, Maria, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Rizzu, Patrizia, Sharma, Manu, Gasser, Thomas, Cookson, Mark R., Bandres-Ciga, Sara, Blauwendraat, Cornelis, Craig, David W., Narendra, Derek, Faghri, Faraz, Gibbs, J.Raphael, Hernandez, Dena G., Van Keuren-Jensen, Kendall, Shulman, Joshua M., Iwaki, Hirotaka, Leonard, Hampton L., Nalls, Mike A., Robak, Laurie, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Finkbeiner, Steven, Mencacci, Niccolo E., Lungu, Codrin, Singleton, Andrew B., Scholz, Sonja, Reed, Xylena, Alcalay, Roy N., Gan-Or, Zin, Rouleau, Guy A., Krohn, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Aguilar Barberà , Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Blázquez Estrada, Marta, Bonilla-Toribio, Marta, Botía, Juan A., Boungiorno, María Teresa, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Cerdan, Debora, Clarimón, Jordi, Compta, Yaroslau, Diez-Fairen, Monica, Dols Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla Sevilla, Francisco, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Garcia, Ciara, García-Ruiz, Pedro, Gómez-Garre, Pilar, Gomez Heredia, Maria Jose, Gonzalez-Aramburu, Isabel, Gorostidi Pagola, Ana, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jiménez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A., Lopez-Sendon, Jose Luis, López de Munain Arregui, Adolfo, Macias, Daniel, Martínez Torres, Irene, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-del-Barrio, Carlota, Menéndez González, Manuel, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Mondragon Rezola, Elisabet, Muñoz, Esteban, Pagonabarraga Mora, Javier, Pastor, Pau, Perez Errazquin, Francisco, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Ruz, Clara, Sanchez Rodriguez, Antonio, Sierra, María, Suarez-Sanmartin, Esther, Tabernero, Cesar, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Tolosa, Eduard, Valldeoriola, Francesc, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Toft, Mathias, Koks, Sulev, Taba, Pille, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Shashkin, Chingiz, Zharkynbekova, Nazira, Akhmetzhanov, Vadim, Aitkulova, Akbota, Zholdybayeva, Elena, Zharmukhanov, Zharkyn, Kaishybayeva, Gulnaz, Karimova, Altynay, Sadykova, Dinara, Iacoviello, Licia, Gianfrancesco, F., Acampora, D., D'Esposito, M., Simeone, A., Ciullo, Marina, Esposito, T.

مصطلحات موضوعية: Late onset Parkinson's disease, Whole exome sequencing, Novel candidate genes for Parkinson's disease, Rare variant burden analysis

وصف الملف: application/pdf

Relation: Molecular neurodegeneration; Vol. 16 Núm. 1 (december 2021), p. 35; https://ddd.uab.cat/record/271888; urn:oai:ddd.uab.cat:271888; urn:scopus_id:85108675143; urn:pmid:8215754; urn:articleid:17501326v16n1p35; urn:pmid:34148545; urn:pmcid:PMC8215754; urn:oai:pubmedcentral.nih.gov:8215754

الاتاحة: https://ddd.uab.cat/record/271888

المؤلفون: Robak, Laurie, Machol, Keren, Murali, Chaya Nautiyal

المصدر: Update in Pediatrics ; page 285-295 ; ISBN 9783031415418 9783031415425

الاتاحة: http://dx.doi.org/10.1007/978-3-031-41542-5_8
https://link.springer.com/content/pdf/10.1007/978-3-031-41542-5_8

المؤلفون: Guelfi, Sebastian, D'Sa, Karishma, Botía, Juan A., Vandrovcova, Jana, Reynolds, Regina H., Zhang, David, Trabzuni, Daniah, Collado-Torres, Leonardo, Thomason, Andrew, Quijada Leyton, Pedro, Gagliano Taliun, Sarah A., Nalls, Mike A., Noyce, Alastair J., Nicolas, Aaude, Cookson, Mark R., Bandres-Ciga, Sara, Gibbs, J. Raphael, Hernandez, Dena G., Singleton, Andrew B., Reed, Xylena, Leonard, Hampton L, Blauwendraat, Cornelis, Faghri, Faraz, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Kia, Demis A., Houlden, Henry, Plun-Favreau, Helene, Mok, Kin Ying, Wood, Nicholas W., Lovering, Ruth Caroline, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica, Tan, Manuela, Morris, Huw, Middlehurst, Ben, Quinn, John, Billingsley, Kimberley, Holmans, Peter, Kinghorn, Kerri J., Lewis, Patrick, Escott-Price, Valentina, Williams, Nigel, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria M., Giri, Anamika, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Rizzu, Patrizia, Sharma, Manu, Shulman, Joshua M., Robak, Laurie, Lubbe, Steven, Mencacci, Niccolò Emanuele, Finkbeiner, Steven, Lungu, Codrin, Scholz, Sonja, Gan-Or, Ziv, Rouleau, Guy A., Krohan, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, M, Mir, Pablo, Gómez-Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A., Macias, Daniel, Vargas-González, Laura, Méndez-del-Barrio, Carlota, Periñán, Teresa, Tejera-Parrado, Cristina, Diez-Fairen, Monica, Aguilar, Miquel, Alvarez, Ignacio, Boungiorno, María Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, Mendez-Gonzalez, Manuel, Blazquez, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Mondragon Rezola, Elisabet, Bergareche Yarza, Jesús Alberto, Gorostidi Pagola, Ana, de Munain Arregui, Adolfo López, Ruiz-Martínez, Javier, Cerdan, Debora, Duarte, Jacinto, Clarimón, Jordi, Dols Icardo, Oriol, Infante, Jon, Marín, Juan, Kulisevsky, Jaime, Pagonabarraga Mora, Javier, Gonzalez-Aramburu, Isabel, Sanchez Rodriguez, Antonio, Sierra, Maria, Duran, Raquel, Ruz, Clara, Vives, Francisco, Escamilla Sevilla, Francisco, Mínguez-Castellanos, Adolfo, Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, Maria Jose, Fernández, Manel, Muñoz, Esteban, Fernández-Santiago, Rubén, Tolosa, Eduard, Valldeoriola, Francesc, García-Ruiz, Pedro, Gómez-Heredia, Maria José, Perez Errazquin, Francisco, Hoenicka, Janet, Jiménez-Escrig, Adriano, Martínez-Castrillo, Juan Carlos, Lopez-Sendon, Jose Luis, Martinez Torres, Irene, Tabernero, Cesar, Vela, Lydia, Zimprich, Alexander, Pihlstrom, Lasse, Koks, Sulev, Taba, Pille, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka, Ojo, Oluwadamilola, Forabosco, Paola, Walker, Robert, Small, Kerrin, Smith, Colin, Ramasamy, Adaikalavan, Hardy, John, Weale, Michael, Ryten, Mina, Universitat Autònoma de Barcelona

مصطلحات موضوعية: Gene regulation, Genetics of the nervous system, RNA sequencing, RNA splicing

وصف الملف: application/pdf

Relation: Nature communications; Vol. 11 Núm. 1 (january 2020), p. 1041; https://ddd.uab.cat/record/283724; urn:oai:ddd.uab.cat:283724; urn:scopus_id:85081072099; urn:articleid:20411723v11n1p1041; urn:pmid:32098967; urn:pmcid:PMC7042265; urn:oai:pubmedcentral.nih.gov:7042265

الاتاحة: https://ddd.uab.cat/record/283724

المؤلفون: Leonard, Hampton, Blauwendraat, Cornelis, Krohn, Lynne, Faghri, Faraz, Iwaki, Hirotaka, Ferguson, Glen, Day-Williams, Aaron G, Stone, David J, Singleton, Andrew B, Nalls, Mike A, Gan-Or, Ziv, On behalf of the International Parkinson's Disease Genomic Consortium (IPDGC), Adarmes-Gómez, Astrid D, Aguilar, Miquel, Aitkulova, Akbota, Akhmetzhanov, Vadim, Alcalay, Roy N, Alvarez, Ignacio, Alvarez, Victoria, Bandres-Ciga, Sara, Barrero, Francisco Javier, Bergareche Yarza, Jesús Alberto, Bernal-Bernal, Inmaculada, Billingsley, Kimberley, Blazquez, Marta, Bonilla-Toribio, Marta, Botía, Juan A, Boungiorno, María Teresa, Bras, Jose, Brice, Alexis, Brockmann, Kathrin, Bubb, Vivien, Buiza-Rueda, Dolores, Cámara, Ana, Carrión-Claro, Fátima Carrillo Mario, Viorica Chelban, Debora Cerdan, Clarimón, Jordi, Clarke, Carl, Compta, Yaroslau, Cookson, Mark R, Corvol, Jean-Christophe, Craig, David W, Danjou, Fabrice, Diez-Fairen, Monica, Dols-Icardo, Oriol, Duarte, Jacinto, Duran, Raquel, Escamilla-Sevilla, Francisco, Escott-Price, Valentina, Ezquerra, Mario, Feliz, Cici, Fernández, Manel, Fernández-Santiago, Rubén, Finkbeiner, Steven, Foltynie, Thomas, Garcia, Ciara, García-Ruiz, Pedro, Gasser, Thomas, Gibbs, J Raphael, Gomez Heredia, Maria Jose, Gómez-Garre, Pilar, González, Manuel Menéndez, Gonzalez-Aramburu, Isabel, Guelfi, Sebastian, Guerreiro, Rita, Hardy, John, Hassin-Baer, Sharon, Hernandez, Dena G, Heutink, Peter, Hoenicka, Janet, Holmans, Peter, Houlden, Henry, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kaishybayeva, Gulnaz, Kaiyrzhanov, Rauan, Karimova, Altynay, Kia, Demis A, Kinghorn, Kerri J, Koks, Sulev, Kulisevsky, Jaime, ALabrador-Espinosa, Miguel, Leonard, Hampton L, Lesage, Suzanne, Lewis, Patrick, Lopez-Sendon, Jose Luis, Lovering, Ruth, Lubbe, Steven, Lungu, Codrin, Macias, Daniel, Majamaa, Kari, Manzoni, Claudia, Marín, Juan, Marinus, Johan, Marti, Maria Jose, Martinez, Maria, Torres, Irene Martínez, Martínez-Castrillo, Juan Carlos, Mata, Marina, Mencacci, Niccolo E, Méndez-del-Barrio, Carlota, Middlehurst, Ben, Mínguez, Adolfo, Mir, Pablo, Mok, Kin Y, Morris, Huw R, Muñoz, Esteban, Narendra, Derek, Noyce, Alastair J, Ojo, Oluwadamilola O, Okubadejo, Njideka U, Pagola, Ana Gorostidi, Pastor, Pau, Errazquin, Francisco Perez, Periñán-Tocino, Teresa, Pihlstrom, Lasse, Plun-Favreau, Helene, Quinn, John, R'Bibo, Lea, Reed, Xylena, Rezola, Elisabet Mondragon, Rizzu, Patrizia, Robak, Laurie, Rodriguez, Antonio Sanchez, Ruiz-Martínez, Javier, Ruz, Clara, Ryten, Mina, Sadykova, Dinara, Scholz, Sonja W, Schreglmann, Sebastian, Schulte, Claudia, Sharma, Manu, Shashkin, Chingiz, Shulman, Joshua M, Sierra, María, Siitonen, Ari, Simón-Sánchez, Javier, Suarez-Sanmartin, Esther, Taba, Pille, Tabernero, Cesar, Tan, Manuela X, Tartari, Juan Pablo, Tejera-Parrado, Cristina, Toft, Mathias, Tolosa, Eduard, Trabzuni, Daniah, Valldeoriola, Francesc, van Hilten, Jacobus J, Keuren-Jensen, Kendall Van, Vargas-González, Laura, Vela, Lydia, Vives, Francisco, Williams, Nigel, Wood, Nicholas W, Zharkinbekova, Nazira, Zharmukhanov, Zharkyn, Zholdybayeva, Elena, Zimprich, Alexander, Ylikotila, Pauli, Shulman, Lisa M., Coelln, Rainervon, Reich, Stephen, Savitt, Joseph, Agee, Michelle, Alipanahi, Babak, Auton, Adam, Bell, Robert K., Bryc, Katarzyna, Elson, Sarah L., Fontanillas, Pierre, Furlotte, Nicholas A., Huber, Karen E., Hicks, Barry, Jewett, Ethan M., Jiang, Yunxuan, Keng-Han Lin, Aaron Kleinman, Litterman, Nadia K., McCreight, Jennifer C., McIntyre, Matthew H., McManus, Kimberly F., Mountain, Joanna L., Noblin, Elizabeth S., Northover, Carrie A.M., Pitts, Steven J., Poznik, G. David, Sathirapongsasuti, J. Fah, Shelton, Janie F., Shringarpure, Suyash, Tian, Chao, Vacic, Vladimir, Wang, Xin, Wilson, Catherine H., Anderson, Tim, Bentley, Steven, Dalrymple-Alford, John, Fowdar, Javed, Gratten, Jacob, Halliday, Glenda, Henders, Anjali K., Hickie, Ian, Kassam, Irfahan, Kennedy, Martin, Kwok, John, Lewis, Simon, Mellick, George, Montgomery, Grant, Pearson, John, Pitcher, Toni, Sidorenko, Julia, Silburn, Peter A., Vallerga, Costanza L., Visscher, Peter M., Wallace, Leanne, Wray, Naomi R., Xue, Angli, Yang, Jian, Zhang, Futao

مصطلحات موضوعية: Neurogenetics

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/57/5/331; http://dx.doi.org/10.1136/jmedgenet-2019-106283

الاتاحة: http://jmg.bmj.com/cgi/content/short/57/5/331
https://doi.org/10.1136/jmedgenet-2019-106283

المؤلفون: 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.

المصدر: Neurology Genetics ; volume 6, issue 5 ; ISSN 2376-7839

الاتاحة: http://dx.doi.org/10.1212/nxg.0000000000000498
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000000498

المؤلفون: Reynolds, Regina H, Botía, Juan A., Nalls, Mike A., Noyce, Alastair J., Nicolas, Aude, Cookson, Mark R., Bandres-Ciga, Sara, Gibbs, J. Raphael, Hernandez, Dena G., Singleton, Andrew B., Reed, Xylena, Leonard, Hampton, Blauwendraat, Cornelis, Faghri, Faraz, Bras, Jose, Guerreiro, Rita, Tucci, Arianna, Kia, Demis A., Houlden, Henry, Plun-Favreau, Helen, Mok, Kin Ying, Wood, Nicholas W., Lovering, Ruth Caroline, R'Bibo, Lea, Rizig, Mie, Chelban, Viorica, Trabzuni, Daniah, Tan, Manuela, Morris, Huw, Middlehurst, Ben, Quinn, John, Billingsley, Kimberley, Holmans, Peter, Kinghorn, Kerri J., Lewis, Patrick, Escott-Price, Valentina, Williams, Nigel, Foltynie, Thomas, Brice, Alexis, Danjou, Fabrice, Lesage, Suzanne, Corvol, Jean-Christophe, Martinez, Maria, Giri, Anamika, Schulte, Claudia, Brockmann, Kathrin, Simón-Sánchez, Javier, Heutink, Peter, Gasser, Thomas, Rizzu, Patrizia, Sharma, Manu, Shulman, Joshua M., Robak, Laurie, Lubbe, Steven, Mencacci, Niccolò Emanuele, Finkbeiner, Steven, Lungu, Codrin, Scholz, Sonja, Gan-Or, Ziv, Rouleau, Guy A., Krohan, Lynne, van Hilten, Jacobus J., Marinus, Johan, Adarmes-Gómez, A.D, Bernal-Bernal, Inmaculada, Bonilla-Toribio, Marta, Buiza-Rueda, Dolores, Carrillo, Fátima, Carrión-Claro, Mario, Mir, Pablo, Gómez-Garre, Pilar, Jesús, Silvia, Labrador-Espinosa, Miguel A., Macías-García, Daniel, Vargas-González, Laura, Méndez-del-Barrio, Carlota, Periñán-Tocino, Teresa, Tejera-Parrado, Cristina, Diez-Fairen, Monica., Aguilar Barberà , Miquel, Alvarez, Ignacio, Boungiorno, Maria Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, González, Manel Menéndez, Blázquez Estrada, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Rezola, Elisabet Mondragon, Yarza, Jesús Alberto Bergareche, Gorostidi Pagola, Ana, de Munain Arregui, Adolfo López, Ruiz-Martínez, J., Cerdan, Debora, Duarte, J., Clarimón, Jordi, Dols Icardo, Oriol, Infante, J., Marín, J., Kulisevsky, Jaime, Pagonabarraga Mora, Javier, Gonzalez-Aramburu, Isabel, Rodriguez, A. S., Sierra, M., Duran, Raquel, Ruz, C., Vives, Francisco, Escamilla Sevilla, Francisco, Mínguez, A., Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, M. J., Fernández, M., Muñoz García, José Esteban, Fernández Santiago, Rubén, Tolosa, E., Valldeoriola, F., García-Ruiz, P., Heredia, M. J. G., Errazquin, F. P., Hoenicka, J., Jiménez-Escrig, Adriano, Martínez-Castrillo, J. C., Lopez-Sendon, J. L., Torres, I. M., Tabernero, C., Vela, Lydia, Zimprich, Alexander, Pihlstrom, L., Koks, S., Taba, Pille, Majamaa, K., Siitonen, A., Okubadejo, N. U., Ojo, O. O., Pitcher, T., Anderson, T., Bentley, S., Fowdar, J., Mellick, G., Dalrymple-Alford, J., Henders, Anjali K, Kassam, I., Montgomery, G., Sidorenko, J., Zhang, Futao, Xue, Angli, Vallerga, Costanza L., Wallace, Leanne, Wray, N. R., Yang, J., Visscher, P. M., Gratten, J., Silburn, P. A., Halliday, G., Hickie, Ian B, Kwok, John B.J, Lewis, S., Kennedy, M., Pearson, J., Hardy, J., Gagliano Taliun, Sarah A, Ryten, Mina, Universitat Autònoma de Barcelona

وصف الملف: application/pdf

Relation: NPJ Parkinson's disease; Vol. 5 Núm. 1 (january 2019), p. 6; https://ddd.uab.cat/record/223586; urn:oai:ddd.uab.cat:223586; urn:scopus_id:85084784933; urn:articleid:23738057v5n1p6; urn:pmid:31016231; urn:pmcid:PMC6470136; urn:oai:pubmedcentral.nih.gov:6470136

الاتاحة: https://ddd.uab.cat/record/223586