المؤلفون: Middlehurst, Ben

مصطلحات موضوعية: 616.8

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.839432

المؤلفون: Fröhlich, Alexander, Pfaff, Abigail L, Middlehurst, Ben, Hughes, Lauren S, Bubb, Vivien J, Quinn, John P, Koks, Sulev

مصطلحات موضوعية: Biomarkers, DNA sequences, Gene mapping, Gene polymorphism, Genetic diversity, Genetic variation, Genomes, Heritability, Movement disorders, Neurodegenerative diseases, Parkinson's disease, Polymorphism, Quantitative trait loci, Reporter gene, Short interspersed nucleotide elements, Transcriptomics

وصف الملف: pdf

Relation: ispartof: Scientific reports issue 1 vol 14; 991005664670007891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Deciphering-the-role-of-a-SINE-VNTR-Alu/991005664670007891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12162447320007891/13162447310007891; alma:61MUN_INST/bibs/991005664670007891

الاتاحة: https://doi.org/10.1038/s41598-024-61753-5
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Deciphering-the-role-of-a-SINE-VNTR-Alu/991005664670007891
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12162447320007891/13162447310007891

المؤلفون: Hall, Ashley, Middlehurst, Ben, Cadogan, Max A. M., Reed, Xylena, Billingsley, Kimberley J., Bubb, Vivien J., Quinn, John P.

المساهمون: Wellcome Trust, Darby Rimmer MND Foundation

المصدر: Scientific Reports ; volume 14, issue 1 ; ISSN 2045-2322

الاتاحة: http://dx.doi.org/10.1038/s41598-023-50307-w
https://www.nature.com/articles/s41598-023-50307-w.pdf
https://www.nature.com/articles/s41598-023-50307-w

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: Fröhlich, Alexander, Hughes, Lauren S., Middlehurst, Ben, Pfaff, Abigail L., Bubb, Vivien J., Koks, Sulev, Quinn, John P.

مصطلحات موضوعية: Neurology

وصف الملف: pdf

Relation: ispartof: Frontiers in neurology vol 14; 991005609668807891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/CRISPR-deletion-of-a-SINE-VNTR-Alu-SVA67/991005609668807891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12153156970007891/13153156960007891; alma:61MUN_INST/bibs/991005609668807891

الاتاحة: https://doi.org/10.3389/fneur.2023.1273036
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/CRISPR-deletion-of-a-SINE-VNTR-Alu-SVA67/991005609668807891
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12153156970007891/13153156960007891

المؤلفون: Marshall, Jack N.G., Fröhlich, Alexander, Li, Li, Pfaff, Abigail L., Middlehurst, Ben, Spargo, Thomas P., Iacoangeli, Alfredo, Lang, Bing, Al-Chalabi, Ammar, Koks, Sulev, Bubb, Vivien J., Quinn, John P.

المصدر: Marshall , J N G , Fröhlich , A , Li , L , Pfaff , A L , Middlehurst , B , Spargo , T P , Iacoangeli , A , Lang , B , Al-Chalabi , A , Koks , S , Bubb , V J & Quinn , J P 2022 , ' A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression ' , Frontiers in Molecular Neuroscience , vol. 15 , 954928 . https://doi.org/10.3389/fnmol.2022.954928

مصطلحات موضوعية: ALS, CFAP410, gene expression, transcriptional regulation, VNTR

Relation: https://kclpure.kcl.ac.uk/portal/en/publications/d99002f0-a19e-4684-93fc-7dd166dcf73e

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/d99002f0-a19e-4684-93fc-7dd166dcf73e
https://doi.org/10.3389/fnmol.2022.954928
http://www.scopus.com/inward/record.url?scp=85138287666&partnerID=8YFLogxK

المؤلفون: Wilm, Thomas P., Tanton, Helen, Mutter, Fiona, Foisor, Veronica, Middlehurst, Ben, Ward, Kelly, Benameur, Tarek, Hastie, Nicholas, Wilm, Bettina

مصطلحات موضوعية: Animals, Cell Differentiation, Cell Lineage, Coronary Vessels, Epithelial Cells, Epithelium, Female, Gene Expression, Gene Expression Profiling, Gene Expression Regulation, Developmental, Intestines, Male, Mice, Muscle, Smooth, Vascular, Pericardium, Peritoneum, Transcriptome, WT1 Proteins

Time: 500, 600

وصف الملف: application/pdf

الاتاحة: https://oa.tib.eu/renate/handle/123456789/11974
https://doi.org/10.34657/11007

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: Storm, Catherine S., 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, Carl, Harvey, Kirsten, Jacobs, Benjamin M., 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, Schneider, Susanne A., Cookson, Mark R., Blauwendraat, Cornelis

المساهمون: Rosetrees Trust, John Black Charitable Foundation and the University College London MBPhD Programme., MBPhD Award from the International Journal of Experimental Pathology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia, National Institute for Health Research University College London Hospitals Biomedical Research Centre., NIHR Senior Investigator. National Institute for Health Research University College London Hospitals Biomedical Research Centre., DH | National Institute for Health Research

المصدر: Nature Communications ; volume 12, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-021-26280-1
https://www.nature.com/articles/s41467-021-26280-1.pdf
https://www.nature.com/articles/s41467-021-26280-1

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: Mencacci, Niccolò E, Reynolds, Regina H, Ruiz, Sonia Garcia, Vandrovcova, Jana, Forabosco, Paola, Sánchez-Ferrer, Alvaro, Volpato, Viola, Botía, Juan A, D'Sa, Karishma, Guelfi, Sebastian, Hardy, John, Mackenzie, Chris-Ann, Ramasamy, Adaikalavan, Ryten, Mina, Smith, Colin, Trabzuni, Daniah, Weale, Michael E, Noyce, Alastair J, Kaiyrzhanov, Rauan, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Morris, Huw R, Plun-Favreau, Helene, Holmans, Peter, Bras, Jose, Quinn, John, Mok, Kin Y, Kinghorn, Kerri J, Billingsley, Kimberley, Wood, Nicholas W, Lewis, Patrick, Guerreiro, Rita, Lovering, Ruth, R’Bibo, Lea, Manzoni, Claudia, Rizig, Mie, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Shashakin, Chingiz, Zharkinbekova, Nazira

المساهمون: Parkinson’s, Spanish grant ‘Ayudas a los Grupos y Unidades de Excelencia Científica de la Región de Murcia’, Fundación Séneca-Agencia de Ciencia y Tecnología de la Región de Murcia, Programa de Apoyo a la Investigación 2014, UK Dementia Research Institute, UK Medical Research Council, Alzheimer’s Society, Alzheimer’s Research UK, Tenure-track Clinician Scientist Fellowship

المصدر: Brain ; volume 143, issue 9, page 2771-2787 ; ISSN 0006-8950 1460-2156

الاتاحة: http://dx.doi.org/10.1093/brain/awaa217
http://academic.oup.com/brain/article-pdf/143/9/2771/39647304/awaa217.pdf

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

المؤلفون: Reynolds, Regina, H, Botía, Juan, 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, Helene, Mok, Kin, Y, Wood, Nicholas, W, Lovering, Ruth, R’bibo, Lea, Rizig, Mie, Chelban, Viorica, Trabzuni, Daniah, Tan, Manuela, Morris, Huw, R, 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, Niccolo, E, Finkbeiner, Steven, Lungu, Codrin, Scholz, Sonja, W, Gan-Or, Ziv, Rouleau, Guy, A, Krohan, Lynne, van Hilten, Jacobus, J, Marinus, Johan, Adarmes-Gómez, Astrid, 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, Macias, Daniel, Vargas-González, Laura, Méndez-Del-Barrio, Carlota, Periñán-Tocino, Teresa, Tejera-Parrado, Cristina, Diez-Fairen, Monica, Aguilar, Miquel, Alvarez, Ignacio, Boungiorno, María Teresa, Carcel, Maria, Pastor, Pau, Tartari, Juan Pablo, Alvarez, Victoria, González, Manuel Menéndez, Blazquez, Marta, Garcia, Ciara, Suarez-Sanmartin, Esther, Barrero, Francisco Javier, Rezola, Elisabet Mondragon, Yarza, Jesús Alberto Bergareche, Pagola, Ana Gorostidi, de Munain Arregui, Adolfo López, Ruiz-Martínez, Javier, Cerdan, Debora, Duarte, Jacinto, Clarimón, Jordi, Dols-Icardo, Oriol, Infante, Jon, Marín, Juan, Kulisevsky, Jaime, Pagonabarraga, Javier, Gonzalez-Aramburu, Isabel, Rodriguez, Antonio Sanchez, Sierra, María, Duran, Raquel, Ruz, Clara, Vives, Francisco, Escamilla-Sevilla, Francisco, Mínguez, Adolfo, Cámara, Ana, Compta, Yaroslau, Ezquerra, Mario, Marti, Maria Jose, Fernández, Manel, Muñoz, Esteban, Fernández-Santiago, Rubén, Tolosa, Eduard, Valldeoriola, Francesc, García-Ruiz, Pedro, Heredia, Maria Jose Gomez, Errazquin, Francisco Perez, Hoenicka, Janet, Jimenez-Escrig, Adriano, Martínez-Castrillo, Juan Carlos, Lopez-Sendon, Jose Luis, Torres, Irene Martínez, Tabernero, Cesar, Vela, Lydia, Zimprich, Alexander, Pihlstrom, Lasse, Koks, Sulev, Taba, Pille, Majamaa, Kari, Siitonen, Ari, Okubadejo, Njideka, U, Ojo, Oluwadamilola, O, Pitcher, Toni, Anderson, Tim, Bentley, Steven, Fowdar, Javed, Mellick, George, Dalrymple-Alford, John, Henders, Anjali, K, Kassam, Irfahan, Montgomery, Grant, Sidorenko, Julia, Zhang, Futao, Xue, Angli, Vallerga, Costanza, L, Wallace, Leanne, Wray, Naomi, R, Yang, Jian, Visscher, Peter, M, Gratten, Jacob, Silburn, Peter, A, Halliday, Glenda, Hickie, Ian, Kwok, John, Lewis, Simon, Kennedy, Martin, Pearson, John, Hardy, John, Gagliano Taliun, Sarah, A, Ryten, Mina

المساهمون: University College of London London (UCL), National Institutes of Health Bethesda, MD, USA (NIH), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), University of Michigan Ann Arbor, University of Michigan System

المصدر: EISSN: 2373-8057 ; npj Parkinson's Disease ; https://hal.sorbonne-universite.fr/hal-04444412 ; npj Parkinson's Disease, 2019, 5 (1), pp.6. ⟨10.1038/s41531-019-0076-6⟩

مصطلحات موضوعية: Neuroscience, Parkinson's disease, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/31016231; hal-04444412; https://hal.sorbonne-universite.fr/hal-04444412; https://hal.sorbonne-universite.fr/hal-04444412/document; https://hal.sorbonne-universite.fr/hal-04444412/file/s41531-019-0076-6.pdf; PUBMED: 31016231; PUBMEDCENTRAL: PMC6470136

الاتاحة: https://hal.sorbonne-universite.fr/hal-04444412
https://hal.sorbonne-universite.fr/hal-04444412/document
https://hal.sorbonne-universite.fr/hal-04444412/file/s41531-019-0076-6.pdf
https://doi.org/10.1038/s41531-019-0076-6

المؤلفون: Voronina, Svetlana, Collier, David, Chvanov, Michael, Middlehurst, Ben, Beckett, Alison J., Prior, Ian A., Criddle, David N., Begg, Malcolm, Mikoshiba, Katsuhiko, Sutton, Robert, Tepikin, Alexei V.

المصدر: Biochemical Journal ; volume 465, issue 3, page 405-412 ; ISSN 0264-6021 1470-8728

الاتاحة: http://dx.doi.org/10.1042/bj20140398
https://portlandpress.com/biochemj/article-pdf/465/3/405/682742/bj4650405.pdf

المؤلفون: Blauwendraat, Cornelis, Iwaki, Hirotaka, Gibbs, Jesse R, Bras, Jose, Guerreiro, Rita, Lubbe, Steven, Troycoco, Timothy, Finkbeiner, Steven, Mencacci, Niccolo E, Lungu, Codrin, Singleton, Andrew B, Scholz, Sonja W, Reed, Xylena, Hernandez, Dena Michelle Godwin, 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, Ruskey, Jennifer A, van Hilten, Jacobus J, Marinus, Johan, Adarmes-Gómez, Astrid D, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Barrero, Francisco Javier, Yarza, Jesús Alberto Bergareche, Bernal-Bernal, Inmaculada, Blazquez, Marta, Pihlstrøm, Lasse, 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, Toft, Mathias, 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, Heredia, Maria Jose Gomez, Gonzalez-Aramburu, Isabel, Pagola, Ana Gorostidi, Hoenicka, Janet, Infante, Jon, Jesús, Silvia, Jimenez-Escrig, Adriano, Kulisevsky, Jaime, Labrador-Espinosa, Miguel A, Lopez-Sendon, Jose Luis, de Munain Arregui, Adolfo López, Macias, Daniel, Torres, Irene Martínez, Marín, Juan, Marti, Maria Jose, Martínez-Castrillo, Juan Carlos, Méndez-Del-Barrio, Carlota, González, Manuel Menéndez, Schulte, Claudia, Mata, Marina, Mínguez, Adolfo, Mir, Pablo, Rezola, Elisabet Mondragon, Muñoz, Esteban, Pagonabarraga, Javier, Pastor, Pau, Errazquin, Francisco Perez, Periñán-Tocino, Teresa, Ruiz-Martínez, Javier, Brockmann, Kathrin, 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, Sharma, Manu, Vela, Lydia, Vives, Francisco, Zimprich, Alexander, Pihlstrom, Lasse, Taba, Pille, Koks, Sulev, Hassin-Baer, Sharon, Majamaa, Kari, Siitonen, Ari, Makarious, Mary B, Tienari, Pentti, Okubadejo, Njideka U, Ojo, Oluwadamilola O, Kaiyrzhanov, Rauan, Shashkin, Chingiz, Zharkinbekova, Nazira, Akhmetzhanov, Vadim, Kaishybayeva, Gulnaz, Karimova, Altynay, Khaibullin, Talgat, Lynch, Timothy L, Eerola-Rautio, Johanna, Tienari, Pentti J, Grosset, Donald G, Lesage, Suzanne, Corvol, Jean-Christophe, Brice, Alexis, Wood, Nick, Hardy, John, Bandres-Ciga, Sara, Heutink, Peter, Gasser, Thomas, Morris, Huw R, Noyce, Alastair J, Nalls, Mike A, Consortium, and the International Parkinson's Disease Genomics, Leonard, Hampton L, Middlehurst, Ben, Kia, Demis A, Tan, Manuela, Houlden, Henry, Storm, Catherine S, Plun-Favreau, Helene, Holmans, Peter, Trabzuni, Daniah, Quinn, John, Bubb, Vivien, Mok, Kin Y, Kinghorn, Kerri J, Wood, Nicholas W, Lewis, Patrick, Schreglmann, Sebastian R, Lovering, Ruth, R'Bibo, Lea, Manzoni, Claudia, Lake, Julie, Rizig, Mie, Ryten, Mina, Guelfi, Sebastian, Escott-Price, Valentina, Chelban, Viorica, Foltynie, Thomas, Williams, Nigel, Morrison, Karen E, Clarke, Carl, Harvey, Kirsten, Jacobs, Benjamin M, Danjou, Fabrice, Martinez, Maria, Simón-Sánchez, Javier, Rizzu, Patrizia, Schneider, Susanne A, Cookson, Mark R, Craig, David W, Billingsley, Kimberley, Kim, Jonggeol J, Narendra, Derek P, Faghri, Faraz, Gibbs, J Raphael, Van Keuren-Jensen, Kendall, Shulman, Joshua M, Robak, Laurie

المصدر: Annals of neurology 90(1), 35 - 42 (2021). doi:10.1002/ana.26090

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Aged, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Parkinson Disease: genetics, Sex Characteristics

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/pmid/pmid:33901317; info:eu-repo/semantics/altIdentifier/issn/0364-5134; info:eu-repo/semantics/altIdentifier/issn/1531-8249; https://pub.dzne.de/record/155316; https://pub.dzne.de/search?p=id:%22DZNE-2021-00583%22

الاتاحة: https://pub.dzne.de/record/155316
https://pub.dzne.de/search?p=id:%22DZNE-2021-00583%22

المؤلفون: Marshall, Jack N. G., Fröhlich, Alexander, Li Li, Pfaff, Abigail L., Middlehurst, Ben, Spargo, Thomas P., Iacoangeli, Alfredo, Bing Lang, Al-Chalabi, Ammar, Koks, Sulev, Bubb, Vivien J., Quinn, John P.

المصدر: Frontiers in Molecular Neuroscience; 9/5/2022, Vol. 15, p1-15, 15p

مصطلحات موضوعية: AMYOTROPHIC lateral sclerosis, GENE expression, REPORTER genes, TANDEM repeats, CIS-regulatory elements (Genetics), GENES, FRONTOTEMPORAL lobar degeneration