المؤلفون: Gustavsson, Emil K., Sethi, Siddharth, Gao, Yujing, Brenton, Jonathan W., García-Ruiz, Sonia, Zhang, David, Garza, Raquel, Reynolds, Regina H., Evans, James R., Chen, Zhongbo, Grant-Peters, Melissa, Macpherson, Hannah, Montgomery, Kylie, Dore, Rhys, Wernick, Anna i., Arber, Charles, Wray, Selina, Gandhi, Sonia, Esselborn, Julian, Blauwendraat, Cornelis, Douse, Christopher H., Adami, Anita, Atacho, Diahann A. M., Kouli, Antonina, Quaegebeur, Annelies, Barker, Roger A., Englund, Elisabet, Platt, Frances, Jakobsson, Johan, Wood, Nicholas W., Houlden, Henry, Saini, Harpreet, Bento, Carla F., Hardy, John, Ryten, Mina

المصدر: Science Advances MultiPark: Multidisciplinary research focused on Parkinson´s disease StemTherapy: National Initiative on Stem Cells for Regenerative Therapy. 10(26):1-20

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics

URL الوصول: https://lup.lub.lu.se/record/1bd86ba8-32fe-42f2-bfc1-db96a69ef7ac
http://dx.doi.org/10.1126/sciadv.adk1296

المؤلفون: Vishnu, Venugopalan Y., Lemmers, Richard J. L. F., Reyaz, Alisha, Mishra, Rinkle, Ahmad, Tanveer, van der Vliet, Patrick J., Kretkiewicz, Marcelina M., Macken, William L.^{Aff3, Aff4}, Efthymiou, Stephanie, Dominik, Natalia, Morrow, Jasper M., Bhatia, Rohit, Wilson, Lindsay A., Houlden, Henry, Hanna, Michael G.^{Aff3, Aff4, IDs4143102401577z_cor15}, Bugiardini, Enrico, van der Maarel, Silvère M., Srivastava, M. V. Padma^{Aff1, IDs4143102401577z_cor18}

المصدر: European Journal of Human Genetics. 32(9):1053-1064

المؤلفون: Chelban, Viorica, Aksnes, Henriette, Maroofian, Reza, LaMonica, Lauren, Seabra, Luis, Siggervåg, Anette, Devic, Perrine, Shamseldin, Hanan, Vandrovcova, Jana, Murphy, David, Richard, Anne-Claire, Quenez, Olivier, Bonnevalle, Antoine, Zanetti, M, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Efthymiou, Stephanie, Schottlaender, Lucia, Morsy, Heba, Scardamaglia, Annarita, Tariq, Ambreen, Pagnamenta, Alistair, Pennavaria, Ajia, Krogstad, Liv, Bekkelund, Åse, Caiella, Alessia, Glomnes, Nina, Brønstad, Kirsten, Tury, Sandrine, Moreno De Luca, Andrés, Boland-Auge, Anne, Olaso, Robert, Deleuze, Jean-François, Anheim, Mathieu, Cretin, Benjamin, Vona, Barbara, Alajlan, Fahad, Abdulwahab, Firdous, Battini, Jean-Luc, İpek, Rojan, Bauer, Peter, Zifarelli, Giovanni, Gungor, Serdal, Kurul, Semra, Lochmuller, Hanns, Daas, Sahar, Fakhro, Khalid, Gómez-Pascual, Alicia, Botía, Juan, Wood, Nicholas, Horvath, Rita, Ernst, Andreas, Rothman, James, McEntagart, Meriel, Crow, Yanick, Alkuraya, Fowzan, Nicolas, Gaël, Arnesen, Thomas, Houlden, Henry

المصدر: Nature Communications. 15(1)

مصطلحات موضوعية: Humans, Acetylation, Brain, Brain Diseases, Inheritance Patterns, Mutation, Phosphates, Sodium-Phosphate Cotransporter Proteins, Type III

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8hc1r6m8
https://escholarship.org/content/qt8hc1r6m8/qt8hc1r6m8.pdf

المؤلفون: de Boni, Laura^{Aff1, Aff2, Aff3}, Wallis, Amber, Hays Watson, Aurelia, Ruiz-Riquelme, Alejandro, Leyland, Louise-Ann, Bourinaris, Thomas, Hannaway, Naomi, Wüllner, Ullrich^{Aff7, Aff8}, Peters, Oliver^{Aff9, Aff10}, Priller, Josef^{Aff10, Aff11, Aff12, Aff13}, Falkenburger, Björn H^{Aff14, Aff15}, Wiltfang, Jens^{Aff16, Aff17, Aff18}, Bähr, Mathias^{Aff16, Aff19, Aff20}, Zerr, Inga^{Aff16, Aff19}, Bürger, Katharina^{Aff21, Aff22}, Perneczky, Robert^{Aff21, Aff23, Aff24, Aff25}, Teipel, Stefan^{Aff26, Aff27}, Löhle, Matthias^{Aff26, Aff28}, Hermann, Wiebke^{Aff26, Aff28}, Schott, Björn-Hendrik^{Aff16, Aff29}, Brockmann, Kathrin^{Aff30, Aff31}, Spottke, Annika^{Aff3, Aff7}, Haustein, Katrin, Breuer, Peter, Houlden, Henry, Weil, Rimona S, Bartels, Tim^{Aff1, IDs44321024000835_cor27}

المصدر: EMBO Molecular Medicine. 16(7):1657-1674

المؤلفون: Pellerin, David^{Aff1, Aff2}, Del Gobbo, Giulia F., Couse, Madeline, Dolzhenko, Egor, Nageshwaran, Sathiji K.^{Aff6, Aff7}, Cheung, Warren A., Xu, Isaac R. L., Dicaire, Marie-Josée, Spurdens, Guinevere, Matos-Rodrigues, Gabriel, Stevanovski, Igor^{Aff11, Aff12}, Scriba, Carolin K., Rebelo, Adriana, Roth, Virginie, Wandzel, Marion, Bonnet, Céline^{Aff14, Aff15}, Ashton, Catherine, Agarwal, Aman, Peter, Cyril, Hasson, Dan^{Aff16, Aff17}, Tsankova, Nadejda M.^{Aff18, Aff19}, Dewar, Ken, Lamont, Phillipa J., Laing, Nigel G., Renaud, Mathilde^{Aff14, Aff22, Aff23}, Houlden, Henry, Synofzik, Matthis^{Aff24, Aff25}, Usdin, Karen, Nussenzweig, Andre, Napierala, Marek, Chen, Zhao, Jiang, Hong^{Aff28, Aff29, Aff30}, Deveson, Ira W.^{Aff11, Aff12, Aff31}, Ravenscroft, Gianina, Akbarian, Schahram, Eberle, Michael A., Boycott, Kym M., Pastinen, Tomi^{Aff8, Aff32}, Brais, Bernard^{Aff1, Aff20}, Zuchner, Stephan, Danzi, Matt C.^{Aff9, IDs41588024018085_cor42}

المصدر: Nature Genetics. 56(7):1366-1370

المؤلفون: Benatar, Michael^{Aff1, IDs4158202400961z_cor1}, Wuu, Joanne, Huey, Edward D., McMillan, Corey T., Petersen, Ronald C., Postuma, Ronald, McHutchison, Caroline^{Aff6, Aff7}, Dratch, Laynie, Arias, Jalayne J., Crawley, Anita, Houlden, Henry, McDermott, Michael P.^{Aff11, Aff12}, Cai, Xueya, Thakur, Neil, Boxer, Adam, Rosen, Howard, Boeve, Bradley F., Dacks, Penny, Cosentino, Stephanie, Abrahams, Sharon^{Aff6, Aff7}, Shneider, Neil, Lingor, Paul, Shefner, Jeremy, Andersen, Peter M., Al-Chalabi, Ammar^{Aff21, Aff22}, Turner, Martin R.

المصدر: Nature Reviews Neurology. 20(6):364-376

المؤلفون: Pellerin, David^{Aff1, Aff2}, Heindl, Felix, Traschütz, Andreas^{Aff4, Aff5}, Rujescu, Dan, Hartmann, Annette M., Brais, Bernard^{Aff1, Aff7, Aff8}, Houlden, Henry, Dufke, Claudia, Riess, Olaf, Haack, Tobias, Strupp, Michael, Synofzik, Matthis^{Aff4, Aff5, IDs0041502412229z_cor12}

المصدر: Journal of Neurology. 271(5):2886-2892

المؤلفون: Smith, Thomas, Rea, Alessandro, Thomas, Huw, Thompson, Kyle, Oláhová, Monika, Maroofian, Reza, Zamani, Mina, He, Langping, Sadeghian, Saeid, Galehdari, Hamid, Lotan, Nava, Gilboa, Tal, McCorvie, Thomas, Yue, Wyatt, Houlden, Henry, Taylor, Robert, Newman, William, OKeefe, Raymond, Herman, Kristin

المصدر: European Journal of Human Genetics. 31(10)

مصطلحات موضوعية: Female, Humans, Genotype, Hearing Loss, Sensorineural, Homozygote, Mitochondrial Diseases, RNA, Transfer, Ribonuclease P

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/08b331z6

المؤلفون: Accogli, Andrea, Zaki, Maha S, Al-Owain, Mohammed, Otaif, Mansour Y, Jackson, Adam, Argilli, Emanuela, Chandler, Kate E, De Goede, Christian GEL, Cora, Tülün, Alvi, Javeria Raza, Eslahi, Atieh, Asl Mohajeri, Mahsa Sadat, Ashtiani, Setareh, Au, PY Billie, Scocchia, Alicia, Alakurtti, Kirsi, Pagnamenta, Alistair T, Toosi, Mehran Beiraghi, Ghayoor Karimiani, Ehsan, Mojarrad, Majid, Arab, Fatemeh, Duymuş, Fahrettin, Scantlebury, Morris H, Yeşil, Gözde, Rosenfeld, Jill Anne, Türkyılmaz, Ayberk, Sağer, Safiye Güneş, Sultan, Tipu, Ashrafzadeh, Farah, Zahra, Tatheer, Rahman, Fatima, Maqbool, Shazia, Abdel-Hamid, Mohamed S, Issa, Mahmoud, Efthymiou, Stephanie, Bauer, Peter, Zifarelli, Giovanni, Salpietro, Vincenzo, Al-Hassnan, Zuhair, Banka, Siddharth, Sherr, Elliot H, Gleeson, Joseph G, Striano, Pasquale, Houlden, Henry, Severino, Mariasavina, Maroofian, Reza

مصطلحات موضوعية: Pediatric, Neurosciences, Genetics, Neurodegenerative, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Rare Diseases, Human Genome, Epilepsy, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/77b7h8nj

المؤلفون: Engel, Camille, Valence, Stéphanie, Delplancq, Geoffroy, Maroofian, Reza, Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal, Cabrol, Christelle, Cilio, Maria, Cornet, Marie-Coralie, Coubes, Christine, Danhaive, Olivier, Delague, Valérie, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena, Doco-Fenzy, Martine, Engels, Hartmut, Cremer, Kirsten, Gérard, Marion, Gleeson, Joseph, Heron, Delphine, Goffeney, Joanna, Guimier, Anne, Harms, Frederike, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Massingham, Lauren, Mignot, Cyril, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Valente, Enza, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Zaki, Maha, Zara, Federizo, Lesca, Gaetan, Yassaee, Vahid, Miryounesi, Mohammad, Hashemi-Gorji, Farzad, Beiraghi, Mehran, Ashrafzadeh, Farah, Galehdari, Hamid, Walsh, Christopher, Novelli, Antonio, Tacke, Moritz, Sadykova, Dinara, Maidyrov, Yerdan, Koneev, Kairgali, Shashkin, Chingiz, Capra, Valeria, Zamani, Mina, Van Maldergem, Lionel, Burglen, Lydie, Piard, Juliette

المصدر: European Journal of Human Genetics. 31(9)

مصطلحات موضوعية: Humans, Nuclear Proteins, Epilepsy, Phenotype, Genotype, Genetic Association Studies, Neurodegenerative Diseases, Atrophy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/49z8f5t8
https://escholarship.org/content/qt49z8f5t8/qt49z8f5t8.pdf