المؤلفون: Álvarez Jerez, Pilar, Wild Crea, Peter, Ramos, Daniel M, Gustavsson, Emil K, Radefeldt, Mandy, Damianov, Andrey, Makarious, Mary B, Ojo, Oluwadamilola O, Billingsley, Kimberley J, Malik, Laksh, Daida, Kensuke, Bromberek, Sarah, Hu, Fangle, Schneider, Zachary, Surapaneni, Aditya L, Stadler, Julia, Rizig, Mie, Morris, Huw R, Pantazis, Caroline B, Leonard, Hampton L, Screven, Laurel, Qi, Yue A, Nalls, Mike A, Bandres-Ciga, Sara, Hardy, John, Houlden, Henry, Eng, Celeste, Burchard, Esteban González, Kachuri, Linda, Lin, Chia-Ho, Black, Douglas L, Singleton, Andrew B, Fischer, Steffen, Bauer, Peter, Reed, Xylena, Ryten, Mina, Beetz, Christian, Ward, Michael, Okubadejo, Njideka U, Blauwendraat, Cornelis

المصدر: Nature Structural & Molecular Biology. 31(12)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Neurodegenerative, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Prevention, Biotechnology, Acquired Cognitive Impairment, Dementia, Aging, Brain Disorders, Neurosciences, Parkinson's Disease, 2.1 Biological and endogenous factors, Neurological, Glucosylceramidase, Humans, Introns, Parkinson Disease, Genetic Predisposition to Disease, Black People, Polymorphism, Single Nucleotide, RNA Splicing, Global Parkinson’s Genetics Program, Chemical Sciences, Medical and Health Sciences, Biophysics, Developmental Biology, Biological sciences, Biomedical and clinical sciences, Chemical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3668224k
https://escholarship.org/content/qt3668224k/qt3668224k.pdf

المؤلفون: Kaiyrzhanov, Rauan, Thompson, Kyle, Efthymiou, Stephanie, Mukushev, Askhat, Zharylkassyn, Akbota, Prasad, Chitra, Ghayoor Karimiani, Ehsan, Alvi, Javeria Raza, Niyazov, Dmitriy, Alahmad, Ahmad, Babaei, Meisam, Tajsharghi, Homa, Albash, Buthaina, Alaqeel, Ahmad, Charif, Majida, Hashemi, Narges, Heidari, Morteza, Kalantar, Seyed Mehdi, Lenaers, Guy, Mehrjardi, Mohammad Yahya Vahidi, Srinivasan, Varunvenkat M., Gowda, Vykuntaraju K., Mirabutalebi, Seyed Hamidreza, Carere, Deanna Alexis, Movahedinia, Mojtaba, Murphy, David, McFarland, Robert, Abdel-Hamid, Mohamed S., Elhossini, Rasha M., Alavi, Shahryar, Napier, Melanie, Belanger-Quintana, Amaya, Prasad, Asuri N., Jakobczyk, Jessica, Roubertie, Agathe, Rupar, Tony, Sultan, Tipu, Toosi, Mehran Beiraghi, Sazanov, Leonid, Severino, Mariasavina, Houlden, Henry, Taylor, Robert W., Maroofian, Reza

المصدر: Brain Communications. 7(1)

مصطلحات موضوعية: Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-24791
https://doi.org/10.1093/braincomms/fcae453
https://his.diva-portal.org/smash/get/diva2:1922161/FULLTEXT01.pdf

المؤلفون: Benatar, Michael, Wuu, Joanne, Huey, Edward, McMillan, Corey, Petersen, Ronald, Postuma, Ronald, McHutchison, Caroline, Dratch, Laynie, Arias, Jalayne, Crawley, Anita, Houlden, Henry, McDermott, Michael, Cai, Xueya, Thakur, Neil, Boxer, Adam, Rosen, Howard, Boeve, Bradley, Dacks, Penny, Cosentino, Stephanie, Abrahams, Sharon, Shneider, Neil, Lingor, Paul, Shefner, Jeremy, Andersen, Peter, Al-Chalabi, Ammar, Turner, Martin

المصدر: Nature Reviews Neurology. 20(6)

مصطلحات موضوعية: Humans, Amyotrophic Lateral Sclerosis, Phenotype, Frontotemporal Dementia, Neurodegenerative Diseases, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6jz6s161
https://escholarship.org/content/qt6jz6s161/qt6jz6s161.pdf

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: 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)

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: 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
https://escholarship.org/content/qt08b331z6/qt08b331z6.pdf

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

المؤلفون: Rahmioglu, Nilufer, Mortlock, Sally, Ghiasi, Marzieh, Møller, Peter L, Stefansdottir, Lilja, Galarneau, Geneviève, Turman, Constance, Danning, Rebecca, Law, Matthew H, Sapkota, Yadav, Christofidou, Paraskevi, Skarp, Sini, Giri, Ayush, Banasik, Karina, Krassowski, Michal, Lepamets, Maarja, Marciniak, Błażej, Nõukas, Margit, Perro, Danielle, Sliz, Eeva, Sobalska-Kwapis, Marta, Thorleifsson, Gudmar, Topbas-Selcuki, Nura F, Vitonis, Allison, Westergaard, David, Arnadottir, Ragnheidur, Burgdorf, Kristoffer S, Campbell, Archie, Cheuk, Cecilia SK, Clementi, Caterina, Cook, James, De Vivo, Immaculata, DiVasta, Amy, Dorien, O, Donoghue, Jacqueline F, Edwards, Todd, Fontanillas, Pierre, Fung, Jenny N, Geirsson, Reynir T, Girling, Jane E, Harkki, Paivi, Harris, Holly R, Healey, Martin, Heikinheimo, Oskari, Holdsworth-Carson, Sarah, Hostettler, Isabel C, Houlden, Henry, Houshdaran, Sahar, Irwin, Juan C, Jarvelin, Marjo-Riitta, Kamatani, Yoichiro, Kennedy, Stephen H, Kepka, Ewa, Kettunen, Johannes, Kubo, Michiaki, Kulig, Bartosz, Kurra, Venla, Laivuori, Hannele, Laufer, Marc R, Lindgren, Cecilia M, MacGregor, Stuart, Mangino, Massimo, Martin, Nicholas G, Matalliotaki, Charoula, Matalliotakis, Michail, Murray, Alison D, Ndungu, Anne, Nezhat, Camran, Olsen, Catherine M, Opoku-Anane, Jessica, Padmanabhan, Sandosh, Paranjpe, Manish, Peters, Maire, Polak, Grzegorz, Porteous, David J, Rabban, Joseph, Rexrode, Kathyrn M, Romanowicz, Hanna, Saare, Merli, Saavalainen, Liisu, Schork, Andrew J, Sen, Sushmita, Shafrir, Amy L, Siewierska-Górska, Anna, Słomka, Marcin, Smith, Blair H, Smolarz, Beata, Szaflik, Tomasz, Szyłło, Krzysztof, Takahashi, Atsushi, Terry, Kathryn L, Tomassetti, Carla, Treloar, Susan A, Vanhie, Arne, Vincent, Katy, Vo, Kim C, Werring, David J, Zeggini, Eleftheria, Zervou, Maria I, Adachi, Sosuke

المصدر: Nature Genetics. 55(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Pain Research, Headaches, Women's Health, Chronic Pain, Prevention, Contraception/Reproduction, Brain Disorders, Clinical Research, Infertility, Neurosciences, Migraines, Endometriosis, Human Genome, 2.1 Biological and endogenous factors, Female, Humans, Genetic Predisposition to Disease, Genome-Wide Association Study, Pain, Comorbidity, DBDS Genomic Consortium, FinnGen Study, FinnGen Endometriosis Taskforce, Celmatix Research Team, 23andMe Research Team, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6824h56d
https://escholarship.org/content/qt6824h56d/qt6824h56d.pdf

المؤلفون: Salpietro, Vincenzo, Deforie, Valentina Galassi, Efthymiou, Stephanie, O'Connor, Emer, Marcé‐Grau, Anna, Maroofian, Reza, Striano, Pasquale, Zara, Federico, Morrow, Michelle M, Group, SYNAPS Study, Reich, Adi, Blevins, Amy, Sala‐Coromina, Júlia, Accogli, Andrea, Fortuna, Sara, Alesandrini, Marie, Au, PY Billie, Singhal, Nilika Shah, Cogne, Benjamin, Isidor, Bertrand, Hanna, Michael G, Macaya, Alfons, Kullmann, Dimitri M, Houlden, Henry, Männikkö, Roope

المصدر: Epilepsia. 64(2)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Pediatric, Neurodegenerative, Genetics, Biotechnology, Brain Disorders, Epilepsy, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Humans, Mutation, Neurodevelopmental Disorders, Seizures, Kv1.6 Potassium Channel, K(V)1 Shaker channel family, neurodevelopmental disorder, voltage-gated potassium channels, whole exome sequencing, SYNAPS Study Group, KV1 Shaker channel family, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0q22f2xm

المؤلفون: Huin, Vincent, Coarelli, Giulia, Guemy, Clément, Boluda, Susana, Debs, Rabab, Mochel, Fanny, Stojkovic, Tanya, Grabli, David, Maisonobe, Thierry, Gaymard, Bertrand, Lenglet, Timothée, Tard, Céline, Davion, Jean-Baptiste, Sablonnière, Bernard, Monin, Marie-Lorraine, Ewenczyk, Claire, Viala, Karine, Charles, Perrine, Ber, Isabelle Le, Reilly, Mary, Houlden, Henry, Cortese, Andrea, Seilhean, Danielle, Brice, Alexis, Durr, Alexandra

المصدر: Brain - A Journal of Neurology , Oxford University Press (OUP), 2021

مصطلحات موضوعية: Quantitative Biology - Neurons and Cognition

URL الوصول: http://arxiv.org/abs/2201.10143

المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

المصدر: American Journal of Human Genetics. 108(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, 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/6480d7nc

المؤلفون: Padhi, Evin M, Hayeck, Tristan J, Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J, Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D, Akiyama, Jennifer, Fries, Lauren E, Ng, Jeffrey K, Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S, Dickel, Diane E, Bernier, Raphael A, Gorkin, David U, Pennacchio, Len A, Zody, Michael C, Turner, Tychele N

المصدر: Human Genomics. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Autism, Behavioral and Social Science, Human Genome, Pediatric, Neurosciences, Biotechnology, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Neurological, Autistic Disorder, Enhancer Elements, Genetic, Exome, Female, Gene Regulatory Networks, Genetic Predisposition to Disease, Humans, Male, Muscle Hypotonia, Mutation, Neurodevelopmental Disorders, Neurons, Transcription Factors, Neurodevelopmental disorder, Enhancer, Gene regulatory network, EBF3, hs737, Genome, Variant, De novo, Genetics & Heredity, Biochemistry and cell biology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9mp1t8gm
https://escholarship.org/content/qt9mp1t8gm/qt9mp1t8gm.pdf

المؤلفون: Akram, Rabia, Anwar, Haseeb, Muzaffar, Humaira, Turchetti, Valentina, Lau, Tracy, Vona, Barbara, Makhdoom, Ehtisham Ul Haq, Iqbal, Javed, Mahmood Baig, Shahid, Hussain, Ghulam, Houlden, Henry

المساهمون: Akram, Rabia, Anwar, Haseeb, Muzaffar, Humaira, Turchetti, Valentina, Lau, Tracy, Vona, Barbara, Makhdoom, Ehtisham Ul Haq, Iqbal, Javed, Mahmood Baig, Shahid, Hussain, Ghulam, Houlden, Henry

Relation: genes15091203

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/145584
https://doi.org/10.3390/genes15091203

المؤلفون: Rosenhahn, Erik, O'Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowsan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E. I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M. H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E. X., Maroofian, Reza, Platzer, Konrad

المصدر: American Journal of Human Genetics. 109(8):1421-1435

مصطلحات موضوعية: Acetylcholinesterase, Animals, Drosophila melanogaster, Epilepsy, Loss of Heterozygosity, Microcephaly, Nervous System Malformations, Neurodevelopmental Disorders, Pedigree, animal, genetics, heterozygosity loss, mental disease, nervous system malformation, Translationell medicin TRIM, Translational Medicine TRIM

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-21694
https://doi.org/10.1016/j.ajhg.2022.06.008
https://his.diva-portal.org/smash/get/diva2:1688208/FULLTEXT01.pdf

المؤلفون: Hengel, Holger, Hannan, Shabab B, Dyack, Sarah, MacKay, Sara B, Schatz, Ulrich, Fleger, Martin, Kurringer, Andreas, Balousha, Ghassan, Ghanim, Zaid, Alkuraya, Fowzan S, Alzaidan, Hamad, Alsaif, Hessa S, Mitani, Tadahiro, Bozdogan, Sevcan, Pehlivan, Davut, Lupski, James R, Gleeson, Joseph J, Dehghani, Mohammadreza, Mehrjardi, Mohammad YV, Sherr, Elliott H, Parks, Kendall C, Argilli, Emanuela, Begtrup, Amber, Galehdari, Hamid, Balousha, Osama, Shariati, Gholamreza, Mazaheri, Neda, Malamiri, Reza A, Pagnamenta, Alistair T, Kingston, Helen, Banka, Siddharth, Jackson, Adam, Osmond, Mathew, Consortium, Care4Rare Canada, Consortium, Genomics England Research, Rieß, Angelika, Haack, Tobias B, Nägele, Thomas, Schuster, Stefanie, Hauser, Stefan, Admard, Jakob, Casadei, Nicolas, Velic, Ana, Macek, Boris, Ossowski, Stephan, Houlden, Henry, Maroofian, Reza, Schöls, Ludger

المصدر: American Journal of Human Genetics. 108(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Brain Disorders, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Cell Movement, Child, Child, Preschool, Drosophila, Female, Fibroblasts, Humans, Infant, Loss of Function Mutation, Loss of Heterozygosity, Male, Mice, Mice, Knockout, Neoplasm Proteins, Neurodevelopmental Disorders, Pedigree, Proteome, Young Adult, Care4Rare Canada Consortium, Genomics England Research Consortium, BCAS3, UAS-Gal4, fibroblasts, global developmental delay, microcephaly, neurodevelopmental disorder, proteomics, pyramidal tract involvement, thin corpus callosum, transcriptomics, 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/7rn0f207
https://escholarship.org/content/qt7rn0f207/qt7rn0f207.pdf

المؤلفون: Chen, Zhongbo, Zhang, David, Reynolds, Regina H, Gustavsson, Emil K, García-Ruiz, Sonia, D’Sa, Karishma, Fairbrother-Browne, Aine, Vandrovcova, Jana, Hardy, John, Houlden, Henry, Gagliano Taliun, Sarah A, Botía, Juan, Ryten, Mina

المصدر: Nature Communications. 12(1)

مصطلحات موضوعية: Human Genome, Brain Disorders, Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, Neurosciences, Dementia, Biotechnology, Alzheimer's Disease, Neurodegenerative, Aging, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Underpinning research, Aetiology, Neurological, Alzheimer Disease, Apolipoproteins E, Brain, Chromosomes, Human, Pair 19, Conserved Sequence, DNA, Intergenic, Gene Ontology, Genome, Human, Humans, Introns, Linkage Disequilibrium, Molecular Sequence Annotation, Neurodegenerative Diseases, Phenotype, Phylogeny, Polymorphism, Single Nucleotide, RNA, Long Noncoding, RNA, Messenger, Regression Analysis, International Parkinson’s Disease Genomics Consortium

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1jv690rw
https://escholarship.org/content/qt1jv690rw/qt1jv690rw.pdf

المؤلفون: Magrinelli, Francesca, Tesson, Christelle, Angelova, Plamena R., Salazar-Villacorta, Ainara, Rodriguez, Jose A., Scardamaglia, Annarita, Chung, Brian Hon-Yin, Jaconelli, Matthew, Vona, Barbara, Esteras, Noemi, Houlden, Henry

المساهمون: Magrinelli, Francesca, Tesson, Christelle, Angelova, Plamena R., Salazar-Villacorta, Ainara, Rodriguez, Jose A., Scardamaglia, Annarita, Chung, Brian Hon-Yin, Jaconelli, Matthew, Vona, Barbara, Esteras, Noemi, Houlden, Henry

Relation: https://resolver.sub.uni-goettingen.de/purl?gro-2/145059

الاتاحة: https://resolver.sub.uni-goettingen.de/purl?gro-2/145059
https://doi.org/10.1101/2024.06.19.24308302

المؤلفون: Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L, Liang, Robin Amanda, Abdel-Hamid, Mohamed S, Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S, Zaki, Maha S, Severino, Mariasavina, Duru, Kingsley C, Tryon, Robert C, Brauteset, Lin, Ansari, Morad, Hamilton, Mark, Van Haelst, Mieke M, Van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G, Smeland, Marie Louise Falkenberg, McClenaghan, Conor

المصدر: 1822-1836 ; 147 ; Brain ; 5

مصطلحات موضوعية: ABCC9, KATP channels, SUR2, Neurodevelopmental disorder

وصف الملف: application/pdf

Relation: https://hdl.handle.net/11250/3145619; https://doi.org/10.1093/brain/awae010; cristin:2271691

الاتاحة: https://hdl.handle.net/11250/3145619
https://doi.org/10.1093/brain/awae010

المؤلفون: Werren, Elizabeth, Rodriguez Bey, Guillermo, Majethia, Purvi, Kaur, Parneet, J Patil, Siddaramappa, Kekatpure, Minal, Afenjar, Alexandra, Qebibo, Leila, Burglen, Lydie, Tomoum, Hoda, Demurger, Florence, Dubourg, Christèle, Siddiqui, Shahyan, Tsan, Yao-Chang, Abdullah, Uzma, Ali, Zafar, Maryam Saadi, Saadia, Baig, Shahid, Mahmood, Houlden, Henry, Maroofian, Reza, Saleem Padiath, Quasar, Bielas, Stephanie, Shukla, Anju

المساهمون: University of Michigan Ann Arbor, University of Michigan System, University of Pittsburgh (PITT), Pennsylvania Commonwealth System of Higher Education (PCSHE), Manipal University, Kasturba Medical College, Manipal, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Ain Shams, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Centre Hospitalier Universitaire Rennes, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes (Biosit : Biologie - Santé - Innovation Technologique), Pir Mehr Ali Shah Arid Agriculture University = PMAS-Arid Agriculture University Rawalpindi (AAUR), National Institute for Biotechnology and Genetic Engineering (NIBGE), UCL Queen Square Institute of Neurology, University College of London London (UCL), This study was funded by the National Institutes of Health (1R01HD093570-01A1) to A.S. and S.L.B, R01NS095884, R33NS104384, R33NS106087, R01NS126193 and R21NS131906 to Q.S.P.

المصدر: ISSN: 0006-8950.

مصطلحات موضوعية: 4.1B, delayed myelination, loss-of-function, neurodevelopmental disorder, oligodendroglia, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology

Relation: info:eu-repo/semantics/altIdentifier/pmid/39292993; PUBMED: 39292993

الاتاحة: https://hal.science/hal-04822764
https://hal.science/hal-04822764v1/document
https://hal.science/hal-04822764v1/file/Werren%20et%20al_2024_Biallelic%20EPB41L3%20variants%20underlie%20a%20developmental%20disorder%20with%20seizures%20and%20myelination%20defects.pdf
https://doi.org/10.1093/brain/awae299