المؤلفون: Kodali, Sreela, Vuong, Brian B., Bulea, Thomas. C., Chesler, Alexander T., Bönnemann, Carsten G., Okamura, Allison M.

مصطلحات موضوعية: Computer Science - Human-Computer Interaction

URL الوصول: http://arxiv.org/abs/2306.04034

المؤلفون: Kodali, Sreela, Okamura, Allison M., Bulea, Thomas C., Chesler, Alexander T., Bönnemann, Carsten G.

مصطلحات موضوعية: Computer Science - Human-Computer Interaction

URL الوصول: http://arxiv.org/abs/2206.08930

المؤلفون: Yaou, Rabah Ben, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Francesco, Muntoni F, Pierson, Tyler M, Gómez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle

المصدر: Brain Communications. 3(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Genetics, Cardiovascular, Clinical Research, Pediatric, Muscular Dystrophy, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Musculoskeletal, laminopathies, striated muscle, LMNA, early onset, muscular dystrophy, Clinical sciences, Neurosciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7qz69890
https://escholarship.org/content/qt7qz69890/qt7qz69890.pdf

المؤلفون: Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, Bonne, Gisèle

المصدر: Brain communications. 3(3)

مصطلحات موضوعية: LMNA, early onset, laminopathies, muscular dystrophy, striated muscle

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7qz69890

المؤلفون: Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

المصدر: Syeda, Safoora B; Lone, Museer A; Mohassel, Payam; Donkervoort, Sandra; Munot, Pinki; França, Marcondes C; Galarza-Brito, Juan Eli; Eckenweiler, Matthias; Asamoah, Alexander; Gable, Kenneth; Majumdar, Anirban; Schumann, Anke; Gupta, Sita D; Lakhotia, Arpita; Shieh, Perry B; Foley, A Reghan; Jackson, Kelly E; Chao, Katherine R; Winder, Thomas L; Catapano, Francesco; Feng, Lucy; Kirschner, Janbernd; Muntoni, Francesco; Dunn, Teresa M; Hornemann, Thorsten; Bönnemann, Carsten G (2024). Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis. Journal of Neurology, Neurosurgery, and Psychiatry, 95(2):103-113.

مصطلحات موضوعية: Institute of Clinical Chemistry, 610 Medicine & health, 540 Chemistry

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/268377/1/ZORA_jnnp_2023_332132_full.pdf; info:pmid/38041679; urn:issn:0022-3050

الاتاحة: https://www.zora.uzh.ch/id/eprint/268377/
https://www.zora.uzh.ch/id/eprint/268377/1/ZORA_jnnp_2023_332132_full.pdf

المؤلفون: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valérie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’donnell-Luria, Anne, Ogonuki, Narumi, O’grady, Gina L., O’heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, van den Bergh, Peter, Vannoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., Macarthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, Straub, Volker

المساهمون: Newcastle University Newcastle, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), ANR-10-LABX-0030,INRT,Integrative Biology : Nuclear dynamics- Regenerative medicine - Translational medicine(2010), ANR-10-INBS-0009,France Génomique,Organisation et montée en puissance d'une Infrastructure Nationale de Génomique(2010), ANR-10-IDEX-0002,UNISTRA,Par-delà les frontières, l'Université de Strasbourg(2010), European Project: 305121,EC:FP7:HEALTH,FP7-HEALTH-2012-INNOVATION-1,NEUROMICS(2012), European Project: 779257,Solve-RD

المصدر: ISSN: 1061-4036.

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/grantAgreement/EC/FP7/305121/EU/Integrated European –omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases/NEUROMICS; info:eu-repo/grantAgreement//779257/EU/European Union's Horizon 2020 research and innovation program/Solve-RD

الاتاحة: https://hal.science/hal-04699537
https://hal.science/hal-04699537v1/document
https://hal.science/hal-04699537v1/file/islandora_171817.pdf
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: Töpf, A. (Ana), Cox, D. (Dan), Zaharieva, Irina T., Di Leo, V. (Valeria), Sarparanta, J. (Jaakko), Jonson, P. (Per Harald), Sealy, Ian M., Smolnikov, A. (Andrei), White, Richard J., Vihola, A. (Anna), Savarese, M. (Marco), Merteroglu, M. (Munise), Wali, N. (Neha), Laricchia, Kristen M., Venturini, C. (Cristina), Vroling, B. (Bas), Stenton, Sarah L., Cummings, Beryl B., Harris, E. (Elizabeth), Marini-Bettolo, C. (Chiara), Diaz-Manera, J. (Jordi), Henderson, M. (Matt), Barresi, R. (Rita), Duff, J. (Jennifer), England, Eleina M., Patrick, J. (Jane), Al-Husayni, S. (Sundos), Biancalana, V. (Valérie), Beggs, Alan H., Bodi, I. (Istvan), Bommireddipalli, S. (Shobhana), Bönnemann, Carsten G., Cairns, A. (Anita), Chiew, M. (Mei-Ting), Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, S. (Sandra), Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, C. (Carla), Jungbluth, H. (Heinz), Kamsteeg, E. (Erik-Jan), Lornage, X. (Xavière), Löscher, Wolfgang N., Malfatti, E. (Edoardo), Manzur, A. (Adnan), Martí, P. (Pilar), Mongini, Tiziana E., Muelas, N. (Nuria), Nishikawa, A. (Atsuko), O’Donnell-Luria, A. (Anne), Ogonuki, N. (Narumi), O’Grady, Gina L., O’Heir, E. (Emily), Paquay, S. (Stéphanie), Phadke, R. (Rahul), Pletcher, Beth A., Romero, Norma B., Schouten, M. (Meyke), Shah, S. (Snehal), Smuts, I. (Izelle), Sznajer, Y. (Yves), Tasca, G. (Giorgio), Taylor, Robert W., Tuite, A. (Allysa), Van den Bergh, P. (Peter), VanNoy, G. (Grace), Voermans, Nicol C., Wanschitz, Julia V., Wraige, E. (Elizabeth), Yoshimura, K. (Kimihiko), Oates, Emily C., Nakagawa, O. (Osamu), Nishino, I. (Ichizo), Laporte, J. (Jocelyn), Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, A. (Anna), Cordell, Heather J., Udd, B. (Bjarne), Busch-Nentwich, Elisabeth M., Muntoni, F. (Francesco), Straub, V. (Volker)

مصطلحات موضوعية: Sciences du Vivant [q-bio]/Génétique

الاتاحة: https://www.nature.com/articles/s41588-023-01651-0

المؤلفون: Möller, Birk, Becker, Lena-Luise, Saffari, Afshin, Afenjar, Alexandra, Coci, Emanuele G, Williamson, Rachel, Ward-Melver, Catherine, Gibaud, Marc, Sedlácková, Lucie, Laššuthová, Petra, Libá, Zuzana, Vlcková, Markéta, William, Nancy, Klee, Eric W, Gavrilova, Ralitza H, Lévy, Jonathan, Capri, Yline, Scavina, Mena, Körner, Robert Walter, Valuvullah, Zaheer, Weiß, Claudia, Möller, Greta Marit, Thiel, Moritz, Sinnema, Margje, Kamsteeg, Erik-Jan, Donkervoort, Sandra, Duboc, Veronique, Zaafrane-Khachnaoui, Khaoula, Elkhateeb, Nour, Selim, Laila, Margot, Henri, Marin, Victor, Beneteau, Claire, Isidor, Bertrand, Cogne, Benjamin, Keren, Boris, Küsters, Benno, Beggs, Alan H, Genetti, Casie A, Nicolai, Joost, Dötsch, Jörg, Koy, Anne, Bönnemann, Carsten G, von der Hagen, Maja, von Kleist-Retzow, Jürgen-Christoph, Voermans, Nicol, Jungbluth, Heinz, Dafsari, Hormos Salimi

المصدر: Möller , B , Becker , L-L , Saffari , A , Afenjar , A , Coci , E G , Williamson , R , Ward-Melver , C , Gibaud , M , Sedlácková , L , Laššuthová , P , Libá , Z , Vlcková , M , William , N , Klee , E W , Gavrilova , R H , Lévy , J , Capri , Y , Scavina , M , Körner , R W , Valuvullah , Z , Weiß , C , Möller , G M , Thiel , M , Sinnema , ....

مصطلحات موضوعية: autophagy, intracellular trafficking, neurodevelopmental disorders, viral immunity

Relation: https://cris.maastrichtuniversity.nl/en/publications/46f506eb-dc8e-469a-92e3-91640957b169

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/46f506eb-dc8e-469a-92e3-91640957b169
https://doi.org/10.1093/brain/awae183

المؤلفون: Syeda, Safoora B, Eckenweiler, Matthias, Schumann, Anke, Kirschner, Janbernd, Boennemann, Carsten G.

المصدر: Journal of neurology, neurosurgery, and psychiatry. - 95, 2 (2024) , 103-113, ISSN: 1468-330X

وصف الملف: pdf

Relation: https://freidok.uni-freiburg.de/data/241833

الاتاحة: https://freidok.uni-freiburg.de/data/241833
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2418330
https://doi.org/10.1136/jnnp-2023-332132
https://freidok.uni-freiburg.de/dnb/download/241833

المؤلفون: Jeffries, Lauren, Mis, Emily K, McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N, Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S, Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B, Banka, Siddharth, Chao, Katherine R, Cobbold, Laura, Cohen, Stacey, Custodio, Helena M, Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E, Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E, Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P, Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M, Stals, Karen, Towner, Shelley, Wilson, William, Deciphering Developmental Disorders, Genomics England Research Consortium, Undiagnosed Disease Network, Khokha, Mustafa K, Bönnemann, Carsten G, Lucas, Carrie L, Lakhani, Saquib A

المصدر: Genetics Medecine , 26 (2) , Article 101023. (2024)

مصطلحات موضوعية: CRELD1, developmental delay, epilepsy, hypotonia

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10183303/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10183303/1/Sisodiya_CRELD1%20-%20pre-publish%20November%202023.pdf
https://discovery.ucl.ac.uk/id/eprint/10183303/

المؤلفون: Buvoli, Massimo, Wilson, Genevieve Ck, Buvoli, Ada, Gugel, Jack F., Hau, Abbi, Bönnemann, Carsten G., Paradas, Carmen, Ryba, David M., Woulfe, Kathleen C., Walker, Lori A., Buvoli, Tommaso, Ochala, Julien, Leinwand, Leslie A.

المصدر: Buvoli , M , Wilson , G C , Buvoli , A , Gugel , J F , Hau , A , Bönnemann , C G , Paradas , C , Ryba , D M , Woulfe , K C , Walker , L A , Buvoli , T , Ochala , J & Leinwand , L A 2024 , ' A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity ' , The Journal of Clinical Investigation , vol. 134 , no. 9 , :e172599. . https://doi.org/10.1172/JCI172599

مصطلحات موضوعية: Molecular pathology, Mouse models, Muscle, Muscle biology

وصف الملف: application/pdf

الاتاحة: https://researchprofiles.ku.dk/da/publications/a-laing-distal-myopathyassociated-proline-substitution-in-the-myosin-rod-perturbs-myosin-crossbridging-activity(5394e9a3-0873-4a15-be44-8be6d524dedd).html
https://doi.org/10.1172/JCI172599
https://curis.ku.dk/ws/files/391620067/A_Laing_distal.pdf

المؤلفون: Dohrn, Maike F, Beijer, Danique, Lone, Museer A, Bayraktar, Elif, Oflazer, Piraye, Orbach, Rotem, Donkervoort, Sandra, Foley, A Reghan, Rose, Aubrey, Lyons, Michael, Louie, Raymond J, Gable, Kenneth, Dunn, Teresa, Chen, Sitong, Danzi, Matt C, Synofzik, Matthis, Bönnemann, Carsten G, Nazlı Başak, A, Hornemann, Thorsten, Zuchner, Stephan

المصدر: Dohrn, Maike F; Beijer, Danique; Lone, Museer A; Bayraktar, Elif; Oflazer, Piraye; Orbach, Rotem; Donkervoort, Sandra; Foley, A Reghan; Rose, Aubrey; Lyons, Michael; Louie, Raymond J; Gable, Kenneth; Dunn, Teresa; Chen, Sitong; Danzi, Matt C; Synofzik, Matthis; Bönnemann, Carsten G; Nazlı Başak, A; Hornemann, Thorsten; Zuchner, Stephan (2024). Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis. Journal of Neurology, Neurosurgery, and Psychiatry, 95(3):201-205.

مصطلحات موضوعية: Institute of Clinical Chemistry, 540 Chemistry, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/268388/7/ZORA_268388.pdf; https://www.zora.uzh.ch/id/eprint/268388/1/Thorsten9.pdf; info:pmid/38041684; urn:issn:0022-3050

الاتاحة: https://www.zora.uzh.ch/id/eprint/268388/
https://www.zora.uzh.ch/id/eprint/268388/7/ZORA_268388.pdf
https://www.zora.uzh.ch/id/eprint/268388/1/Thorsten9.pdf

المؤلفون: Donkervoort, Sandra, Mohassel, Payam, O'Leary, Melanie, Bonner, Devon E., Hartley, Taila, Acquaye, Nicole, Brull, Astrid, Mozaffar, Tahseen, Saporta, Mario A., Dyment, David A., Sampson, Jacinda B., Pajusalu, Sander, Austin‐Tse, Christina, Hurth, Kyle, Cohen, Julie S., McWalter, Kirsty, Warman‐Chardon, Jodi, Crunk, Amy, Foley, A. Reghan, Mammen, Andrew L., Wheeler, Matthew T., O'Donnell‐Luria, Anne, Bönnemann, Carsten G.

المساهمون: National Institute of Neurological Disorders and Stroke, Common Fund, National Human Genome Research Institute, Silicon Valley Community Foundation

المصدر: Annals of Clinical and Translational Neurology ; volume 11, issue 3, page 629-640 ; ISSN 2328-9503 2328-9503

الاتاحة: http://dx.doi.org/10.1002/acn3.51983
https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51983

المؤلفون: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana

المساهمون: European Research Council, Ultragenyx, LGMD2I Research Fund, Murdoch Children's Research Institute, Kurt+Peter Foundation, LGMD2D Foundation, Quebec Health Research Fund, Sanofi US, Massachusetts General Hospital, National Institute of Child Health and Human Development, National Institute of Mental Health, National Human Genome Research Institute, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Dental and Craniofacial Research, Autism Speaks, Foundation Fighting Blindness Inc, National Health and Medical Research Council, TÜBİTAK, Estonian Research and Development Council, Muscular Dystrophy UK

المصدر: The American Journal of Human Genetics ; volume 111, issue 5, page 863-876 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2024.03.008
https://api.elsevier.com/content/article/PII:S0002929724000818?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929724000818?httpAccept=text/plain

المؤلفون: Brull, Astrid, Sarathy, Apurva, Bolduc, Véronique, Chen, Grace S., McCarty, Riley M., Bönnemann, Carsten G.

المساهمون: National Institute of Neurological Disorders and Stroke, Cure CMD

المصدر: Molecular Therapy - Nucleic Acids ; volume 35, issue 2, page 102178 ; ISSN 2162-2531

الاتاحة: http://dx.doi.org/10.1016/j.omtn.2024.102178
https://api.elsevier.com/content/article/PII:S2162253124000659?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2162253124000659?httpAccept=text/plain

المؤلفون: Geist Hauserman, Janelle, Laverty, Chamindra G., Donkervoort, Sandra, Hu, Ying, Silverstein, Sarah, Neuhaus, Sarah B., Saade, Dimah, Vaughn, Gabrielle, Malicki, Denise, Kaur, Rupleen, Li, Yuesheng, Luo, Yan, Liu, Poching, Burr, Patrick, Foley, A. Reghan, Mohassel, Payam, Bönnemann, Carsten G.

المساهمون: National Human Genome Research Institute, National Institute of Mental Health, National Cancer Institute, National Institute on Drug Abuse, National Institute of Neurological Disorders and Stroke, University of California, San Diego, National Institutes of Health, National Heart, Lung, and Blood Institute

المصدر: Human Genetics and Genomics Advances ; volume 5, issue 2, page 100274 ; ISSN 2666-2477

الاتاحة: http://dx.doi.org/10.1016/j.xhgg.2024.100274
https://api.elsevier.com/content/article/PII:S2666247724000137?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666247724000137?httpAccept=text/plain

المؤلفون: Todd, Joshua J., Lawal, Tokunbor A., Chrismer, Irene C., Kokkinis, Angela, Grunseich, Christopher, Jain, Minal S., Waite, Melissa R., Biancavilla, Victoria, Pocock, Shavonne, Brooks, Kia, Mendoza, Christopher J., Norato, Gina, Cheung, Ken, Riekhof, Willa, Varma, Pooja, Colina-Prisco, Claudia, Emile-Backer, Magalie, Meilleur, Katherine G., Marks, Andrew R., Webb, Yael, Marcantonio, Eugene E., Foley, A. Reghan, Bönnemann, Carsten G., Mohassel, Payam

المصدر: eClinicalMedicine ; volume 68, page 102433 ; ISSN 2589-5370

الاتاحة: http://dx.doi.org/10.1016/j.eclinm.2024.102433
https://api.elsevier.com/content/article/PII:S2589537024000129?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2589537024000129?httpAccept=text/plain

المؤلفون: Lawlor, Michael W., Schoser, Benedikt, Margeta, Marta, Sewry, Caroline A., Jones, Karra A., Shieh, Perry B., Kuntz, Nancy L., Smith, Barbara K., Dowling, James J., Müller-Felber, Wolfgang, Bönnemann, Carsten G., Seferian, Andreea M., Blaschek, Astrid, Neuhaus, Sarah, Foley, A. Reghan, Saade, Dimah N., Tsuchiya, Etsuko, Qasim, Ummulwara R., Beatka, Margaret, Prom, Mariah J., Ott, Emily, Danielson, Susan, Krakau, Paul, Kumar, Suresh N., Meng, Hui, Vanden Avond, Mark, Wells, Clive, Gordish-Dressman, Heather, Beggs, Alan H., Christensen, Sarah, Conner, Edward, James, Emma S., Lee, Jun, Sadhu, Chanchal, Miller, Weston, Sepulveda, Bryan, Varfaj, Fatbardha, Prasad, Suyash, Rico, Salvador

المصدر: eBioMedicine ; volume 99, page 104894 ; ISSN 2352-3964

الاتاحة: http://dx.doi.org/10.1016/j.ebiom.2023.104894
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2352396423004607?httpAccept=text/plain

المؤلفون: Bolduc, Véronique, Minor, Katie M, Hu, Ying, Kaur, Rupleen, Friedenberg, Steven G, Van Buren, Samantha, Guo, Ling T, Glennon, Joseph C, Marioni-Henry, Katia, Mickelson, James R, Bönnemann, Carsten G, Shelton, G Diane

المصدر: Neuromuscular Disorders. 30(5)

مصطلحات موضوعية: Medical Physiology, Biomedical and Clinical Sciences, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Muscular Dystrophy, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Musculoskeletal, Animals, Collagen Type VI, Dogs, Female, Male, Muscular Dystrophies, Pedigree, Whole Genome Sequencing, Canine, Muscle, Myopathy, Collagen VI, Clinical Sciences, Neurosciences, Neurology & Neurosurgery, Clinical sciences, Biological psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4rk0j85m

المؤلفون: Shieh, Perry B, Kuntz, Nancy L, Dowling, James J, Müller-Felber, Wolfgang, Bönnemann, Carsten G, Seferian, Andreea M, Servais, Laurent, Smith, Barbara K, Muntoni, Francesco, Blaschek, Astrid, Foley, A Reghan, Saade, Dimah N, Neuhaus, Sarah, Alfano, Lindsay N, Beggs, Alan H, Buj-Bello, Ana, Childers, Martin K, Duong, Tina, Graham, Robert J, Jain, Minal, Coats, Julie, MacBean, Vicky, James, Emma S, Lee, Jun, Mavilio, Fulvio, Miller, Weston, Varfaj, Fatbardha, Murtagh, Michael, Han, Cong, Noursalehi, Mojtaba, Lawlor, Michael W, Prasad, Suyash, Rico, Salvador

المصدر: The Lancet Neurology, 22 (12), 1125 - 1139 (2023-12)

مصطلحات موضوعية: Male, Child, Humans, Infant, Child, Preschool, France, Genetic Therapy/adverse effects, Germany, Treatment Outcome, Myopathies, Structural, Congenital/genetics, Myopathies, Structural, Congenital/therapy, Sepsis, Genetic Therapy, Myopathies, Structural, Congenital, Neurology (clinical), Human health sciences, Pediatrics, Sciences de la santé humaine, Pédiatrie

Relation: https://api.elsevier.com/content/article/PII:S1474442223003137?httpAccept=text/xml; urn:issn:1474-4422; urn:issn:1474-4465

URL الوصول: https://orbi.uliege.be/handle/2268/324969