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

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/fb0a803a096f45d484f086ba7b3ad84b

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

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100274- (2024)

مصطلحات موضوعية: desmin, skeletal myopathy, cardiomyopathy, phosphorodiamidate morpholino oligomer, fibroblast transdifferentiation, RNAseq, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247724000137; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/74d2a8e88a514d42b9389ff296da85c8

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: Payam Mohassel, Pomi Yun, Safoora Syeda, Abhinandan Batra, Andrew J. Bradley, Sandra Donkervoort, Soledad Monges, Julie S. Cohen, Doris G. Leung, Francina Munell, Carlos Ortez, Angel Sánchez‐Montáñez, Peter Karachunski, John Brandsema, Livija Medne, Vinay Chaudhry, Giorgio Tasca, A. Reghan Foley, Bjarne Udd, Andrew E. Arai, Glenn A. Walter, Carsten G. Bönnemann

المصدر: Annals of Clinical and Translational Neurology, Vol 10, Iss 8, Pp 1442-1455 (2023)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/35a339c466cb40e8a5e21cd005acc393

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

المصدر: EClinicalMedicine, Vol 68, Iss , Pp 102433- (2024)

مصطلحات موضوعية: Central core disease, Congenital myopathies, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2589537024000129; https://doaj.org/toc/2589-5370

URL الوصول: https://doaj.org/article/eaee208d483c458182ce30c47fd601c7

المؤلفون: Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin, Xaviere Lornage, Nicola Foulds, Simon R. Hammans, A. Reghan Foley, Charlotte M. Fare, Alice F. Ford, Masashi Ogasawara, Aki Sato, Aritoshi Iida, Pinki Munot, Gautam Ambegaonkar, Rahul Phadke, Dominic G. O’Donovan, Rebecca Buchert, Mona Grimmel, Ana Töpf, Irina T. Zaharieva, Lauren Brady, Ying Hu, Thomas E. Lloyd, Andrea Klein, Maja Steinlin, Alice Kuster, Sandra Mercier, Pascale Marcorelles, Yann Péréon, Emmanuelle Fleurence, Adnan Manzur, Sarah Ennis, Rosanna Upstill-Goddard, Luca Bello, Cinzia Bertolin, Elena Pegoraro, Leonardo Salviati, Courtney E. French, Andriy Shatillo, F. Lucy Raymond, Tobias B. Haack, Susana Quijano-Roy, Johann Böhm, Isabelle Nelson, Tanya Stojkovic, Teresinha Evangelista, Volker Straub, Norma B. Romero, Jocelyn Laporte, Francesco Muntoni, Ichizo Nishino, Mark A. Tarnopolsky, James Shorter, Carsten G. Bönnemann, J. Paul Taylor

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/43f9513e8b2941959cf7d7957b2785b1

المؤلفون: Eleonora Guadagnin, Payam Mohassel, Kory R. Johnson, Lin Yang, Mariarita Santi, Prech Uapinyoying, Jahannaz Dastgir, Ying Hu, Allissa Dillmann, Mark R. Cookson, A. Reghan Foley, Carsten G. Bönnemann

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2184-2198 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/dda1fa8944874dd69ded9e0f376f266a

المؤلفون: Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha‐Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Véronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake

المصدر: EMBO Molecular Medicine, Vol 13, Iss 12, Pp 1-17 (2021)

مصطلحات موضوعية: BET1, epilepsy, GOSR2, muscular dystrophy, SNARE, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

URL الوصول: https://doaj.org/article/36e02f0c64b8417881fabf19320857cf

المؤلفون: Nirmala Dushyanthi Sirisena, U. M. Jayami Eshana Samaranayake, Osorio Lopes Abath Neto, A. Reghan Foley, B. A. P. Sajeewani Pathirana, Nilaksha Neththikumara, C. Sampath Paththinige, Pyara Rathnayake, Sandra Donkervoort, Carsten G. Bönnemann, Vajira H. W. Dissanayake

المصدر: BMC Neurology, Vol 21, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: Case report, COL6A1, Collagen type VI, Consanguineous, Myopathy, Phenotypic heterogeneity, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2377

URL الوصول: https://doaj.org/article/9ccd71ddd43140c09f4f4c38669ff9ed

المؤلفون: Laura K. Case, Jaquette Liljencrantz, Nicholas Madian, Aaron Necaise, Justin Tubbs, Micaela McCall, Megan L. Bradson, Marcin Szczot, Mark H. Pitcher, Nima Ghitani, Eleni Frangos, Jonathan Cole, Diana Bharucha-Goebel, Dimah Saade, Tracy Ogata, Sandra Donkervoort, A. Reghan Foley, Carsten G. Bönnemann, Håkan Olausson, M. Catherine Bushnell, Alexander T. Chesler

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/b005162b0b26483ea9700b4ecfd44b19

المؤلفون: Leslie H. Hayes, Pomi Yun, Payam Mohassel, Gina Norato, Sandra Donkervoort, Meganne E. Leach, Rachel Alvarez, Anne Rutkowski, Natalie D. Shaw, A. Reghan Foley, Carsten G. Bönnemann

المصدر: BMC Pediatrics, Vol 20, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Hypoglycemia, Ketotic hypoglycemia, Congenital muscular dystrophies, Neuromuscular, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/cc66bc3eb49d4cbe95e9f7527450d77a

المؤلفون: Payam Mohassel, Teerin Liewluck, Ying Hu, Daniel Ezzo, Tracy Ogata, Dimah Saade, Sarah Neuhaus, Véronique Bolduc, Yaqun Zou, Sandra Donkervoort, Livija Medne, Charlotte J. Sumner, P. James B. Dyck, Klaas J. Wierenga, Gihan Tennekoon, Richard S. Finkel, Jiani Chen, Thomas L. Winder, Nathan P. Staff, A. Reghan Foley, Manuel Koch, Carsten G. Bönnemann

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 1980-1988 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/8783869b7a1b4355a5a49ddec2739631

المؤلفون: Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni

المصدر: Frontiers in Molecular Neuroscience, Vol 13 (2020)

مصطلحات موضوعية: LAMA2, phenotype, biomarkers, clinical trial, natural history, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnmol.2020.00123/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/d09901b90f1149908251b1101009f4ab

المؤلفون: Andres Nascimento, Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, Jose C. Milisenda, Elicia A. Estrella, Chengcheng Li, Jordi Pijuan, Isabelle Draper, Ying Hu, Seth A. Stafki, Lynn S. Pais, Vijay S. Ganesh, Anne O’Donnell-Luria, Safoora B. Syeda, Laura Carrera-García, Jessica Expósito-Escudero, Delia Yubero, Loreto Martorell, Iago Pinal-Fernandez, Hart G. W. Lidov, Andrew L. Mammen, Josep M. Grau-Junyent, Carlos Ortez, Francesc Palau, Partha S. Ghosh, Basil T. Darras, Cristina Jou, Louis M. Kunkel, Janet Hoenicka, Carsten G. Bönnemann, Peter B. Kang, Daniel Natera-de Benito

المصدر: Acta Neuropathologica. 145:479-496

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::21de0ec17acd69fbb6ebc0cc5f9a3519
https://doi.org/10.1007/s00401-023-02551-7

المؤلفون: Irina T. Zaharieva, Anna Sarkozy, Pinki Munot, Adnan Manzur, GinaO'Grady, John Rendu, Eduardo Malfatti, Helge Amthor, Laurent Servais, J. Andoni Urtizberea, Osorio Abath Neto, Edmar Zanoteli, Sandra Donkervoort, Juliet Taylor, Joanne Dixon, Gemma Poke, A. Reghan Foley, Chris Holmes, Glyn Williams, Muriel Holder, Sabrina Yum, Livija Medne, Susana Quijano-Roy, Norma B. Romero, Julien Fauré, Lucy Feng, Laila Bastaki, Mark R. Davis, Rahul Phadke, Caroline A. Sewry, Carsten G. Bönnemann, Heinz Jungbluth, Christoph Bachmann, Susan Treves, FrancescoMuntoni

المساهمون: Zaharieva, Irina T., Sarkozy, Anna, Munot, Pinki, Manzur, Adnan, Ginao'Grady, Rendu, John, Malfatti, Eduardo, Amthor, Helge, Servais, Laurent, Andoni Urtizberea, J., Abath Neto, Osorio, Zanoteli, Edmar, Donkervoort, Sandra, Taylor, Juliet, Dixon, Joanne, Poke, Gemma, Reghan Foley, A., Holmes, Chri, Williams, Glyn, Holder, Muriel, Yum, Sabrina, Medne, Livija, Quijano-Roy, Susana, Romero, Norma B., Fauré, Julien, Feng, Lucy, Bastaki, Laila, Davis, Mark R., Phadke, Rahul, Sewry, Caroline A., Bönnemann, Carsten G., Jungbluth, Heinz, Bachmann, Christoph, Treves, Susan Nella, Francescomuntoni

مصطلحات موضوعية: congenital myopathy, excitation–contraction coupling, malignant hyperthermia, STAC3

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/30168660; info:eu-repo/semantics/altIdentifier/wos/WOS:000451194400020; volume:39; issue:12; firstpage:1980; lastpage:1994; numberofpages:15; journal:HUMAN MUTATION; info:eu-repo/grantAgreement/EC/H2020/779257; http://hdl.handle.net/11392/2406254; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054709694; https://ora.ox.ac.uk/objects/uuid:54c4177b-aa57-478f-b0d9-a31e1d877de4/download_file?safe_filename=Stac1.pdf&type_of_work=Journal+article

الاتاحة: http://hdl.handle.net/11392/2406254
https://doi.org/10.1002/humu.23635
https://onlinelibrary.wiley.com/doi/10.1002/humu.23635
https://ora.ox.ac.uk/objects/uuid:54c4177b-aa57-478f-b0d9-a31e1d877de4/download_file?safe_filename=Stac1.pdf&type_of_work=Journal+article

المؤلفون: Joel A. Morales-Rosado, Tanya L. Schwab, Sarah K. Macklin-Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehlivan, Sandra Donkervoort, Jill A. Rosenfeld, Grace E. Boyum, Ying Hu, Anh T.Q. Cong, Timothy E. Lotze, Carrie A. Mohila, Dimah Saade, Diana Bharucha-Goebel, Katherine R. Chao, Christopher Grunseich, Christine C. Bruels, Hannah R. Littel, Elicia A. Estrella, Lynn Pais, Peter B. Kang, Michael T. Zimmermann, James R. Lupski, Brendan Lee, Matthew J. Schellenberg, Karl J. Clark, Klaas J. Wierenga, Carsten G. Bönnemann, Eric W. Klee

المصدر: The American Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c499b888e214073eb018b6346f98d839
https://doi.org/10.1016/j.ajhg.2023.04.006

المؤلفون: Nagi, Saad S. (R17429), Marshall, Andrew G., Makdani, Adarsh, Jarocka, Ewa, Liljencrantz, Jaquette, Ridderstrom, Mikael, Shaikh, Sumaiya (S30756), O’Neill, Francis A., Saade, Dimah N., Donkervoort, Sandra, Reghan Foley, A., Minde, Jan K., Trulsson, Mats, Cole, Jonathan D., Bonnemann, Carsten G., Chesler, Alexander T., Bushnell, M. Catherine, McGlone, Francis, Olausson, Hakan

المساهمون: School of Medicine (Host institution)

مصطلحات موضوعية: XXXXXX - Unknown, mammals, mechanoreceptors, pain, skin

وصف الملف: print

Relation: Science Advances--2375-2548 Vol. 5 Issue. 7 No. eaaw1297

الاتاحة: https://doi.org/10.1126/sciadv.aaw1297
http://handle.westernsydney.edu.au:8081/1959.7/uws:52363

المؤلفون: Lomash, Richa Madan, Shchelochkov, Oleg, Chandler, Randy J., Venditti, Charles P., Pariser, Anne R., Ottinger, Elizabeth A., Gilberto V., Averion, Krishna, Balakrishnan, Carsten G., Bönnemann, Philip J., Brooks, Steven J., Burden, Eggerton, Campbell, Catherine, Chen, Eun-Young, Choi, Claire, Driscoll, Oksana, Dukhanina, Susan, Ferry, A. Reghan, Foley, Janelle Geist, Hauserman, Lina, Li, Donald C., Lo, Venkata, Mangalampalli, Irini, Manoli, Christopher, Mendoza, Julien, Oury, Forbes D., Porter, Deanna, Portero, Lili, Portilla, Jachinta, Rooney, Dimah, Saade, Jennifer L., Sloan, Mitali, Tambe, Pramod, Terse, Joshua, Todd, London, Toney, Carol, Van Ryzin, Rodica, Stan, Sury, Vepa, Erik, Wagner, Amy, Wang, Xin, Xu, Yaqun, Zou

المصدر: Human Gene Therapy ; volume 34, issue 5-6, page 217-227 ; ISSN 1043-0342 1557-7422

الاتاحة: http://dx.doi.org/10.1089/hum.2022.232
https://www.liebertpub.com/doi/full-xml/10.1089/hum.2022.232
https://www.liebertpub.com/doi/pdf/10.1089/hum.2022.232

المؤلفون: Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Chamindra G. Konersman, Angela M. Kaindl, Chie-Hee Cho, Bianca Russell, Adrian Rodriguez, K. Wade Foster, A. Reghan Foley, Steven A. Moore, Peter L. Jones, Carsten G. Bonnemann, Takako Jones, Natalie D. Shaw

المصدر: Neurology. 98:e1384-e1396

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cf709b5af4a47797ec6393c630f9f4b3
https://doi.org/10.1212/wnl.0000000000200032

المؤلفون: Carsten G. Bönnemann, Mark R. Cookson, Payam Mohassel, Eleonora Guadagnin, Lin Yang, Prech Uapinyoying, Mariarita Santi, Jahannaz Dastgir, Allissa Dillmann, Ying Hu, Kory R. Johnson, A. Reghan Foley

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2184-2198 (2021)

مصطلحات موضوعية: Muscle tissue, Pathology, medicine.medical_specialty, Muscle biopsy, medicine.diagnostic_test, business.industry, General Neuroscience, Extracellular matrix component, Skeletal muscle, Neurosciences. Biological psychiatry. Neuropsychiatry, medicine.disease, Transcriptome, Extracellular matrix, medicine.anatomical_structure, Collagen VI, Medicine, Neurology. Diseases of the nervous system, Neurology (clinical), Muscular dystrophy, RC346-429, business, Research Articles, RC321-571, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bc8d266ea51de601b84585d5a30722e
http://europepmc.org/articles/PMC8607456