Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Mario A. Saporta"'
Autor:
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
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 3, Pp 629-640 (2024)
Abstract Objective ACTN2, encoding alpha‐actinin‐2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic
Externí odkaz:
https://doaj.org/article/fb0a803a096f45d484f086ba7b3ad84b
Autor:
Melanie J. Plastini, Haritha L. Desu, Maureen C. Ascona, Anna L. Lang, Mario A. Saporta, Roberta Brambilla
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
Multiple sclerosis (MS) is the most common neurological disorder in young adults and is classically defined as a chronic inflammatory demyelinating disease of the central nervous system (CNS). Although MS affects millions of people worldwide, its und
Externí odkaz:
https://doaj.org/article/ddd1152b94984375b60a9db4320d69f4
Autor:
Carissa M. Feliciano, Kenneth Wu, Hannah L. Watry, Chiara B. E. Marley, Gokul N. Ramadoss, Hana Y. Ghanim, Angela Z. Liu, Lyandysha V. Zholudeva, Todd C. McDevitt, Mario A. Saporta, Bruce R. Conklin, Luke M. Judge
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Many neuromuscular disorders are caused by dominant missense mutations that lead to dominant-negative or gain-of-function pathology. This category of disease is challenging to address via drug treatment or gene augmentation therapy because these stra
Externí odkaz:
https://doaj.org/article/1c701f1854d94bbf83e09940f948c98f
Autor:
Samira Abdulai-Saiku, Stanley H. Appel, Arthur P. Arnold, Lisa M. Arnold, Robert M. Arnold, Alexa Bacha, Miroslav 'Misha' Backonja, Zinzi D. Bailey, Lucinda Bateman, David R. Beers, Anna Berti, Mamta Bhatnagar, Devin K. Binder, Marina Boido, Maura Boldrini, David Borsook, Xandra O. Breakefield, Robert H. Brown, Rami Burstein, Eduardo R. Butelman, Louis R. Caplan, S. Chen, Marie-Françoise Chesselet, Stefan Clemens, Paula R. Clemens, Joseph T. Coyle, John C. DeWitt, Dena B. Dubal, Veljko Dubljević, Eva L. Feldman, Beth A. Fischer, M.C. Flux, J.S. Fortin, Angelisa Frasca, Francesca Garbarini, Thomas Gasser, Charles F. Gillespie, Michael S. Gold, Stefan M. Gold, Randi Hagerman, Regan Hamel, Craig Haney, James C. Harris, Sara Hassani, Norman J. Haughey, Vibol Heng, J. Horn, Rosana-Bristena Ionescu, Raffaele Iorio, David J. Irwin, Henry J. Kaminski, Dalia Khammash, Vikram Khurana, Charlotte Kilstrup-Nielsen, Bhumsoo Kim, Boram Kim, Marieke Klein, Nastassja Koen, Glenn T. Konopaske, Joanna A. Korecka, Birgitte Rahbek Kornum, Mary Jeanne Kreek, Krister Kristensson, Grzegorz Krzak, Linda L. Kusner, Nicoletta Landsberger, Edward B. Lee, Tong Li, Paweł P. Liberski, Christine Lochner, Christopher A. Lowry, J. John Mann, Clara Marincowitz, E.A. Mayer, E.D. Mayer, Iris Coates McCall, Louise D. McCullough, Michael J. Meaney, Claudio Melo de Gusmao, Abhishek L. Menesgere, Emmanuel Mignot, William C. Mobley, Mayra Montalvo, Alisha R. Moreland-Capuia, Marco Neppi-Modona, Alexandra M. Nicaise, Rae Nishi, Orna O'Toole, Cassia Overk, Laurie Ozelius, Matthew P. Parsons, H.B. Penticoff, Luca Peruzzotti-Jametti, Owen M. Peters, Allison Peterson, Jessica M. Phan, Sean J. Pittock, Stefano Pluchino, Thad A. Polk, Araya Puwanant, Shreya K. Rajagopal, Vijayalakshmi Ravindranath, Lynn A. Raymond, Brian Reed, Kerry J. Ressler, Diane L. Ritchie, Leah H. Rubin, Stacey A. Sakowski, Mario A. Saporta, Alena V. Savonenko, Helen E. Scharfman, Bruce K. Shapiro, Nutan Sharma, Cayce K. Shaw, Michael E. Shy, Beata Sikorska, Ethan J. Silverman, Roger P. Simon, Kristina Simonyan, Catrina Sims-Robinson, Richard Jay Smeyne, Clay Smith, Colin Smith, Sharan R. Srinivasan, Dan J. Stein, Christopher D. Stephen, Indu Subramanian, Edina Szabo, Alissa A. Thomas, Luis B. Tovar-y-Romo, Arshya Vahabzadeh, Alessandro Vercelli, Ashley Viera-Ortiz, Mitchell T. Wallin, Donna M. Werling, Thomas Wichmann, Clayton A. Wiley, David R. Williams, Cory Willis, Philip C. Wong, Vadim Yuferov, Weihua Zhao, Michael J. Zigmond, Saša A. Živković
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::243fdcc9a4e15e7cb9744b08ed648667
https://doi.org/10.1016/b978-0-323-85654-6.01002-9
https://doi.org/10.1016/b978-0-323-85654-6.01002-9
Autor:
David, Pellerin, Matt C, Danzi, Carlo, Wilke, Mathilde, Renaud, Sarah, Fazal, Marie-Josée, Dicaire, Carolin K, Scriba, Catherine, Ashton, Christopher, Yanick, Danique, Beijer, Adriana, Rebelo, Clarissa, Rocca, Zane, Jaunmuktane, Joshua A, Sonnen, Roxanne, Larivière, David, Genís, Laura, Molina Porcel, Karine, Choquet, Rawan, Sakalla, Sylvie, Provost, Rebecca, Robertson, Xavier, Allard-Chamard, Martine, Tétreault, Sarah J, Reiling, Sara, Nagy, Vikas, Nishadham, Meera, Purushottam, Seena, Vengalil, Mainak, Bardhan, Atchayaram, Nalini, Zhongbo, Chen, Jean, Mathieu, Rami, Massie, Colin H, Chalk, Anne-Louise, Lafontaine, François, Evoy, Marie-France, Rioux, Jiannis, Ragoussis, Kym M, Boycott, Marie-Pierre, Dubé, Antoine, Duquette, Henry, Houlden, Gianina, Ravenscroft, Nigel G, Laing, Phillipa J, Lamont, Mario A, Saporta, Rebecca, Schüle, Ludger, Schöls, Roberta, La Piana, Matthis, Synofzik, Stephan, Zuchner, Bernard, Brais
Publikováno v:
The New England journal of medicine.
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members of three French Canadian families and identified a candidate pathogenic repeat e
Autor:
Anthony N. Cutrupi, Ramesh K. Narayanan, Gonzalo Perez-Siles, Bianca R. Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby CY Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A. Nicholson, Steve Vucic, Mario A. Saporta, Marina L. Kennerson
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and 4 disease loci implicated i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e9424cf6d32b9af3e9f4ab2ce77f068
https://doi.org/10.1101/2022.08.16.504208
https://doi.org/10.1101/2022.08.16.504208
Autor:
Anthony N Cutrupi, Ramesh K Narayanan, Gonzalo Perez-Siles, Bianca R Grosz, Kaitao Lai, Alexandra Boyling, Melina Ellis, Ruby C Y Lin, Brent Neumann, Di Mao, Motonari Uesugi, Garth A Nicholson, Steve Vucic, Mario A Saporta, Marina L Kennerson
Publikováno v:
Brain : a journal of neurology.
Distal hereditary motor neuropathies (dHMNs) are a group of inherited diseases involving the progressive, length-dependent axonal degeneration of the lower motor neurons. There are currently 29 reported causative genes and four disease loci implicate
Autor:
Mario A Saporta
Publikováno v:
Neural Regeneration Research, Vol 10, Iss 6, Pp 894-896 (2015)
Externí odkaz:
https://doaj.org/article/18b4e89c417241b99536928830f386e8
Autor:
Robert W. Burgess, Mario A. Saporta
Publikováno v:
Brain research. 1785