المؤلفون: Gianmarco Severa, Maria del Carmen Alfaro, Christophe Alimi Ichola, Hussein Shoaito, Sarah Souvannanorath, François-Jerôme Authier, Edoardo Malfatti

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: SMA, Risdiplam, MFM32, Outcome measure, PROs, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/69314ef67955413389a14a593c50a8b3

المؤلفون: Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F. Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera De Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A. Kurbatov, Tania Attie‐Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese

المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 10, Pp 2745-2755 (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/56fcca32800d4caeb1e23bc0b7d6e783

المؤلفون: Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

المصدر: Stem Cell Research, Vol 80, Iss , Pp 103491- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124001892; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/3d5d74df28c54775a784033792ebea4b

المؤلفون: Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

المصدر: Stem Cell Research, Vol 77, Iss , Pp 103410- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124001089; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/83937e9ad64641f5b8a74afaa10b22c6

المؤلفون: Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

المصدر: Stem Cell Research, Vol 77, Iss , Pp 103411- (2024)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124001090; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/a2f31142d3c04bd2b691d66e91321b37

المؤلفون: Emmanuelle Salort-Campana, Guilhem Solé, Armelle Magot, Céline Tard, Jean-Baptiste Noury, Anthony Behin, Elisa De La Cruz, François Boyer, Claire Lefeuvre, Marion Masingue, Louise Debergé, Armelle Finet, Mélanie Brison, Marco Spinazzi, Antoine Pegat, Sabrina Sacconi, Edoardo Malfatti, Ariane Choumert, Rémi Bellance, Anne-Laure Bedat-Millet, Léonard Feasson, Carole Vuillerot, Agnès Jacquin-Piques, Maud Michaud, Yann Pereon, Tanya Stojkovic, Pascal Laforêt, Shahram Attarian, Pascal Cintas

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Spinal muscular atrophy, SMA, Multidisciplinary team meeting, Clinical decision-making, Treatment, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/b995c184e3d74c469752208af81f61fa

المؤلفون: Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Ciryl Gitiaux, Christine Barnerias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François-Jerome Authier, Chiara Fiorillo, Frederic Relaix, Edoardo Malfatti

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)

مصطلحات موضوعية: Duchenne muscular dystrophy, Fibrosis, FAPs, Muscle regeneration, Cellular senescence, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/b6d306702c484b0da14b8cd7bffee00a

المؤلفون: Kumudesh Mishra, Sahar Sweetat, Saja Baraghithy, Uri Sprecher, Monzer Marisat, Sultan Bastu, Hava Glickstein, Joseph Tam, Hanna Rosenmann, Miguel Weil, Edoardo Malfatti, Or Kakhlon

المصدر: Biomolecules, Vol 14, Iss 8, p 893 (2024)

مصطلحات موضوعية: glycogen, glycogen storage disease type III, pharmacotherapy, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/8/893; https://doaj.org/toc/2218-273X

URL الوصول: https://doaj.org/article/73e5be5b00194bf9b242473aca67c83c

المؤلفون: Karrison Driver, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton

المصدر: Stem Cell Research, Vol 73, Iss , Pp 103258- (2023)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506123002441; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/b7c641e3388f4b1b896aa00fec23de72

المؤلفون: Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti

المصدر: Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Congenital myopathy, Titin, Titinopathy, Rigid spine, Metatranscript, N2A titin isoform, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/5fea3216d6b44beab3e6bcbaf02277ca

المؤلفون: Glenn Carrington, Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico, Peter Van den Bergh, Norma B. Romero, Edoardo Malfatti, Juan Jesus Vilchez, Anders Oldfors, Sander Pajusalu, Katrin Õunap, Marta Giralt-Pujol, Edmar Zanoteli, Kenneth S. Campbell, Hiroyuki Iwamoto, Michelle Peckham, Julien Ochala

المصدر: JCI Insight, Vol 8, Iss 21 (2023)

مصطلحات موضوعية: Muscle biology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/59ff4fd339fd4cbaa9a588a2470f9192

المؤلفون: Marion Onnée, Audrey Bénézit, Sultan Bastu, Aleksandra Nadaj-Pakleza, Béatrice Lannes, Flavie Ader, Corinne Thèze, Pascal Cintas, Claude Cances, Robert-Yves Carlier, Corinne Metay, Mireille Cossée, Edoardo Malfatti

المصدر: Biomedicines, Vol 12, Iss 2, p 322 (2024)

مصطلحات موضوعية: cardiomyopathy, myopathy, FLNC, mutation, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/2/322; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/2c608c330d9249089f5423cc46bc3bca

المؤلفون: Valentina Taglietti, Kaouthar Kefi, Iwona Bronisz-Budzyńska, Busra Mirciloglu, Mathilde Rodrigues, Nastasia Cardone, Fanny Coulpier, Baptiste Periou, Christel Gentil, Melissa Goddard, François-Jérôme Authier, France Pietri-Rouxel, Edoardo Malfatti, Peggy Lafuste, Laurent Tiret, Frederic Relaix

المصدر: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-19 (2022)

مصطلحات موضوعية: Duchenne muscular dystrophy, Skeletal muscle, Preclinical modelling, Translational medicine, Long QT, scRNAseq, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/6cbf8c2ff6e74057aa1f56f8f006ff18

المؤلفون: Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

المصدر: Stem Cell Research, Vol 63, Iss , Pp 102829- (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122001787; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/29fa7d240b274f9c9f95ed0974db0291

المؤلفون: Isabella S. Suleski, Robert Smith, Christina Vo, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Nigel G. Laing, Rhonda L. Taylor, Joshua S. Clayton

المصدر: Stem Cell Research, Vol 63, Iss , Pp 102830- (2022)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506122001799; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/84bf78f45a364a2e8ac239d059749486

المؤلفون: Chiara Fiorillo, Edoardo Malfatti, Giovanni Meola

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: muscle biopsy, NGS, congenital myopathies, floppy infant, TNPO3, RYR1, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1004562/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/114fce821c2e4141a1f69a5d0d173886

المؤلفون: Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Edoardo Malfatti

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: congenital myasthenic syndrome, CHRNE, neuromuscular junction, β2 adrenergic agonists, salbutamol, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.909715/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/2d021aa9abe64deb8d77e3147c6f7f0a

المؤلفون: Aurélien Perrin, Corinne Metay, Marcello Villanova, Robert‐Yves Carlier, Elena Pegoraro, Raul Juntas Morales, Tanya Stojkovic, Isabelle Richard, Pascale Richard, Norma B. Romero, Henk Granzier, Michel Koenig, Edoardo Malfatti, Mireille Cossée

المصدر: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 846-854 (2020)

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/a55c80afb6a34fee80ea91d426340250

المؤلفون: Andreas Marg, Helena Escobar, Nikos Karaiskos, Stefanie A. Grunwald, Eric Metzler, Janine Kieshauer, Sascha Sauer, Diana Pasemann, Edoardo Malfatti, Dominique Mompoint, Susanna Quijano-Roy, Anastasiya Boltengagen, Joanna Schneider, Markus Schülke, Séverine Kunz, Robert Carlier, Carmen Birchmeier, Helge Amthor, Andreas Spuler, Christine Kocks, Nikolaus Rajewsky, Simone Spuler

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/ce96cb57dae14384b0b97d2a3e6fda84

المؤلفون: Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, Nathalie Streichenberger, Sarah Leonard-Louis, Guy Brochier, Angeline Madelaine, Clemence Labasse, Carola Hedberg-Oldfors, Thomas Krag, Louisa Jauze, Julien Fabregue, Philippe Labrune, Jose Milisenda, Aleksandra Nadaj-Pakleza, Sabrina Sacconi, Federico Mingozzi, Giuseppe Ronzitti, François Petit, Benedikt Schoser, Anders Oldfors, John Vissing, Norma B. Romero, Ichizo Nishino, Edoardo Malfatti

المصدر: Acta Neuropathologica Communications, Vol 7, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Glycogen storage disease III, Muscle glycogenosis, Metabolic myopathies, Myopathology, Autophagy, Autophagic impairment, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-019-0815-2; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/93fd2c97c0914ab89cce0bad8ec56750