المؤلفون: Giorgia Coratti, Costanza Cutrona, Maria Carmela Pera, Francesca Bovis, Marta Ponzano, Fabrizia Chieppa, Laura Antonaci, Valeria Sansone, Richard Finkel, Marika Pane, Eugenio Mercuri

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Spinal muscular atrophy, Critical review, Nusinersen, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/7052ee4c081f4655ba5496e0f865c713

المؤلفون: Alberto Albanese, Albert Christian Ludolph, Christopher J. McDermott, Philippe Corcia, Philip Van Damme, Leonard H. Van den Berg, Orla Hardiman, Gilberto Rinaldi, Nicola Vanacore, Brian Dickie, TUDCA-ALS Study Group, Paolo Tornese, Antoniangela Cocco, Maria Lo Giudice, Michela Matteoli, Eliana Lauranzano, Maria Luisa Malosio, Chiara Adriana Elia, Flavia Lombardo, Flavia Mayer, Maria Puopolo, Stefania Spila Alegiani, Adriano Chiò, Umberto Manera, Cristina Moglia, Andrea Calvo, Paolina Salamone, Giuseppe Fuda, Carlo Colosimo, Cristina Spera, Prabha Cristina Ranchicchio, Giuseppe Stipa, Domenico Frondizi, Christian Lunetta, Valeria Sansone, Claudia Tarlarini, Francesca Gerardi, Vincenzo Silani, Alberto Doretti, Eleonora Colombo, Gianluca Demirtzidis, Gioacchino Tedeschi, Francesca Trojsi, Carla Passaniti, Stefania Ballestrero, Johannes Dorst, Ulrike Weiland, Andrea Fromm, Maximilian Wiesenfarth, Katharina Kandler, Simon Witzel, Markus Otto, Joachim Schuster, Thomas Meyer, André Maier, Dagmar Kettemann, Susanne Petri, Lars Müschen, Camilla Wohnrade, Anastasia Sarikidi, Alma Osmanovic, Julian Grosskreutz, Annekathrin Rödiger, Robert Steinbach, Benjamin Ilse, Uta Smesny, Robert Untucht, René Günther, Maximilian Vidovic, Pamela Shaw, Alexis Collins, Helen Wollff, Theresa Walsh, Lee Tuddenham, Mbombe Kazoka, David White, Stacy Young, Benjamin Thompson, Daniel Madarshahian, Suresh K. Chhetri, Amina Chaouch, Carolyn A. Young, Heike Arndt, Oliver C Hanemann, Thomas Lambert, Stephane Beltran, Philippe Couratier, Florence Esselin, William Camu, Elisa De, La Cruz, Gwendal Lemasson, Pegah Masrori, Sinead Maguire, Liz Fogarty, Toyosi Atoyebi, Niamh Ní Obáin

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: amyotrophic lateral sclerosis, therapy, clinical trial, phase III, bile acids, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.1009113/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/499f4c22c4474ff6bbb12e36ba086577

المؤلفون: Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni

المصدر: Journal of Clinical Medicine, Vol 12, Iss 5, p 1920 (2023)

مصطلحات موضوعية: motor function, natural history, spinal muscular atrophy, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/12/5/1920; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/6627d452f8534ca9a909127dd9074e1b

المؤلفون: Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: dystrophin, muscular dystrophy, nationwide study, exon skipping therapy, read-through therapy, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00131/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/35ed134ecc004b5db2961704c8d9c79a

المؤلفون: Stefania Scarlino, Teuta Domi, Laura Pozzi, Alessandro Romano, Giovanni Battista Pipitone, Yuri Matteo Falzone, Lorena Mosca, Silvana Penco, Christian Lunetta, Valeria Sansone, Lucio Tremolizzo, Raffaella Fazio, Federica Agosta, Massimo Filippi, Paola Carrera, Nilo Riva, Angelo Quattrini

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 9, p 3346 (2020)

مصطلحات موضوعية: motor neuron disease, lower motor neuron syndrome, nerve, neuropathy, CMT, distal SMA, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/9/3346; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/08daead3fd0e46f4ad1b53e9526f06ae

المؤلفون: Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri

المصدر: PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6010252?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/cc1aff978b914be49b61d84545d3c9c7

المؤلفون: Elena Dozio, Elena Passeri, Rosanna Cardani, Stefano Benedini, Carmen Aresta, Rea Valaperta, Massimiliano Corsi Romanelli, Giovanni Meola, Valeria Sansone, Sabrina Corbetta

المصدر: Frontiers in Endocrinology, Vol 8 (2017)

مصطلحات موضوعية: myotonic distrophies, myotubes, irisin, fat mass, insulin resistance, bone density, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: http://journal.frontiersin.org/article/10.3389/fendo.2017.00320/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/03237d7a097f4be79a410a3596b10a92

المؤلفون: Andrea Barp, Elena Carraro, Francesca Salmin, Andrea Lizio, Marta Cheli, Valeria Sansone

المصدر: Muscle & Nerve. 67:401-406

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Physiology, Physiology (medical), Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::635ee3ffc678b2c0e8a98bf4c3b450de
https://doi.org/10.1002/mus.27809

المؤلفون: Doris G. Leung, June Kinoshita, Jamshid Arjomand, Julie Dumonceaux, Russell J Butterfield, Amy E. Campbell, Yi-Wen Chen, Frederique Magdinier, Valeria Sansone, Giorgio Tasca, Yegor Vassetzky, Lindsay M. Wallace

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), AFM Telethon , AMRA , Armatus Bio , Arrowhead Pharmaceuticals ,Avidity Biosciences , Dyne Therapeutics , FSHD Canada Foundation ,Fulcrum Therapeutics , James Chin , Sr. Scholarship Fund , MDA(Muscular Dystrophy Association) , miRecule , National Instituteof Health (NIH) , Perkin Elmer Genomics , Ultragenyx , Universityof Massachusetts Wellstone Center for FSH Muscular DystrophyResearch

المصدر: The 2022 FSHD International Research Congress
The 2022 FSHD International Research Congress, Jun 2022, ORLANDO, Florida, United States. pp.196-198, ⟨10.1016/j.nmd.2022.12.005⟩

مصطلحات موضوعية: [SDV.GEN]Life Sciences [q-bio]/Genetics, Neurology, [SDV]Life Sciences [q-bio], Pediatrics, Perinatology and Child Health, Neurology (clinical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fea84b21e02b8e7d9a22388fad6248e
https://doi.org/10.1016/j.nmd.2022.12.005

المؤلفون: Oriana Ciani, Michela Meregaglia, Mario Alberto Battaglia, Gianpaolo Brichetto, Antonella Conte, Claudio Gasperini, Valeria Sansone

المصدر: Neurological Sciences.

مصطلحات موضوعية: Psychiatry and Mental health, Neurology (clinical), Dermatology, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bd25e1cc764d4a1bc0b71b2e93a14c3a
https://doi.org/10.1007/s10072-023-06825-6