Longitudinal changes in respiratory and upper limb function in a pediatric type III spinal muscular atrophy cohort after loss of ambulation
Wolfe, Amy, Scoto, Mariacristina, Milev, Evelin, Muni Lofra, Robert, Abbott, Lianne, Wake, Ruth, Rohwer, Annemarie, Main, Marion, Baranello, Giovanni, Mayhew, Anna, Marini‐Bettolo, Chiara, Muntoni, Francesco
Published in Muscle & nerve (01.11.2021)
Published in Muscle & nerve (01.11.2021)
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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon‐Gawinska, Karolina, Daron, Aurore, Ulinici, Ana, Vanden Brande, Laura, Seferian, Andreea, Gidaro, Teresa, Scoto, Mariacristina, Deconinck, Nicolas, Servais, Laurent, Benezit, Audrey, Mathieu, Marie‐Laure, Cances, Claude, Durigneux, Julien, Ropars, Juliette, Chouchane, Mondher, Forey, Peggy, Lazaro, Leila, Hughes, Imelda, Illingworth, Marjorie, Marini‐Bettolo, Chiara, Cuppen, Inge, Modrzejewska, Sandra, Balintova, Zdenka, Haberlova, Jana, Drimtzia, Kate, Blaschek, Astrid, Ambegankoar, Gautam, Annoussamy, Melanie
Published in Developmental medicine and child neurology (01.03.2020)
Published in Developmental medicine and child neurology (01.03.2020)
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European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., Carlier, Robert Y.
Published in Journal of neurology (2020)
Published in Journal of neurology (2020)
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Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study
Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Sframeli, Maria, Marini‐Bettolo, Chiara, Sansone, Valeria Ada, Bruno, Claudio, Messina, Sonia, Bertini, Enrico, Baranello, Giovanni, Day, John, Darras, Basil T., De Vivo, Darryl C., Hirano, Michio, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio, Antonaci, Laura, De Sanctis, Roberto, Carnicella, Sara, Forcina, Nicola, Norcia, Giulia, Stanca, Giulia, Fanelli, Lavinia, De Luca, Giacomo, Carlesi, Adelina, Colia, Giulia, Bravetti, Chiara, Rossi, Diletta, Rodriguez‐Torres, Rafael
Published in European journal of neurology (01.08.2024)
Published in European journal of neurology (01.08.2024)
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Wiessner, Manuela, Roos, Andreas, Munn, Christopher J., Viswanathan, Ranjith, Whyte, Tamieka, Cox, Dan, Schoser, Benedikt, Sewry, Caroline, Roper, Helen, Phadke, Rahul, Marini Bettolo, Chiara, Barresi, Rita, Charlton, Richard, Bönnemann, Carsten G., Abath Neto, Osório, Reed, Umbertina C., Zanoteli, Edmar, Araújo Martins Moreno, Cristiane, Ertl-Wagner, Birgit, Stucka, Rolf, De Goede, Christian, Borges da Silva, Tamiris, Hathazi, Denisa, Dell’Aica, Margherita, Zahedi, René P., Thiele, Simone, Müller, Juliane, Kingston, Helen, Müller, Susanna, Curtis, Elizabeth, Walter, Maggie C., Strom, Tim M., Straub, Volker, Bushby, Kate, Muntoni, Francesco, Swan, Laura E., Lochmüller, Hanns, Senderek, Jan
Published in American journal of human genetics (02.03.2017)
Published in American journal of human genetics (02.03.2017)
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Benign and malignant tumors in the UK myotonic dystrophy patient registry
Alsaggaf, Rotana, Wang, Youjin, Marini‐Bettolo, Chiara, Wood, Libby, Nikolenko, Nikoletta, Lochmüller, Hanns, Greene, Mark H., Gadalla, Shahinaz M.
Published in Muscle & nerve (01.02.2018)
Published in Muscle & nerve (01.02.2018)
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Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients
Doorenweerd, Nathalie, de Rover, Mischa, Marini-Bettolo, Chiara, Hollingsworth, Kieren G., Niks, Erik H., Hendriksen, Jos G. M., Kan, Hermien E., Straub, Volker
Published in Brain imaging and behavior (01.10.2021)
Published in Brain imaging and behavior (01.10.2021)
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Clinical Variability in Spinal Muscular Atrophy Type III
Coratti, Giorgia, Messina, Sonia, Lucibello, Simona, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Bovis, Francesca, Exposito Escudero, Jessica, Mazzone, Elena Stacy, Mayhew, Anna, Glanzman, Allan M., Young, Sally Dunaway, Salazar, Rachel, Duong, Tina, Muni Lofra, Robert, De Sanctis, Roberto, Carnicella, Sara, Milev, Evelin, Civitello, Matthew, Pane, Marika, Scoto, Mariacristina, Bettolo, Chiara Marini, Antonaci, Laura, Frongia, Annalia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, Van Den Hauwe, Marleen, Albamonte, Emilio, Goemans, Nathalie, Darras, Basil T., Bertini, Enrico, Sansone, Valeria, Day, John, Nascimento Osorio, Andres, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S., Mercuri, Eugenio
Published in Annals of neurology (01.12.2020)
Published in Annals of neurology (01.12.2020)
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An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy
Segarra-Casas, Alba, Yépez, Vicente A, Demidov, German, Laurie, Steven, Esteve-Codina, Anna, Gagneur, Julien, Parkhurst, Yolande, Muni-Lofra, Robert, Harris, Elizabeth, Marini-Bettolo, Chiara, Straub, Volker, Töpf, Ana
Published in International journal of molecular sciences (16.07.2024)
Published in International journal of molecular sciences (16.07.2024)
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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
Schiava, Marianela, Lofra, Robert Muni, Bourke, John P., Díaz‐Manera, Jordi, James, Meredith K., Elseed, Maha A., Malinova, Monika, Michel‐Sodhi, Jassi, Moat, Dionne, Ghimenton, Elisabetta, Mccallum, Michelle, Díaz, Carla Florencia Bolaño, Mayhew, Anna, Wong, Karen, Richardson, Mark, Tasca, Giorgio, Eglon, Gail, Eagle, Michelle, Turner, Cathy, Heslop, Emma, Straub, Volker, Bettolo, Chiara Marini, Guglieri, Michela
Published in European journal of neurology (01.06.2024)
Published in European journal of neurology (01.06.2024)
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Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
Piñol-Jurado, Patricia, Verdú-Díaz, José, Fernández-Simón, Esther, Domínguez-González, Cristina, Hernández-Lain, Aurelio, Lawless, Conor, Vincent, Amy, González-Chamorro, Alejandro, Villalobos, Elisa, Monceau, Alexandra, Laidler, Zoe, Mehra, Priyanka, Clark, James, Filby, Andrew, McDonald, David, Rushton, Paul, Bowey, Andrew, Alonso Pérez, Jorge, Tasca, Giorgio, Marini-Bettolo, Chiara, Guglieri, Michela, Straub, Volker, Suárez-Calvet, Xavier, Díaz-Manera, Jordi
Published in Scientific reports (09.02.2024)
Published in Scientific reports (09.02.2024)
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Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
Suárez-Calvet, Xavier, Fernández-Simón, Esther, Natera, Daniel, Jou, Cristina, Pinol-Jurado, Patricia, Villalobos, Elisa, Ortez, Carlos, Monceau, Alexandra, Schiava, Marianela, Codina, Anna, Verdu-Díaz, José, Clark, James, Laidler, Zoe, Mehra, Priyanka, Gokul-Nath, Rasya, Alonso-Perez, Jorge, Marini-Bettolo, Chiara, Tasca, Giorgio, Straub, Volker, Guglieri, Michela, Nascimento, Andrés, Diaz-Manera, Jordi
Published in Cell death & disease (07.09.2023)
Published in Cell death & disease (07.09.2023)
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Influence of the corticospinal tract on the cutaneous silent period: A study in patients with pyramidal syndrome
Gilio, Francesca, Bettolo, Chiara Marini, Conte, Antonella, Iacovelli, Elisa, Frasca, Vittorio, Serrao, Mariano, Giacomelli, Elena, Gabriele, Maria, Prencipe, Massimiliano, Inghilleri, Maurizio
Published in Neuroscience letters (12.03.2008)
Published in Neuroscience letters (12.03.2008)
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The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research
Wood, Libby, Cordts, Isabell, Atalaia, Antonio, Marini-Bettolo, Chiara, Maddison, Paul, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Hammans, Simon, Straub, Volker, Petty, Richard, Orrell, Richard, Monckton, Darren G., Nikolenko, Nikoletta, Jimenez-Moreno, Aura Cecilia, Thompson, Rachel, Hilton-Jones, David, Turner, Chris, Lochmüller, Hanns
Published in Journal of neurology (01.05.2017)
Published in Journal of neurology (01.05.2017)
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Consensus-based care recommendations for congenital and childhood-onset myotonic dystrophy type 1
Johnson, Nicholas E, Aldana, Eugenio Zapata, Angeard, Nathalie, Ashizawa, Tetsuo, Berggren, Kiera N, Marini-Bettolo, Chiara, Duong, Tina, Ekström, Anne-Berit, Sansone, Valeria, Tian, Cuixia, Hellerstein, Leah, Campbell, Craig
Published in Neurology. Clinical practice (01.10.2019)
Published in Neurology. Clinical practice (01.10.2019)
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Real-World Data on Access to Standards of Care for People With Spinal Muscular Atrophy in the UK
Muni-Lofra, Robert, Murphy, Lindsay B, Adcock, Kate, Farrugia, Maria E, Irwin, Joseph, Lilleker, James B, McConville, John, Merrison, Andria, Parton, Matt, Ryburn, Liz, Scoto, Mariacristina, Marini-Bettolo, Chiara, Mayhew, Anna
Published in Frontiers in neurology (30.05.2022)
Published in Frontiers in neurology (30.05.2022)
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Reproductive Cancer Risk Factors in Women With Myotonic Dystrophy (DM): Survey Data From the US and UK DM Registries
Higgs, Cecilia, Hilbert, James E., Wood, Libby, Martens, William B., Marini-Bettolo, Chiara, Nikolenko, Nikoletta, Alsaggaf, Rotana, Lochmüller, Hanns, Moxley, Richard T., Greene, Mark H., Wang, Youjin, Gadalla, Shahinaz M.
Published in Frontiers in neurology (11.10.2019)
Published in Frontiers in neurology (11.10.2019)
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Asymmetric responses to repetitive transcranial magnetic stimulation (rTMS) over the left and right primary motor cortex in a patient with lateralized progressive limb-kinetic apraxia
Gilio, Francesca, Iacovelli, Elisa, Conte, Antonella, Frasca, Vittorio, Gabriele, Maria, Giacomelli, Elena, Bettolo, Chiara Marini, Scaldaferri, Nicola, Trebbastoni, Alessandro, Prencipe, Massimiliano, Inghilleri, Maurizio
Published in Neuroscience letters (30.05.2008)
Published in Neuroscience letters (30.05.2008)
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Effects of repetitive transcranial magnetic stimulation on spike-and-wave discharges
Conte, Antonella, Gilio, Francesca, Iacovelli, Elisa, Bettolo, Chiara Marini, Di Bonaventura, Carlo, Frasca, Vittorio, Carbone, Antonio, Prencipe, Massimiliano, Berardelli, Alfredo, Inghilleri, Maurizio
Published in Neuroscience research (2007)
Published in Neuroscience research (2007)
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129 Limb girdle muscular dystrophy R12 (LGMD 2L, anoctaminopathy) presenting as refractory myositis: a case series
Marago, Italo, Chinoy, Hector, Roberts, Mark, Roncaroli, Federico, Duplessis, Daniel, Marini-Bettolo, Chiara, Lilleker, James
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2022)
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