Search Results - "Neuromuscular disorders : NMD"

224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016 by Allenbach, Yves, Mammen, Andrew L., Benveniste, Olivier, Stenzel, Werner, Allenbach, Yves, Amato, Anthony, Aussey, Audrey, Benveniste, Olivier, De Bleecker, Jan, de Groot, Ingrid, de Visser, Marianne, Goebel, Hans, Hervier, Baptiste, Fischer, Norina, Hilton-Jones, David, Lamb, Janice, Lundberg, Ingrid, Mammen, Andrew, Mozaffar, Tahseen, Nishino, Ichizo, Pestronk, Alan, Schara, Ulrike, Stenzelr, Werner

“…•Three distinct subtypes of immune-mediated necrotizing myopathies are defined.•New pathological criteria for immune-mediated necrotizing myopathies are…”
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Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study by De Vivo, Darryl C., Bertini, Enrico, Swoboda, Kathryn J., Hwu, Wuh-Liang, Crawford, Thomas O., Finkel, Richard S., Kirschner, Janbernd, Kuntz, Nancy L., Parsons, Julie A., Ryan, Monique M., Butterfield, Russell J., Topaloglu, Haluk, Ben-Omran, Tawfeg, Sansone, Valeria A., Jong, Yuh-Jyh, Shu, Francy, Staropoli, John F., Kerr, Douglas, Sandrock, Alfred W., Stebbins, Christopher, Petrillo, Marco, Braley, Gabriel, Johnson, Kristina, Foster, Richard, Gheuens, Sarah, Bhan, Ishir, Reyna, Sandra P., Fradette, Stephanie, Farwell, Wildon

“…•NURTURE is an ongoing study of nusinersen started in a presymptomatic stage of SMA.•All infants were ≥25 months old, and alive without permanent…”
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Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care by Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Qian, Ying, Sejersen, Thomas, Muntoni, Francesco, Wirth, Brunhilde, Tiziano, Francesco Danilo, Kirschner, Janbernd, Tizzano, Eduardo, Topaloglu, Haluk, Swoboda, Kathy, Laing, Nigel, Kayoko, Saito, Prior, Thomas, Chung, Wendy K., Wu, Shou-Mei, Montes, Jacqueline, Mazzone, Elena, Main, Marion, Coleman, Caron, Gee, Richard, Glanzman, Allan, Kroksmark, Anna-Karin, Krosschell, Kristin, Nelson, Leslie, Rose, Kristy, Stępień, Agnieszka, Vuillerot, Carole, Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Dubousset, Jean, Farrington, David, Flynn, Jack, Halanski, Matthew, Hasler, Carol, Miladi, Lotfi, Reilly, Christopher, Roye, Benjamin, Sponseller, Paul, Yazici, Muharrem, Hurst, Rebecca, Bertini, Enrico, Tarrant, Stacey, Barja, Salesa, Bertoli, Simona, Crawford, Thomas, Foust, Kevin, Kyle, Barbara, Rodan, Lance, Roper, Helen, Seffrood, Erin, Swoboda, Kathryn, Szlagatys-Sidorkiewicz, Agnieszka

“…•We report an update on standards of care recommendations for spinal muscular atrophy.•The paper provides a review of the recent literature.•Expert opinion is…”
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Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics by Finkel, Richard S., Mercuri, Eugenio, Meyer, Oscar H., Simonds, Anita K., Schroth, Mary K., Graham, Robert J., Kirschner, Janbernd, Iannaccone, Susan T., Crawford, Thomas O., Woods, Simon, Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, Davis, Rebecca Hurst, Qian, Ying, Sejersen, Thomas

“…•We report an update on standards of care recommendations for spinal muscular atrophy.•The paper provides a review of the recent literature.•Expert opinion is…”
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Rhabdomyolysis: Review of the literature by Zutt, R, van der Kooi, A.J, Linthorst, G.E, Wanders, R.J.A, de Visser, M

“…Highlights • Summary of the pathophysiology, clinical presentation, aetiology, diagnosis, and management of rhabdomyolysis. • Comprehensive overview of…”
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Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases by Calucho, Maite, Bernal, Sara, Alías, Laura, March, Francesca, Venceslá, Adoración, Rodríguez-Álvarez, Francisco J., Aller, Elena, Fernández, Raquel M., Borrego, Salud, Millán, José M., Hernández-Chico, Concepción, Cuscó, Ivon, Fuentes-Prior, Pablo, Tizzano, Eduardo F.

“…•The largest series of SMA patients for which SMN2 copy number has been determined.•All relevant studies published on the correlation SMN2 copy-SMA phenotype…”
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229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017 by Straub, Volker, Murphy, Alexander, Udd, Bjarne, Corrado, Angelini, Aymé, Ségolène, Bönneman, Carsten, de Visser, Marianne, Hamosh, Ada, Jacobs, Laura, Khizanishvili, Nina, Kroneman, Madelon, Laflorêt, Pascal, Murphy, Alex, Nigro, Vincenzo, Rufibach, Laura, Sarkozy, Anna, Swanepoel, Shaun, Torrente, Ivan, Udd, Bjarne, Urtizberea, Andoni, Vissing, John, Walter, Maggie

“…•A consensus was reached on an updated definition of LGMD, and current sub-types were evaluated by application of the updated definition.•Consensus was reached…”
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Histological effects of givinostat in boys with Duchenne muscular dystrophy by Bettica, Paolo, Petrini, Stefania, D'Oria, Valentina, D'Amico, Adele, Catteruccia, Michela, Pane, Marika, Sivo, Serena, Magri, Francesca, Brajkovic, Simona, Messina, Sonia, Vita, Gian Luca, Gatti, Barbara, Moggio, Maurizio, Puri, Pier Lorenzo, Rocchetti, Maurizio, De Nicolao, Giuseppe, Vita, Giuseppe, Comi, Giacomo P, Bertini, Enrico, Mercuri, Eugenio

“…Highlights • HDAC hyperactivity is part of DMD pathogenesis. Givinostat is an HDAC inhibitor. • Givinostat increased muscle and decreased fibrosis and fat…”
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239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018 by Mammen, Andrew L., Allenbach, Yves, Stenzel, Werner, Benveniste, Olivier, Allenbach, Yves, Benveniste, Olivier, Bleecker, Jan De, Boyer, Olivier, Casciola-Rosen, Livia, Christopher-Stine, Lisa, Damoiseaux, Jan, Gitiaux, Cyril, Fujimoto, Manabu, Lamb, Janine, Landon-Cardinal, Océane, E. Lundberg, Ingrid, Mammen, Andrew, Nishino, Ichizo, Radke, Josefine, Selva-O'Callaghan, Albert, Stenzel, Werner, Vencovsky, Jiri, de Visser, Marianne, Wang, Guochun, Wedderburn, Lucy, Werth, Victoria

“…•Dermatomyositis-specific autoantibodies define unique clinical phenotypes.•Standardized autoantibody detection methods are needed.•Patients with…”
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Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go by Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, Osredkar, Damjan, Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni

“…•Newborn screening for SMA is performed today in 9 countries.•Fewer than 2% of the newborns of the whole world are currently screened for SMA.•Respondents are…”
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Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials by Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S, Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M, Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T, Bertini, Enrico, Muntoni, Francesco, De Vivo, Darryl C

“…Highlights • The paper reports for the first time patterns of progression in type 2 and 3 SMA. • Different trajectories can be identified in ambulant and…”
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Developmental milestones in type I spinal muscular atrophy by De Sanctis, Roberto, Coratti, Giorgia, Pasternak, Amy, Montes, Jacqueline, Pane, Marika, Mazzone, Elena S, Young, Sally Dunaway, Salazar, Rachel, Quigley, Janet, Pera, Maria C, Antonaci, Laura, Lapenta, Leonardo, Glanzman, Allan M, Tiziano, Danilo, Muntoni, Francesco, Darras, Basil T, De Vivo, Darryl C, Finkel, Richard, Mercuri, Eugenio

“…Highlights • The paper reports patterns of natural progression in type 1 SMA. • This is the first time the HINE is used to capture possible changes motor…”
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Fatigue in patients with myasthenia gravis. A systematic review of the literature by Ruiter, Annabel M., Verschuuren, Jan J.G.M., Tannemaat, Martijn R.

“…•Central fatigue is highly prevalent in autoimmune Myasthenia Gravis.•There is a strong association with disease severity, female gender and depressive…”
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Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study by Pena, Loren D.M., Barohn, Richard J., Byrne, Barry J., Desnuelle, Claude, Goker-Alpan, Ozlem, Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pestronk, Alan, Pouget, Jean, Schoser, Benedikt, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, Vissing, John, Young, Peter, Kacena, Katherine, Shafi, Raheel, Thurberg, Beth L., Culm-Merdek, Kerry, van der Ploeg, Ans T.

“…•Avalglucosidase alfa (neoGAA) had a well-tolerated safety profile in LOPD patients.•Respiratory and functional capacities were stable or improved in most…”
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MYO-MRI diagnostic protocols in genetic myopathies by Warman Chardon, Jodi, Díaz-Manera, Jordi, Tasca, Giorgio, Bönnemann, Carsten G., Gómez-Andrés, David, Heerschap, Arend, Mercuri, Eugenio, Muntoni, Francesco, Pichiecchio, Anna, Ricci, Enzo, Walter, Maggie C., Hanna, Michael, Jungbluth, Heinz, Morrow, Jasper M., Fernández-Torrón, Roberto, Udd, Bjarne, Vissing, John, Yousry, Tarek, Quijano-Roy, Susana, Straub, Volker, Carlier, Robert Y

“…•Whole body MRI (WBMRI) is an important imaging biomarker for myopathies.•Different mutations within the same gene can have different clinical WBMRI…”
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A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy by Mah, Jean K, Korngut, Lawrence, Dykeman, Jonathan, Day, Lundy, Pringsheim, Tamara, Jette, Nathalie

“…Abstract The muscular dystrophies are a broad group of hereditary muscle diseases with variable severity. Population-based prevalence estimates have been…”
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Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen by Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio

“…•Real world data on functional changes following nusinersen treatment are needed.•At 12 months from the 1st dose of nusinersen, functional increase was…”
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Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function by Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, de Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio

“…•Report longitudinal experience of using Nusinersen in 104 type 1 SMA patients.•Patients were assessed using the CHOP INTEND and the HINE-II.•Improvements were…”
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The 2023 version of the gene table of neuromuscular disorders (nuclear genome) by Benarroch, Louise, Bonne, Gisèle, Rivier, François, Hamroun, Dalil

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228th ENMC International Workshop:: Airway clearance techniques in neuromuscular disorders Naarden, The Netherlands, 3–5 March, 2017 by Toussaint, Michel, Chatwin, Michelle, Gonzales, Jesus, Berlowitz, David J., Toussaint, Michel, Chatwin, Michelle, Gonzales, Jesus, Berlowitz, David, Lacombe, Mathieu, Goncalves, Miguel, Bonnier, Malin Nygren, Sheers, Nicole, Andersen, Tiina, Sancho, Jesus, Fauroux, Brigitte, Pernet, Kurt, Hov, Brit, Kampelmacher, Mike, Villanova, Marcello, Rao, Fabrizio, Morrow, Brenda, Sheehan, Daniel W., Devaux, Christian, Kinnett, Kathi, Chaulet, Johann

“…•This report provides with an algorithmic approach to ACT management in NMDs.•ACTs are employed to compensate for weak respiratory muscles in people with…”
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