Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular Dystrophy
Finanger, Erika, Vandenborne, Krista, Finkel, Richard S., Lee Sweeney, H., Tennekoon, Gihan, Yum, Sabrina, Mancini, Maria, Bista, Pradeep, Nichols, Andrew, Liu, Hanlan, Fretzen, Angelika, Donovan, Joanne M.
Published in Journal of neuromuscular diseases (01.01.2019)
Published in Journal of neuromuscular diseases (01.01.2019)
Get full text
Journal Article
Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy
Gros, Marilyn, Nunes, Andreia M., Daoudlarian, Douglas, Pini, Jonathan, Martinuzzi, Emanuela, Barbosa, Susana, Ramirez, Monique, Puma, Angela, Villa, Luisa, Cavalli, Michele, Grecu, Nicolae, Garcia, Jérémy, Siciliano, Gabriele, Solé, Guilhem, Juntas-Morales, Raul, Jones, Peter L., Jones, Takako, Glaichenhaus, Nicolas, Sacconi, Sabrina
Published in Journal of neuromuscular diseases (01.01.2022)
Published in Journal of neuromuscular diseases (01.01.2022)
Get full text
Journal Article
Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles
Alameddine, Hala S., Morgan, Jennifer E.
Published in Journal of Neuromuscular Diseases (29.11.2016)
Published in Journal of Neuromuscular Diseases (29.11.2016)
Get full text
Book Review
Journal Article
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy
Bello, Luca, Sabbatini, Daniele, Fusto, Aurora, Gorgoglione, Domenico, Borin, Giovanni Umberto, Penzo, Martina, Riguzzi, Pietro, Villa, Matteo, Vianello, Sara, Calore, Chiara, Melacini, Paola, Vio, Riccardo, Barp, Andrea, D’Angelo, Grazia, Gandossini, Sandra, Politano, Luisa, Berardinelli, Angela, Messina, Sonia, Vita, Gian Luca, Pedemonte, Marina, Bruno, Claudio, Albamonte, Emilio, Sansone, Valeria, Baranello, Giovanni, Masson, Riccardo, Astrea, Guja, D’Amico, Adele, Bertini, Enrico, Pane, Marika, Lucibello, Simona, Mercuri, Eugenio, Spurney, Christopher, Clemens, Paula, Morgenroth, Lauren, Gordish-Dressman, Heather, McDonald, Craig M., Hoffman, Eric P., Pegoraro, Elena
Published in Journal of neuromuscular diseases (05.03.2024)
Published in Journal of neuromuscular diseases (05.03.2024)
Get full text
Journal Article
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3
Wolfe, Amy, Stimpson, Georgia, Ramsey, Danielle, Coratti, Giorgia, Dunaway Young, Sally, Mayhew, Anna, Pane, Marika, Rohwer, Annemarie, Muni Lofra, Robert, Duong, Tina, O’Reilly, Emer, Milev, Evelin, Civitello, Matthew, Sansone, Valeria A., D’Amico, Adele, Bertini, Enrico, Messina, Sonia, Bruno, Claudio, Albamonte, Emilio, Mazzone, Elena, Main, Marion, Montes, Jacqueline, Glanzman, Allan M., Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Marini-Bettolo, Chiara, Day, John W., Darras, Basil T., De Vivo, Darryl C., Baranello, Giovanni, Scoto, Mariacristina, Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco
Published in Journal of neuromuscular diseases (30.04.2024)
Published in Journal of neuromuscular diseases (30.04.2024)
Get full text
Journal Article
Patient-Reported Outcome Measures in Neuromuscular Diseases: A Scoping Review
Voet, Nicoline, Pater, Ronne, Garmendia, Joana, Sistiaga, Andone, Labayru, Garazi, Gallais, Benjamin, de Groot, Ingrid, Muslemani, Samar, Gagnon, Cynthia, Graham, Christopher
Published in Journal of Neuromuscular Diseases (30.04.2024)
Published in Journal of Neuromuscular Diseases (30.04.2024)
Get full text
Book Review
Journal Article
Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy
Estévez-Arias, Berta, Matalonga, Leslie, Martorell, Loreto, Codina, Anna, Ortez, Carlos, Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Hoenicka, Janet, Jou, Cristina, Palau, Francesc, Beltran, Sergi, Lochmüller, Hanns, Töpf, Ana, Nascimento, Andrés, Natera-de Benito, Daniel
Published in Journal of neuromuscular diseases (30.04.2024)
Published in Journal of neuromuscular diseases (30.04.2024)
Get full text
Journal Article
Predictors of Loss of Ambulation in Duchenne Muscular Dystrophy: A Systematic Review and Meta-Analysis
Landfeldt, E., Alemán, A., Abner, S., Zhang, R., Werner, C., Tomazos, I., Ferizovic, N., Lochmüller, H., Kirschner, J.
Published in Journal of Neuromuscular Diseases (30.04.2024)
Published in Journal of Neuromuscular Diseases (30.04.2024)
Get full text
Book Review
Journal Article
Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy
Young, Courtney S., Mokhonova, Ekaterina, Quinonez, Marbella, Pyle, April D., Spencer, Melissa J.
Published in Journal of neuromuscular diseases (2017)
Published in Journal of neuromuscular diseases (2017)
Get full text
Journal Article
Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial
Sarasate, Mikel, González, Nuria, Córdoba-Izquierdo, Ana, Prats, Enric, Gonzalez-Moro, Jose Miguel Rodriguez, Martí, Sergi, Lujan, Manel, Calle, Myriam, Antón, Antonio, Povedano, Mónica, Farrero, Eva
Published in Journal of neuromuscular diseases (01.01.2023)
Published in Journal of neuromuscular diseases (01.01.2023)
Get full text
Journal Article
Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine
Desaphy, Jean-François, Altamura, Concetta, Vicart, Savine, Fontaine, Bertrand
Published in Journal of Neuromuscular Diseases (01.01.2021)
Published in Journal of Neuromuscular Diseases (01.01.2021)
Get full text
Book Review
Journal Article
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy
Biggar, W. Douglas, Skalsky, Andrew, McDonald, Craig M.
Published in Journal of Neuromuscular Diseases (01.01.2022)
Published in Journal of Neuromuscular Diseases (01.01.2022)
Get full text
Book Review
Journal Article
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
Kleinle, Stephanie, Scholz, Veronika, Benet-Pagès, Anna, Wohlfrom, Tobias, Gehling, Stefanie, Scharf, Florentine, Rost, Simone, Prott, Eva-Christina, Grinzinger, Susanne, Hotter, Anna, Haug, Verena, Niemeier, Sabine, Wiethoff-Ubrig, Lucia, Hagenacker, Tim, Goldhahn, Klaus, von Moers, Arpad, Walter, Maggie C, Reilich, Peter, Eggermann, Katja, Kraft, Florian, Kurth, Ingo, Erdmann, Hannes, Holinski-Feder, Elke, Neuhann, Teresa, Abicht, Angela
Published in Journal of neuromuscular diseases (08.09.2023)
Published in Journal of neuromuscular diseases (08.09.2023)
Get full text
Journal Article
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort
Pfrimmer, Charlotte, Smitka, Martin, Muschol, Nicole, Husain, Ralf A., Huemer, Martina, Hennermann, Julia B., Schuler, Rahel, Hahn, Andreas
Published in Journal of neuromuscular diseases (02.01.2024)
Published in Journal of neuromuscular diseases (02.01.2024)
Get full text
Journal Article
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures
Sitas, Barbara, Hancevic, Mirea, Bilic, Katarina, Bilic, Hrvoje, Bilic, Ervina
Published in Journal of neuromuscular diseases (02.01.2024)
Published in Journal of neuromuscular diseases (02.01.2024)
Get full text
Journal Article
Findings from the Longitudinal CINRG Becker Natural History Study
Clemens, Paula R., Gordish-Dressman, Heather, Niizawa, Gabriela, Gorni, Ksenija, Guglieri, Michela, Connolly, Anne M., Wicklund, Matthew, Bertorini, Tulio, Mah, Jean, Thangarajh, Mathula, Smith, Edward C., Kuntz, Nancy L., McDonald, Craig M., Henricson, Erik, Upadhyayula, S, Byrne, Barry, Manousakis, Georgios, Harper, Amy, Iannaccone, Susan, Dang, Utkarsh J.
Published in Journal of neuromuscular diseases (02.01.2024)
Published in Journal of neuromuscular diseases (02.01.2024)
Get full text
Journal Article
The Early Care (0–3 Years) In Duchenne Muscular Dystrophy Meeting Report
Armstrong, Niki, Apkon, Susan, Berggren, Kiera N., Braun, Catherine, Ciafaloni, Emma, Connolly, Anne, Kennedy, Annie, Kuntz, Nancy, Mathews, Katherine, McGuire, Michelle, Parad, Richard, Scavina, Mena, Scharf, Rebecca J., Waldrop, Megan
Published in Journal of neuromuscular diseases (05.03.2024)
Published in Journal of neuromuscular diseases (05.03.2024)
Get full text
Journal Article
Conference Proceeding
Burden of Disease of Duchenne Muscular Dystrophy in Denmark – A National Register-Based Study of Individuals with Duchenne Muscular Dystrophy and their Closest Relatives
Rudolfsen, Jan Håkon, Vissing, John, Werlauff, Ulla, Olesen, Charlotte, Illum, Niels, Olsen, Jens, Poulsen, Peter Bo, Strand, Mette, Born, Alfred Peter
Published in Journal of neuromuscular diseases (05.03.2024)
Published in Journal of neuromuscular diseases (05.03.2024)
Get full text
Journal Article