Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Moore, Ursula R, Jacobs, Marni, Fernandez-Torron, Roberto, Jang, Jiji, James, Meredith K, Mayhew, Anna, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Cnaan, Avital, Carlier, Pierre G, Blamire, Andrew, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Diaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.11.2018)
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Medical management of muscle weakness in Duchenne muscular dystrophy
Rivera, Sarah R, Jhamb, Sumit K, Abdel-Hamid, Hoda Z, Acsadi, Gyula, Brandsema, John, Ciafaloni, Emma, Darras, Basil T, Iannaccone, Susan T, Konersman, Chamindra G, Kuntz, Nancy L, McDonald, Craig M, Parsons, Julie A, Tesi Rocha, Carolina, Zaidman, Craig M, Butterfield, Russell J, Connolly, Anne M, Mathews, Katherine D
Published in PloS one (19.10.2020)
Published in PloS one (19.10.2020)
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Journal Article
Knee Strength and Ankle Range of Motion Impacts on Timed Function Tests in Duchenne Muscular Dystrophy: In the Era of Glucocorticoids
Duong, Tina, Canbek, Jennifer, Fernandez-Fernandez, Alicia, Henricson, Erik, Birkmeier, Marisa, Siener, Catherine, Tesi Rocha, Carolina, McDonald, Craig, Gordish-Dressman, Heather
Published in Journal of neuromuscular diseases (01.01.2022)
Published in Journal of neuromuscular diseases (01.01.2022)
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Journal Article
CINRG pilot trial of coenzyme Q10 in steroid-treated duchenne muscular dystrophy
Spurney, Christopher F., Rocha, Carolina Tesi, Henricson, Erik, Florence, Julaine, Mayhew, Jill, Gorni, Ksenija, Pasquali, Livia, Pestronk, Alan, Martin, Gerard R., Hu, Fengming, Nie, Lei, Connolly, Anne M., Escolar, Diana M.
Published in Muscle & nerve (01.08.2011)
Published in Muscle & nerve (01.08.2011)
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Assessing the Assisted Six-Minute Cycling Test as a Measure of Endurance in Non-Ambulatory Patients with Spinal Muscular Atrophy (SMA)
Tang, Whitney J, Gu, Bo, Montalvo, Samuel, Dunaway Young, Sally, Parker, Dana M, de Monts, Constance, Ataide, Paxton, Ni Ghiollagain, Noirin, Wheeler, Matthew T, Tesi Rocha, Carolina, Christle, Jeffrey W, He, Zihuai, Day, John W, Duong, Tina
Published in Journal of clinical medicine (01.12.2023)
Published in Journal of clinical medicine (01.12.2023)
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Journal Article
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Diaz-Manera, Jordi, Fernandez-Torron, Roberto, LLauger, Jaume, James, Meredith K, Mayhew, Anna, Smith, Fiona E, Moore, Ursula R, Blamire, Andrew M, Carlier, Pierre G, Rufibach, Laura, Mittal, Plavi, Eagle, Michelle, Jacobs, Marni, Hodgson, Tim, Wallace, Dorothy, Ward, Louise, Smith, Mark, Stramare, Roberto, Rampado, Alessandro, Sato, Noriko, Tamaru, Takeshi, Harwick, Bruce, Rico Gala, Susana, Turk, Suna, Coppenrath, Eva M, Foster, Glenn, Bendahan, David, Le Fur, Yann, Fricke, Stanley T, Otero, Hansel, Foster, Sheryl L, Peduto, Anthony, Sawyer, Anne Marie, Hilsden, Heather, Lochmuller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W, Jones, Kristi J, Bharucha-Goebel, Diana X, Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C, Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shin’ichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R, Bushby, Kate, Straub, Volker
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2018)
Published in Journal of neurology, neurosurgery and psychiatry (01.10.2018)
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Advances in the Therapy of Spinal Muscular Atrophy
Klotz, Jenna, Tesi Rocha, Carolina, Dunaway Young, Sally, Duong, Tina, Buu, MyMy, Sampson, Jacinda, Day, John W.
Published in The Journal of pediatrics (01.09.2021)
Published in The Journal of pediatrics (01.09.2021)
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Journal Article
Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, Day, John W.
Published in Neurotherapeutics (01.04.2021)
Published in Neurotherapeutics (01.04.2021)
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Journal Article
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
Spitali, Pietro, Zaharieva, Irina, Bohringer, Stefan, Hiller, Monika, Chaouch, Amina, Roos, Andreas, Scotton, Chiara, Claustres, Mireille, Bello, Luca, McDonald, Craig M, Hoffman, Eric P, Koeks, Zaida, Eka Suchiman, H, Cirak, Sebahattin, Scoto, Mariacristina, Reza, Mojgan, 't Hoen, Peter A C, Niks, Erik H, Tuffery-Giraud, Sylvie, Lochmüller, Hanns, Ferlini, Alessandra, Muntoni, Francesco, Aartsma-Rus, Annemieke
Published in European journal of human genetics : EJHG (01.06.2020)
Published in European journal of human genetics : EJHG (01.06.2020)
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Journal Article
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Hogarth, Marshall W., Houweling, Peter J., Thomas, Kristen C., Gordish-Dressman, Heather, Bello, Luca, Pegoraro, Elena, Hoffman, Eric P., Head, Stewart I., North, Kathryn N.
Published in Nature communications (31.01.2017)
Published in Nature communications (31.01.2017)
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Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Xue, Shifeng, Maluenda, Jérôme, Marguet, Florent, Shboul, Mohammad, Quevarec, Loïc, Bonnard, Carine, Ng, Alvin Yu Jin, Tohari, Sumanty, Tan, Thong Teck, Kong, Mung Kei, Monaghan, Kristin G., Cho, Megan T., Siskind, Carly E., Sampson, Jacinda B., Rocha, Carolina Tesi, Alkazaleh, Fawaz, Gonzales, Marie, Rigonnot, Luc, Whalen, Sandra, Gut, Marta, Gut, Ivo, Bucourt, Martine, Venkatesh, Byrappa, Laquerrière, Annie, Reversade, Bruno, Melki, Judith
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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Correction to: Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study
Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, Day, John W.
Published in Neurotherapeutics (01.07.2021)
Published in Neurotherapeutics (01.07.2021)
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Journal Article
Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance
Punetha, Jaya, MS, Monges, Soledad, MD, Franchi, Maria Emilia, MD, Hoffman, Eric P., PhD, Cirak, Sebahattin, MD, Tesi-Rocha, Carolina, MD
Published in Pediatric neurology (01.02.2015)
Published in Pediatric neurology (01.02.2015)
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Journal Article
Access to novel therapies for Duchenne muscular dystrophy—Insights from expert treating physicians
Veerapandiyan, Aravindhan, Connolly, Anne M., Mathews, Katherine D., Nelson, Stanley, McDonald, Craig, Finkel, Richard S., Vedanarayanan, Vettaikorumakankav, Tian, Cuixia, Apkon, Susan, Parsons, Julie A., Soslow, Jonathan H., Burnette, William Bryan, Batley, Kaitlin Y., Iannaccone, Susan T., Rocha, Carolina Tesi, Flanigan, Kevin M., Bharucha‐Goebel, Diana, Wright, Sarah, Monduy, Migvis, Treidler, Simona, Kumar, Ashutosh, Kuntz, Nancy L., Rao, Vamshi K., Schrader, Rachel, Bernes, Saunder M., Stefans, Vikki Ann, Krueger, Jena M., Felker, Marcia V., Hamid, Omer Abdul, Lakhotia, Arpita, Matesanz, Susan, Ghosh, Partha S., Katz, Natalie, Abdel‐Hamid, Hoda, Laverty, Chamindra G., Lee, Bo Hoon, Harper, Amy, Ramos‐Platt, Leigh, Castro, Diana, Butterfield, Russell J., Proud, Crystal M., Zaidman, Craig M., Ciafaloni, Emma
Published in Annals of the Child Neurology Society (01.09.2024)
Published in Annals of the Child Neurology Society (01.09.2024)
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Journal Article
CINRG randomized controlled trial of creatine and glutamine in Duchenne muscular dystrophy
Escolar, Diana M., Buyse, Gunnar, Henricson, Erik, Leshner, Robert, Florence, Julaine, Mayhew, Jill, Tesi-Rocha, Carolina, Gorni, Ksenija, Pasquali, Livia, Patel, Kantilal M., McCarter, Robert, Huang, Jennifer, Mayhew, Thomas, Bertorini, Tulio, Carlo, Jose, Connolly, Anne M., Clemens, Paula R., Goemans, Nathalie, Iannaccone, Susan T., Igarashi, Masanori, Nevo, Yoram, Pestronk, Alan, Subramony, S. H., Vedanarayanan, V. V., Wessel, Henry
Published in Annals of neurology (01.07.2005)
Published in Annals of neurology (01.07.2005)
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Journal Article
Liquid formulation of pentoxifylline is a poorly tolerated treatment for duchenne dystrophy
Zimmerman, Angela, Clemens, Paula R., Tesi-Rocha, Carolina, Connolly, Anne, Iannaccone, Susan T., Kuntz, Nancy, Arrieta, Adrienne, Hache, Lauren, Henricson, Erik, Hu, Fengming, Mayhew, Jill, Escolar, Diana M.
Published in Muscle & nerve (01.08.2011)
Published in Muscle & nerve (01.08.2011)
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