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Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials
Maguire, Albert M, Russell, Stephen, Wellman, Jennifer A, Chung, Daniel C, Yu, Zi-Fan, Tillman, Amy, Wittes, Janet, Pappas, Julie, Elci, Okan, Marshall, Kathleen A, McCague, Sarah, Reichert, Hannah, Davis, Maria, Simonelli, Francesca, Leroy, Bart P, Wright, J Fraser, High, Katherine A, Bennett, Jean
Published in Ophthalmology (Rochester, Minn.) (01.09.2019)
Published in Ophthalmology (Rochester, Minn.) (01.09.2019)
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A Phase I/II trial of MYO-029 in Adult Subjects with Muscular Dystrophy
WAGNER, Kathryn R, FLECKENSTEIN, James L, EAGLE, Michelle, FLORENCE, Julaine M, KING, Wendy M, PANDYA, Shree, STRAUB, Volker, JUNEAU, Paul, MEYERS, Kathleen, CSIMMA, Cristina, ARAUJO, Tracey, ALLEN, Robert, AMATO, Anthony A, PARSONS, Stephanie A, WOZNEY, John M, LAVALLIE, Edward R, MENDELL, Jerry R, BAROHN, Richard J, BUSHBY, Katharine, ESCOLAR, Diana M, FLANIGAN, Kevin M, PESTRONK, Alan, TAWIL, Rabi, WOLFE, Gil I
Published in Annals of neurology (01.05.2008)
Published in Annals of neurology (01.05.2008)
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Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case–control study
Spaziani, M., Semeraro, A., Bucci, E., Rossi, F., Garibaldi, M., Papassifachis, M. A., Pozza, C., Anzuini, A., Lenzi, A., Antonini, G., Radicioni, A. F.
Published in Journal of endocrinological investigation (01.05.2020)
Published in Journal of endocrinological investigation (01.05.2020)
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T 1 -Mapping and extracellular volume estimates in pediatric subjects with Duchenne muscular dystrophy and healthy controls at 3T
Maforo, Nyasha G, Magrath, Patrick, Moulin, Kévin, Shao, Jiaxin, Kim, Grace Hyun, Prosper, Ashley, Renella, Pierangelo, Wu, Holden H, Halnon, Nancy, Ennis, Daniel B
Published in Journal of cardiovascular magnetic resonance (10.12.2020)
Published in Journal of cardiovascular magnetic resonance (10.12.2020)
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A Novel NF‐κB Inhibitor, Edasalonexent (CAT‐1004), in Development as a Disease‐Modifying Treatment for Patients With Duchenne Muscular Dystrophy: Phase 1 Safety, Pharmacokinetics, and Pharmacodynamics in Adult Subjects
Donovan, Joanne M., Zimmer, Michael, Offman, Elliot, Grant, Toni, Jirousek, Michael
Published in Journal of clinical pharmacology (01.05.2017)
Published in Journal of clinical pharmacology (01.05.2017)
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Multi‐Parametric Quantitative MRI in the Early Differential Diagnosis of Ambulatory Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
Peng, Fei, Xu, Huayan, Xu, Ting, Xu, Ke, Cai, Xiaotang, Li, Jiaoyang, Zhao, Heng, Liu, Wenhong, Guo, Yingkun, Liu, Limin
Published in Journal of magnetic resonance imaging (01.08.2025)
Published in Journal of magnetic resonance imaging (01.08.2025)
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Limb-girdle muscular dystrophy type 2D gene therapy restores α-sarcoglycan and associated proteins
Mendell, Jerry R., Rodino-Klapac, Louise R., Rosales-Quintero, Xiomara, Kota, Janaiah, Coley, Brian D., Galloway, Gloria, Craenen, Josepha M., Lewis, Sarah, Malik, Vinod, Shilling, Christopher, Byrne, Barry J., Conlon, Thomas, Campbell, Katherine J., Bremer, William G., Viollet, Laurence, Walker, Christopher M., Sahenk, Zarife, Clark, K. Reed
Published in Annals of neurology (01.09.2009)
Published in Annals of neurology (01.09.2009)
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MSH3 modifies somatic instability and disease severity in Huntington’s and myotonic dystrophy type 1
Flower, Michael, Lomeikaite, Vilija, Ciosi, Marc, Cumming, Sarah, Morales, Fernando, Lo, Kitty, Hensman Moss, Davina, Jones, Lesley, Holmans, Peter, Monckton, Darren G, Tabrizi, Sarah J, Kraus, Peter, Hoffman, Rainer, Tobin, Alan, Borowsky, Beth, Keenan, S, Whitlock, Kathryn B, Queller, Sarah, Campbell, Colin, Wang, Chiachi, Langbehn, Doug, Axelson, Eric, Johnson, Hans, Acharya, Tanka, Cash, Dave M, Frost, Chris, Jones, Rebecca, Jurgens, Caroline, ‘t Hart, Ellen P, van der Grond, Jeroen, Witjes- Ane, Marie-Noelle N, Roos, Raymund A C, Dumas, Eve M, van den Bogaard, Simon J A, Stopford, Cheryl, Craufurd, David, Callaghan, Jenny, Arran, Natalie, Rosas, Diana D, Lee, S, Monaco, W, O’Regan, Alison, Milchman, Cassie, Frajman, E, Labuschagne, Izelle, Stout, Julie, Campbell, Melissa, Andrews, Sophie C, Bechtel, Natalie, Reilmann, Ralf, Bohlen, Stefan, Kennard, Chris, Berna, Claire, Hicks, Stephen, Durr, Alexandra, Pourchot, C, Bardinet, Eric, Nigaud, Kevin, Valabre, Romain, gue, `, Lehericy, Stephane, Marelli, Cecilia, Jauffret, Celine, Justo, Damian, Leavitt, Blair, Decolongon, Joji, Sturrock, Aaron, Coleman, Alison, Santos, Rachelle Dar, Patel, A, Gibbard, Claire, Whitehead, Daisy, Wild, Ed, Owen, Gail, Crawford, Helen, Malone, Ian, Lahiri, Nayana, Fox, Nick C, Hobbs, Nicola Z, Scahill, Rachael I, Ordidge, Roger, Pepple, Tracey, Read, Joy, Say, Miranda J, Landwehrmeyer, Bernhard, Daidj, Ferroudja, Bassez, Guillaume, Lignier, Baptiste, Couppey, Florence, Delmas, Stéphanie, Deux, Jean-François, Hankiewicz, Karolina, Dogan, Celine, Minier, Lisa, Chevalier, Pascale, Hamadouche, Amira, Catt, Michael, van Hees, Vincent, Catt, Sharon, Schwalber, Ameli
Published in Brain (London, England : 1878) (01.07.2019)
Published in Brain (London, England : 1878) (01.07.2019)
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Ambulatory capacity and disease progression as measured by the 6-minute-walk-distance in Duchenne muscular dystrophy subjects on daily corticosteroids
Goemans, Nathalie, van den Hauwe, Marleen, Wilson, Rosamund, van Impe, Annelies, Klingels, Katrijn, Buyse, Gunnar
Published in Neuromuscular disorders : NMD (01.08.2013)
Published in Neuromuscular disorders : NMD (01.08.2013)
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Evidence-based path to newborn screening for duchenne muscular dystrophy
Mendell, Jerry R., Shilling, Chris, Leslie, Nancy D., Flanigan, Kevin M., al-Dahhak, Roula, Gastier-Foster, Julie, Kneile, Kelley, Dunn, Diane M., Duval, Brett, Aoyagi, Alexander, Hamil, Cindy, Mahmoud, Maha, Roush, Kandice, Bird, Lauren, Rankin, Chelsea, Lilly, Heather, Street, Natalie, Chandrasekar, Ram, Weiss, Robert B.
Published in Annals of neurology (01.03.2012)
Published in Annals of neurology (01.03.2012)
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Janecke, Andreas R., Liu, Xiaoqin, Adam, Rüdiger, Punuru, Sumanth, Viestenz, Arne, Strauß, Valeria, Laass, Martin, Sanchez, Elizabeth, Adachi, Roberto, Schatz, Martha P., Saboo, Ujwala S., Mittal, Naveen, Rohrschneider, Klaus, Escher, Johanna, Ganesh, Anuradha, Al Zuhaibi, Sana, Al Murshedi, Fathiya, AlSaleem, Badr, Alfadhel, Majid, Al Sinani, Siham, Alkuraya, Fowzan S., Huber, Lukas A., Müller, Thomas, Heidelberger, Ruth, Janz, Roger
Published in Human genetics (01.08.2021)
Published in Human genetics (01.08.2021)
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Effect of free‐breathing on left ventricular rotational mechanics in healthy subjects and patients with duchenne muscular dystrophy
Reyhan, Meral L., Wang, Zhe, Kim, Hyun J., Halnon, Nancy J., Finn, J. Paul, Ennis, Daniel B.
Published in Magnetic resonance in medicine (01.02.2017)
Published in Magnetic resonance in medicine (01.02.2017)
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Retinal Structure in RPE65 -Associated Retinal Dystrophy
Kumaran, Neruban, Georgiou, Michalis, Bainbridge, James W. B., Bertelsen, Mette, Larsen, Michael, Blanco-Kelly, Fiona, Ayuso, Carmen, Tran, Hoai Viet, Munier, Francis L., Kalitzeos, Angelos, Michaelides, Michel
Published in Investigative ophthalmology & visual science (29.04.2020)
Published in Investigative ophthalmology & visual science (29.04.2020)
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Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study
Ricotti, V., Selby, V., Ridout, D., Domingos, J., Decostre, V., Mayhew, A., Eagle, M., Butler, J., Guglieri, M., Van der Holst, M., Jansen, M., Verschuuren, J.J.G.M., de Groot, I.J.M., Niks, E.H., Servais, L., Straub, V., Voit, T., Hogrel, J.Y., Muntoni, F.
Published in Neuromuscular disorders : NMD (01.04.2019)
Published in Neuromuscular disorders : NMD (01.04.2019)
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Thoracoabdominal asynchrony and paradoxical motion in Duchenne muscular dystrophy and healthy subjects during cough: A case control study
Marques, Layana, Fregonezi, Guilherme Augusto de Freitas, Marcelino, Ana Aline, Dourado‐Júnior, Mario Emílio Teixeira, Sarmento, Antonio, Pennati, Francesca, Aliverti, Andrea, Resqueti, Vanessa Regiane
Published in Pediatric pulmonology (01.07.2021)
Published in Pediatric pulmonology (01.07.2021)
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Fuchs' endothelial corneal dystrophy: subjective grading versus objective grading based on the central-to-peripheral thickness ratio
Repp, Daniel J, Hodge, David O, Baratz, Keith H, McLaren, Jay W, Patel, Sanjay V
Published in Ophthalmology (Rochester, Minn.) (01.04.2013)
Published in Ophthalmology (Rochester, Minn.) (01.04.2013)
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Clinical characteristics of metabolic associated fatty liver disease (MAFLD) in subjects with myotonic dystrophy type 1 (DM1)
Miele, Luca, Perna, Alessia, Dajko, Marianxhela, Zocco, Maria A., De Magistris, Antonio, Nicoletti, Tommaso F., Biolato, Marco, Marrone, Giuseppe, Liguori, Antonio, Maccora, Daria, Valenza, Venanzio, Rossi, Salvatore, Riso, Vittorio, Di Natale, Daniele, Gasbarrini, Antonio, Grieco, Antonio, Silvestri, Gabriella
Published in Digestive and liver disease (01.11.2021)
Published in Digestive and liver disease (01.11.2021)
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Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Jensen, Synnøve M., Müller, Kai Ivar, Mellgren, Svein Ivar, Bindoff, Laurence A., Rasmussen, Magnhild, Ørstavik, Kristin, Jonsrud, Christoffer, Tveten, Kristian, Nilssen, Øivind, Van Ghelue, Marijke, Arntzen, Kjell Arne
Published in Neuromuscular disorders : NMD (01.02.2023)
Published in Neuromuscular disorders : NMD (01.02.2023)
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