Results 71 to 80 of about 658 (148)

PMS57 Understanding the Impact of XLMTM on Parents and Caregivers in the US: An Analysis of Survey Results [PDF]

Value in Health, 2020
B. Miller, W. Yao, R. Dean, I.S. Jensen, P.L. Cyr, T. Slocomb   +5 more
openaire   +1 more source

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy

, 2017
International audienceX-linked myotubular myopathy (XLMTM), a devastating pediatric disease caused by the absence of the protein myotubularin, results from mutations in the MTM1 gene.
Kelly, Valerie, Ana Buj‐Bello, Grange, Robert, Beggs, Alan,, Buj-Bello, Ana, Mack, David, Meng, Hui, Hui Meng, Robert W. Grange, Poulard, Karine, Marsh, Anthony, David Mack, Karine Poulard, Childers, Martin,, Elverman, Matthew, Alan H. Beggs, Jessica M. Snyder, Anthony P. Marsh, Goddard, Melissa, Valerie E. Kelly, Snyder, Jessica, Melissa A. Goddard, Matthew Elverman, Beggs, Alan, H., Childers, Martin, K., Lawlor, Michael, Michael W. Lawlor, Martin K. Childers   +27 more
core   +1 more source

AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy

, 2020
International audienceMultiple clinical trials employing recombinant adeno-associated viral (rAAV) vectors have been initiated for neuromuscular disorders, including Duchenne and limb-girdle muscular dystrophies, spinal muscular atrophy, and recently X ...
Childers, M. K., Renaud-Gabardos, E., Dupont, J. B., Poulard, K., Latournerie, V., Lawlor, M. W., Guo, J., Mack, D. L., Gray, J. T., Buj-Bello, A., Grange, R. W.   +10 more
core   +1 more source

PRO12 HEALTHCARE RESOURCE USE AND EXPENDITURES IN PATIENTS WITH X-LINKED MYOTUBULAR MYOPATHY (XLMTM) [PDF]

Value in Health, 2020
N. Sacks, B.E. Healey, P.L. Cyr, T. Slocomb, E.S. James, A.H. Beggs, R.J. Graham   +6 more
openaire   +1 more source

Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy

, 2020
X-linked myotubular myopathy (XLMTM) is a severe congenital myopathy characterised by generalised weakness and respiratory insufficiency. XLMTM is associated with pathogenic variants in MTM1; a gene encoding the lipid phosphatase myotubularin.
Waddell, LB, Ryan, MM, MacArthur, DG, Joshi, H, Bryen, SJ, Evesson, FJ, Cummings, BB, Oates, EC, Kornberg, AJ, Cooper, ST, Lu, JK, McLean, CA, Andrew J. Kornberg, Catriona A. McLean, Sandra T. Cooper, Emily C. Oates, Jessica K. Lu, Leigh B. Waddell, Monique M. Ryan, Frances J. Evesson, Beryl B. Cummings, Samantha J. Bryen, Daniel G. MacArthur, Himanshu Joshi   +23 more
core   +1 more source

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X‐linked myotubular myopathy

, 2014
International audienceINTRODUCTION: We tested the feasibility of using neuromuscular ultrasound for non-invasive real-time assessment of diaphragmatic structure and function in a canine model of X-linked myotubular myopathy (XLMTM).
Cartwright, M. S., Childers, M. K., Erin Mitchell, Alan H. Beggs, Beggs, Alan, Sarwal, A., Walker, F. O., Walker, Francis, Buj-Bello, Anna, Francis O. Walker, Anna Buj‐Bello, Beggs, A. H., Cartwright, Michael, Michael S. Cartwright, Sarwal, Aarti, Childers, Martin, Buj-Bello, A., Mitchell, Erin, Aarti Sarwal, Mitchell, E., Martin K. Childers   +20 more
core   +1 more source

Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathy [PDF]

, 2014
Loss-of-function mutations in the myotubularin gene (MTM1) cause X-linked myotubular myopathy (XLMTM), a fatal, congenital pediatric disease that affects the entire skeletal musculature.
Daniele, N., Grange, Robert, Williams, J. Koudy, Rivière, Christel, Beggs, Alan H., Beggs, Alan,, Lawlor, Michael W., Beggs, Alan, Barber, Jane, Williams, J Koudy, Childers, Martin K., Furth, Mark E., Mack, David, Mack, David L., Doering, Jonathan, Furth, Mark, Joubert, Romain, Poulard, Karine, Mitchell, Erin, Masurier, Carole, MAVILIO, Fulvio, Rider, Branden E., Guan, Xuan, Moal, Christel, Jamet, Thibaud, Van Wittenberghe, Laetitia, Moal, Christelle, Danièle, Nathalie, Goddard, Melissa, Buj Bello, Anna, Buj-Bello, Anna, Moullier, Philippe, Rider, Branden, Beggs, Alan, H., Doering, Jonathan A., Childers, Martin, Hammer, Caroline, Grange, Robert W., Vignaud, Alban, Lawlor, Michael, Martin, Samia, Soker, Thomas, Lockard, Mandy   +42 more
core   +1 more source

Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice

, 2018
International audienceX-linked myotubular myopathy (XLMTM) is a severe congenital disorder in male infants that leads to generalized skeletal muscle weakness and is frequently associated with fatal respiratory failure. XLMTM is caused by loss-of-function
Daniele, N., Vignaud, A., Martina Marinello, Jamet, T., Samia Martin, Martin, S., Lawlor, M. W., Ana Buj-Bello, Marinello, M., Julien, L., Christelle Moal, Laura Julien, Michael W Lawlor, Moal, C., Nathalie Danièle, Buj-Bello, A., Alban Vignaud, Thibaud Jamet   +17 more
core   +1 more source

PRO77 HEALTH RESOURCE USE IN PATIENTS WITH X-LINKED MYOTUBULAR MYOPATHY (XLMTM): DATA FROM THE RECENSUS STUDY [PDF]

Value in Health, 2020
B. Miller, I. Jensen, R. Dean, T. Slocomb, E.S. James, A.H. Beggs   +5 more
openaire   +1 more source

X-Linked myotubular myopathy (XLMTM): phenotypic variability

Neuromuscular Disorders, 2017
Ortez, C, Natera, D, Colomer, J, Itzep, D, Alarcón, M, Frongia, A, Jou, C, Codina, A, Jimenez-Mallebrera, C, Martorell, L, Biancalana, V, González, L, Gallano, P, Nascimento, A   +13 more
openaire   +2 more sources