INV04 Accounting for phenotypic variability in clinical outcomes von Alfano, L.

Volltext

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design von Truxal, K.V., Fu, H., McCarty, D.M., McNally, K.A., Kunkler, K.L., Zumberge, N.A., Martin, L., Aylward, S.C., Alfano, L.N., Berry, K.M., Lowes, L.P., Corridore, M., McKee, C., McBride, K.L., Flanigan, K.M.

Volltext

NONO regulates the intra-S-phase checkpoint in response to UV radiation von Alfano, L, Costa, C, Caporaso, A, Altieri, A, Indovina, P, Macaluso, M, Giordano, A, Pentimalli, F

Volltext

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy von Mendell, Jerry R., Al-Zaidy, Samiah, Shell, Richard, Arnold, W. Dave, Rodino-Klapac, Louise R., Prior, Thomas W., Lowes, Linda, Alfano, Lindsay, Berry, Katherine, Church, Kathleen, Kissel, John T., Nagendran, Sukumar, L’Italien, James, Sproule, Douglas M., Wells, Courtney, Cardenas, Jessica A., Heitzer, Marjet D., Kaspar, Allan, Corcoran, Sarah, Braun, Lyndsey, Likhite, Shibi, Miranda, Carlos, Meyer, Kathrin, Foust, K.D., Burghes, Arthur H.M., Kaspar, Brian K.

Volltext

Cross-sectional data on the 100 meter timed test in boys with Duchenne muscular dystrophy compared to age-matched controls von Berry, K, Alfano, L, Miller, N, Lowes, L

Volltext

Validation of ACTIVE with the PROMIS patient-reported measure of upper extremity function in males with Duchenne muscular dystrophy von Miller, N, Alfano, L, Berry, K, Lowes, L

Volltext

The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositis von Alfano, L.N, Lowes, L.P, Dvorchik, I, Yin, H, Maus, E.G, Flanigan, K.M, Mendell, J.R

Volltext

Establishing normative data for the 60 and 100-m run test in healthy male controls von Lowes, L, Alfano, L, Berry, K, Leggett, M

Volltext

Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy von Conrado, Daniela J., Larkindale, Jane, Berg, Alexander, Hill, Micki, Burton, Jackson, Abrams, Keith R., Abresch, Richard T., Bronson, Abby, Chapman, Douglass, Crowther, Michael, Duong, Tina, Gordish-Dressman, Heather, Harnisch, Lutz, Henricson, Erik, Kim, Sarah, McDonald, Craig M., Schmidt, Stephan, Vong, Camille, Wang, Xiaoxing, Wong, Brenda L., Yong, Florence, Romero, Klaus

Volltext

Evaluating the effect of a monetary incentive on performance of the 100-meter timed test in Duchenne muscular dystrophy von Alfano, L, Berry, K, Miller, N, Cripe, L, Flanigan, K, Mendell, J, Lowes, L

Volltext

Validity of ACTIVE for use across ambulatory abilities in Duchenne muscular dystrophy von Lowes, L, Alfano, L, Berry, K, Flanigan, K, Mendell, J

Volltext

Pilot data evaluating the utility of ACTIVE-mini as a biomarker in spinal muscular atrophy type 1 von Alfano, L, Soran, B, Berry, K, Miller, N, Steele, K, Lowes, L

Volltext

S11 Long-term follow-up of the phase 1 START trial of onasemnogene abeparvovec gene therapy in spinal muscular atrophy type 1 von Mendell, JR, Shell, R, Lehman, KJ, McColly, M, Lowes, LP, Alfano, LN, Miller, NF, Iammarino, MA, Church, K, Kausar, I, Reyna, SP, Meriggioli, M, Kleyn, A, Al-Zaidy, S

Volltext

Comparison of ACTIVE-mini to the Vicon motion camera system in measuring infant movements von Lowes, L, McNally, M, Alfano, L, Berry, K, Mendell, J, Heathcock, J

Volltext

A Novel Measure To Assess Self-Reported Physical Functioning In Patients With Sporadic Inclusion Body Myositis (Sibm) von DeMuro, C, Lewis, S, Pax Lowes, L, Alfano, L, Tseng, B, Gnanasakthy, A

Volltext

Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO) for Duchenne muscular dystrophy (DMD): Longitudinal comparison to external controls on six-minute walk test (6MWT) and lo... von Mendell, J, Goemans, N, Rodino-Klapac, L, Sahenk, Z, Lowes, L, Alfano, L, Berry, K, Peterson, E, Lewis, S, Shontz, K, Shao, J, Duda, P, Mercuri, E

Volltext

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy von Mendell, Jerry R, Al-Zaidy, Samiah, Shell, Richard, Arnold, W. Dave, Rodino-Klapac, Louise R, Prior, Thomas W, Lowes, Linda, Alfano, Lindsay, Berry, Katherine, Church, Kathleen, Kissel, John T, Nagendran, Sukumar, L’Italien, James, Sproule, Douglas M, Wells, Courtney, Cardenas, Jessica A, Heitzer, Marjet D, Kaspar, Allan, Corcoran, Sarah, Braun, Lyndsey, Likhite, Shibi, Miranda, Carlos, Meyer, Kathrin, Foust, K.D, Burghes, Arthur H.M, Kaspar, Brian K

Volltext

G.P.112 von Mendell, J.R, Lowes, L.P, Alfano, L, Saoud, J, Duda, P, Kaye, E

Volltext

Eteplirsen, a Phosphorodiamidate morpholino oligomer (PMO) for the treatment of Duchenne muscular dystrophy (DMD): Clinical update von Kaye, E, Mendell, J, Rodino-Klapac, L, Sahenk, Z, Lowes, L, Alfano, L, Berry, K, Gomez Ramirez, A, Lewis, S, Flanigan, K, Cripe, L, Al-Zaidy, S, Duda, P, Sazani, P, Saoud, J

Volltext

O13 Promoting an active lifestyle; use of an in-home body weight support system to increase exercise dosage for children with neuromuscular disease von Iammarino, M., Reash, N., Wendland, M., Alfano, L., Lowes, L.

Volltext