Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy
James, M, Mayhew, A, Eagle, M, Moore, U, Muni Lofra, R, Hilsden, H, Bettinson, K, Harris, E, Straub, V, Bushby, K
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
Get full text
Journal Article
Clinical outcome study for dysferlinopathy: Sensitivity of outcome measures over one-year
Moore, U, James, M, Mayhew, A, Jacobs, M, Feng, J, Harris, E, Fernandez-Torrón, R, Bettinson, K, Hilsden, H, Rufibach, L, Cnaan, A, Straub, V, Bushby, K
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
Get full text
Journal Article
Is cardiac dysfunction a feature of dysferlinopathy? Data from the Clinical Outcome Study of Dysferlinopathy
Tiet, M., Fernandez-Torrón, R., Bourke, J., Bettinson, K., Harris, E., Hilsden, H., Spuler, S., Day, J.W., Jones, K.J., Bharucha-Goebel, D.X., Salort-Campana, E., Pestronk, A., Walter, M.C., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J.R., Bushby, K., Straub, V.
Published in Neuromuscular disorders : NMD (01.04.2018)
Published in Neuromuscular disorders : NMD (01.04.2018)
Get full text
Journal Article
Clinical outcome study for dysferlinopathy: One-year follow-up
Paradas, C, Moore, U, James, M, Mayhew, A, Azzabou, N, Fernandez Torron, R, Reyngoudt, H, Smith, F, Harris, E, Bettinson, K, Hilsden, H, Jacobs, M, Feng, J, Cnaan, A, Rufibach, L, Eagle, M, Blamire, A, Carlier, P, Bushby, K
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
Get full text
Journal Article
Preparation of a disease specific functional measure suitable for trials in dysferlinopathy
Mayhew, A, James, M, Eagle, M, Bladen, C, Muni Lofra, R, Bettinson, K, Hilsden, H, Harris, E, Bushby, K, Rufibach, L
Published in Neuromuscular disorders : NMD (01.10.2015)
Published in Neuromuscular disorders : NMD (01.10.2015)
Get full text
Journal Article
P87 The international clinical outcome study for dysferlinopathy - ten years of natural history data
James, M., Dressman, H Gordish, Rufibach, L., Hilsden, H., Mayhew, A., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
Get full text
Journal Article
P122 Longitudinal Dixon Magnetic Resonance Imaging in dysferlinopathy patients can provide a powerful tool in assessing outcomes of therapeutic interventions
Wilson, I., Reyngoudt, H., Diaz, C Bolano, Araujo, E., Moore, U., Hilsden, H., Manera, J Diaz, Straub, V., Carlier, P., Blamire, A.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
Get full text
Journal Article
P125 Quantitative MRI in upper limb muscles of patients with dysferlinopathy: 6-months and 12-months longitudinal data from the natural history Jain COS 2 project
Wilson, I., Reyngoudt, H., de Almeida Araujo, E Caldas, Baudin, P., Marty, B., Bolano-Diaz, C., Diaz-Manera, J., Rufibach, L., Hilsden, H., Querin, G., Pegoraro, E., Mendell, J., Stojkovic, T., Straub, V., Blamire, A., Carlier, P.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
Get full text
Journal Article
OUTCOME MEASURES
Powers, B., Alcock, L., Iammarino, M., James, M., Miller, N., Hilsden, H., Shannon, K., Lowes, L., Alfano, L.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
OUTCOME MEASURES: P.251 The influence of limb girdle muscle weakness on gait parameters: a pilot study across 8 subtypes
Powers, B., Alcock, L., Iammarino, M., James, M., Miller, N., Hilsden, H., Shannon, K., Lowes, L., Alfano, L.
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
P.163 Quantitative MRI in upper limb muscle of patients with dysferlinopathy: preliminary baseline results of the natural history study Jain COS2
Reyngoudt, H., Smith, F., Wilson, I., de Almeida Araujo, E. Caldas, Marty, B., Baudin, P., Diaz-Manera, J., Rufibach, L., Dressman, H. Gordish, Hilsden, H., Sutherland, H., Querin, G., Stojkovic, T., Straub, V., Carlier, P., Blamire, A.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
Get full text
Journal Article
P281 Quality of life in adults with dysferlinopathy: international clinical outcome study of dysferlinopathy
Hilsden, H., James, M., Dressman, H Gordish, Day, J., Mendell, J., Torron, R Fernandez, Harms, M., Pestronk, A., Vissing, J., Desai, U., Yoshimura, M., Shin, J., Mozaffar, T., Stojkovic, T., Pegoraro, E., Raivas, J Bevilacqu, Olive, M., Paradas, C., Straub, V., Mayhew, A.
Published in Neuromuscular disorders : NMD (01.10.2023)
Published in Neuromuscular disorders : NMD (01.10.2023)
Get full text
Journal Article
P.162 Clinical outcome study of dysferlinopathy: Performance of upper limb entry item to predict forced vital capacity in dysferlinopathy (LGMDR2)
James, M., Dressman, H. Gordish, Hilsden, H., Rufibach, L., Human, A., Duong, T., Maron, E., DeWolf, B., Rose, K., Siener, C., Thiele, S., Práxedes, N. Sánchez-Aguilera, Canal, A., Holsten, S., Sakamoto, C., Pedrosa-Hernández, I., Bello, L., Alfano, L., Lowes, L. Pax, Straub, V., Mayhew, A.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
Get full text
Journal Article
P.171A clinical outcome study for dysferlinopathy: biobanking samples collected through a collaborative international multisite study
Hilsden, H., Moore, U., Cox, D., Day, J., Jones, K., Bharucha-Goebel, D., Pestronk, A., Walter, M., Stojkovic, T., Bravver, E., Mendell, J., Rufibach, L., Paradas, C., Diaz-Manera, J., Pegoraro, E., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
Get full text
Journal Article
MUSCLE IMAGING – MRI: P.159 Correlations between quantitative NMRI biomarkers for disease progression and disease activity in muscle of patients with dysferlinopathy
Reyngoudt, H., Smith, F., de Almeida Araujo, E. Caldas, Wilson, I., Fernandez-Torron, R., James, M., Moore, U., Marty, B., Rufibach, L., Hilsden, H., Sutherland, H., Hogrel, J., Stojkovic, T., Bushby, K., Straub, V., Carlier, P., Blamire, A., COS consortium, Jain Foundation
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
MUSCLE IMAGING – MRI
Reyngoudt, H., Smith, F., de Almeida Araujo, E. Caldas, Wilson, I., Fernandez-Torron, R., James, M., Moore, U., Marty, B., Rufibach, L., Hilsden, H., Sutherland, H., Hogrel, J., Stojkovic, T., Bushby, K., Straub, V., Carlier, P., Blamire, A., COS consortium, Jain Foundation
Published in Neuromuscular disorders : NMD (01.10.2020)
Published in Neuromuscular disorders : NMD (01.10.2020)
Get full text
Journal Article
P.183Functional progression in dysferlinopathy: results of a 3-year natural history study
Jacobs, M., James, M., Mayhew, A., Hilsden, H., Sutherland, H., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J., Rufibach, L., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
Get full text
Journal Article
P.177Measuring what matters in dysferlinopathy – linking functional ability to patient reported outcome measures
Mayhew, A., James, M., Hilsden, H., Sutherland, H., Jacobs, M., Spuler, S., Day, J., Jones, K., Bharucha-Goebel, D., Salort-Campana, E., Pestronk, A., Walter, M., Paradas, C., Stojkovic, T., Mori-Yoshimura, M., Bravver, E., Diaz Manera, J., Pegoraro, E., Mendell, J., Rufibach, L., Straub, V.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
Get full text
Journal Article
D20 - Development of a robust disease specific functional measure suitable for trials in ambulant and non-ambulant individuals with dysferlinopathy
James, M., Mayhew, A., Eagle, M., Moore, U., Muni Lofra, R., Hilsden, H., Bettinson, K., Harris, E., Straub, V., Bushby, K.
Published in Neuromuscular disorders : NMD (01.03.2017)
Published in Neuromuscular disorders : NMD (01.03.2017)
Get full text
Journal Article