Déc 10, 2019 | Articles dans les revues scientifiques, Publications
< Retour aux Publications Two-minute versus 6-minute walk distances during 6-minute walk test in neuromuscular disease: Is the 2-minute walk test an effective alternative to a 6-minute walk test? Witherspoon JW, Vasavada R, Logaraj RH, Waite M, Collins J, Shieh C,...
Déc 10, 2019 | Articles dans les revues scientifiques, Publications
< Retour aux Publications Correlation of phenotype with genotype and protein structure in RYR1-related disorders Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, Chrismer IC, Zhang X, Cosgrove MM, Kuo A, Vasavada R, Jain MS, Waite M, Rajapakse D,...
Déc 10, 2019 | Articles dans les revues scientifiques, Publications
< Retour aux Publications Nusinersen in spinal muscular atrophy type 1 patients older than 7 months: A cohort study Aragon-Gawinska K, Seferian AM, Daron A, Gargaun E, Vuillerot C, Cances C, Ropars J, Chouchane M, Cuppen I, Hughes I, Illingworth M, Marini-Bettolo...
Déc 10, 2019 | Articles dans les revues scientifiques, Publications
< Retour aux Publications Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F,...
Déc 9, 2019 | Articles dans les revues scientifiques, Publications
< Retour aux Publications Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial) Stam M, Wadman RI, Wijngaarde CA, Bartels B,...
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