Dec 10, 2019 | Articles dans les revues scientifiques, Publications
<Back to 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,...
Dec 10, 2019 | Articles dans les revues scientifiques, Publications
<Back to 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,...
Dec 10, 2019 | Articles dans les revues scientifiques, Publications
<Back to 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 C,...
Dec 10, 2019 | Articles dans les revues scientifiques, Publications
<Back to 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,...
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