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Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Among authors: scarlato m. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.
As expected, no effects were seen on clinical outcome parameters in this short-term trial. In this study, we define the mutational and phenotypic spectrum of SPG5, examine the correlation of disease severity and progression with oxysterol concentrations, and demonstrate in …
As expected, no effects were seen on clinical outcome parameters in this short-term trial. In this study, we define the mutational an …
Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures.
Lerario A, Bonfiglio S, Sormani M, Tettamanti A, Marktel S, Napolitano S, Previtali S, Scarlato M, Natali-Sora M, Mercuri E, Bresolin N, Mongini T, Comi G, Gatti R, Ciceri F, Cossu G, Torrente Y. Lerario A, et al. Among authors: scarlato m. BMC Neurol. 2012 Sep 13;12:91. doi: 10.1186/1471-2377-12-91. BMC Neurol. 2012. PMID: 22974002 Free PMC article.
BACKGROUND: The aim of this study was to perform a longitudinal assessment using Quantitative Muscle Testing (QMT) in a cohort of ambulant boys affected by Duchenne muscular dystrophy (DMD) and to correlate the results of QMT with functional measures. This study is to date the mo …
BACKGROUND: The aim of this study was to perform a longitudinal assessment using Quantitative Muscle Testing (QMT) in a cohort of ambulant b …