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Neurology|February 8, 2020
Accuracy of a machine learning muscle MRI-based tool for the diagnosis of muscular dystrophiesJosé Verdú-Díaz, Jorge Alonso-Pérez, Claudia Nuñez-Peralta, et al.
European Journal of Human Genetics : EJHG|January 24, 2018
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variantsClaudia Castiglioni, Fabiana Fattori, Bjarne Udd, et al.
Frontiers in Neurology|March 15, 2021
Fast Open-Source Toolkit for Water T2 Mapping in the Presence of Fat From Multi-Echo Spin-Echo Acquisitions for Muscle MRIFrancesco Santini, Xeni Deligianni, Matteo Paoletti, et al.
Neuroscience Letters|November 15, 2011
Multi-organ investigation in 16 CADASIL families from central Italy sharing the same R1006C mutationMichele Ragno, Luigi Pianese, Gabriella Cacchiò, et al.
Plos One|June 17, 2014
Upper girdle imaging in facioscapulohumeral muscular dystrophyGiorgio Tasca, Mauro Monforte, Elisabetta Iannaccone, et al.
Scientific Reports|August 27, 2017
Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patientsLorena Di Pietro, Mirko Baranzini, Maria Grazia Berardinelli, et al.
Frontiers in Neurology|March 13, 2023
Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral diseaseGiulia Colelli, Leonardo Barzaghi, Matteo Paoletti, et al.
Frontiers in Genetics|September 7, 2023
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHDClaudia Strafella, Valerio Caputo, Sara Bortolani, et al.
Neurobiology of Aging|December 29, 2016
Matrin 3 variants are frequent in Italian ALS patientsGiuseppe Marangi, Serena Lattante, Paolo Niccolò Doronzio, et al.
Neuropediatrics|May 31, 2023
Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1Chiara Panicucci, Sara Casalini, Monica Traverso, et al.
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