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Genes|February 25, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of <i>RYR1</i>-Related MyopathiesClaudia Dosi, Anna Rubegni, Jacopo Baldacci, et al.
Neurology. Genetics|April 4, 2022
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY NetworkSalvatore Rossi, Anna Rubegni, Vittorio Riso, et al.
Frontiers in Neurology|December 20, 2018
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional StudyAngelica D'Amore, Alessandra Tessa, Carlo Casali, et al.
Frontiers in Genetics|March 21, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide StudyMarcella Neri, Rachele Rossi, Cecilia Trabanelli, et al.
Neurology|June 10, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMarco Savarese, Giuseppina Di Fruscio, Annalaura Torella, et al.
Brain : a Journal of Neurology|January 9, 2024
Role of the repeat expansion size in predicting age of onset and severity in RFC1 diseaseRiccardo Currò, Natalia Dominik, Stefano Facchini, et al.
Human Molecular Genetics|July 21, 2022
Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.
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