Anna Rubegni

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola et al. · JAMA Neurology · 2018 · 91 citations · Full text

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Angelica D’Amore, Alessandra Tessa, Carlo Casali et al. · Frontiers in Neurology · 2018 · 81 citations · Full text

Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort

Fabiana Fattori, Lorenzo Maggi, Claudio Bruno et al. · Journal of Neurology · 2015 · 60 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Next-generation sequencing approach to hyperCKemia

Anna Rubegni, Alessandro Malandrini, Claudia Dosi et al. · Neurology Genetics · 2019 · 45 citations · Full text

Identification of mutations in <i>AP4S1/</i>SPG52 through next generation sequencing in three families

Alessandra Tessa, Roberta Battini, Anna Rubegni et al. · European Journal of Neurology · 2016 · 38 citations