Anna Rubegni

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Marco Savarese, Lorenzo Maggi, Anna Vihola et al. · JAMA Neurology · 2018 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 84 citations · Full text

Life Sciences, Genetics, Neurology +17

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

Life Sciences, Genetics, Molecular Genetics +11

Next-generation sequencing approach to hyperCKemia

Anna Rubegni, Alessandro Malandrini, Claudia Dosi et al. · Neurology Genetics · 2019 · 47 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Guja Astrea, Alessandro Romano, C. Angelini et al. · Orphanet Journal of Rare Diseases · 2018 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +17