Teresa Giugliano

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

The genetic basis of undiagnosed muscular dystrophies and myopathies

Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella et al. · Neurology · 2016 · 102 citations · Full text

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

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli et al. · PLoS ONE · 2020 · 56 citations · Full text

Dmd Mutations, Genetic Diseases, Functional Genomics +13

Motor Chip: A Comparative Genomic Hybridization Microarray for Copy-Number Mutations in 245 Neuromuscular Disorders

Giulio Piluso, Manuela Dionisi, Francesca Del Vecchio Blanco et al. · Clinical Chemistry · 2011 · 48 citations · Full text