Salvatore Rossi

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Andrea Cortese, Stefano Tozza, Wai Yan Yau et al. · Brain · 2020 · 213 citations · Full text

Vestibular Areflexia Syndrome, Motor Dysfunction, Neurological Disorder +18

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

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

Maria Lieto, Vittorio Riso, Daniele Galatolo et al. · European Journal of Neurology · 2019 · 55 citations

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

Salvatore Rossi, Giacomo Della Marca, Martina Ricci et al. · Journal of the Neurological Sciences · 2019 · 40 citations · Full text

Rare Diseases, Respiratory Impairment, Predictor Factors +2

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)

Massimo Santoro, Luana Fontana, Marcella Masciullo et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2015 · 31 citations · Full text

Dmpk Locus, Chromatin, Expanded Ctg Array +6