Antonella Casella

ALS5/SPG11/<i>KIAA1840</i>mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

Celeste Montecchiani, Lucia Pedace, Temistocle Lo Giudice et al. · Brain · 2015 · 100 citations · Full text

Life Sciences, Genetics, Neurology +14

Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients

Roberto Tiribuzi, Lucia Crispoltoni, Valerio Chiurchiù et al. · Journal of the Neurological Sciences · 2016 · 68 citations

Life Sciences, Neuroscience, Pharmacology +14

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

Roberta De Mori, Marta Romani, Stefano D’Arrigo et al. · The American Journal of Human Genetics · 2017 · 63 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Age and sex prevalence estimate of Joubert syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino et al. · Neurology · 2020 · 47 citations · Full text

Medicine, Neurology, Pediatrics +13

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

Sara Nuovo, Alessia Micalizzi, Romina Romaniello et al. · Journal of Medical Genetics · 2021 · 19 citations

Life Sciences, Genetics, Molecular Genetics +17