Alessia Micalizzi

A Homozygous<i>PDE6D</i>Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre et al. · Human Mutation · 2013 · 126 citations · Full text

Neurogenomics, Joubert Syndrome, Lysosomal Storage Disease +23

Mutations in <i>CEP120</i> cause Joubert syndrome as well as complex ciliopathy phenotypes

Susanne Roosing, Marta Romani, Mala Isrie et al. · Journal of Medical Genetics · 2016 · 63 citations · Full text

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)

Alessia Micalizzi, Andrea Poretti, Marta Romani et al. · European Journal of Human Genetics · 2016 · 59 citations · Full text

Molecular Characterization, Degenerative Disease, Neurology +4

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 · 58 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

Age and sex prevalence estimate of Joubert syndrome in Italy

Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino et al. · Neurology · 2020 · 46 citations · Full text