Nicoletta Zanotta

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation

Romina Romaniello, Claudio Zucca, A. Tonelli et al. · Journal of Neurology Neurosurgery & Psychiatry · 2010 · 64 citations

Life Sciences, Genetics, Neurology +17

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA

María Clara Bonaglia, Nicoletta Zanotta, Roberto Giorda et al. · Molecular Cytogenetics · 2015 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2016 · 55 citations · Full text

Life Sciences, Genetics, Neurology +17

Epilepsy in Mowat–Wilson syndrome: Delineation of the electroclinical phenotype

Duccio Maria Cordelli, Livia Garavelli, Salvatore Savasta et al. · American Journal of Medical Genetics Part A · 2013 · 49 citations

Medicine, Genetics, Neurology +17