M. Mascaretti

Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children

Cristina Cuoco, Patrizia Ronchetto, Stefania Gimelli et al. · Orphanet Journal of Rare Diseases · 2011 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

Simona Orcesi, A Pessagno, Roberta Biancheri et al. · European Journal of Paediatric Neurology · 2008 · 33 citations

Medicine, Hematology, Neurology +5

Cognitive Profile in Spastic Paraplegia with Thin Corpus Callosum and Mutations in<i>SPG11</i>

Laura Siri, Francesca Battaglia, Alessandra Tessa et al. · Neuropediatrics · 2010 · 19 citations

Medicine, Neurology, Neuroscience +17

A case of neonatal human parechovirus encephalitis with a favourable outcome

Salvatore Renna, Laura Bergamino, Daniela Pirlo et al. · Brain and Development · 2013 · 18 citations

Medicine, Infectious Diseases, Neurology +14