Manuela Casarano

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Treatment with<scp>l</scp>-Arginine improves neuropsychological disorders in a child with Creatine transporter defect

Anna Maria Chilosi, Vincenzo Leuzzi, Roberta Battini et al. · Neurocase · 2008 · 49 citations

Medicine, Neuroscience, Pediatrics +17

Cognitive, adaptive, and behavioral features in Joubert syndrome

Sara Bulgheroni, Stefano D’Arrigo, Sabrina Signorini et al. · American Journal of Medical Genetics Part A · 2016 · 35 citations

Medicine, Neurology, Neuroscience +17

Variant of Rett Syndrome and CDKL5 Gene: Clinical and Autonomic Description of 10 Cases

Giorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström et al. · Neuropediatrics · 2012 · 31 citations · Full text

Life Sciences, Genetics, Neurology +14

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (<i>SLC6A8</i>) mutation

Roberta Battini, Anna Maria Chilosi, Davide Mei et al. · American Journal of Medical Genetics Part A · 2007 · 29 citations

Education, Neurology, Neuroscience +17