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The Journal of Experimental Medicine|August 15, 2012
The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone developmentDavide Rossi, Vladimir Trifonov, Marco Fangazio, et al.
American Journal of Human Genetics|April 2, 2021
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genesCarolina Courage, Karen L Oliver, Eon Joo Park, et al.
Annals of Neurology|April 6, 2017
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel propertiesKaren L Oliver, Silvana Franceschetti, Carol J Milligan, et al.
Annals of Surgery|October 26, 2012
Barrett's esophagus and adenocarcinoma risk: the experience of the North-Eastern Italian Registry (EBRA)Massimo Rugge, Giovanni Zaninotto, Paola Parente, et al.
BJS Open|March 4, 2025
Inter-rater variability for the American Society of Anesthesiologists classification in patients undergoing hepato-pancreato-biliary surgery (MILESTONE-2): international survey among surgeons and anaesthesiologistsSimone Augustinus, Jasper P Sijberden, Matthanja Bieze, et al.
Nature Genetics|November 18, 2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsyMikko Muona, Samuel F Berkovic, Leanne M Dibbens, et al.
Legal Medicine (Tokyo, Japan)|September 25, 2025
Towards a standard of scientific evidence in on-site inspection: compilation of the ECLM on-site inspection form in a broad case historyJessika Camatti, Anna Laura Santunione, Monica Bolognini, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 4, 2019
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary resultsAnna Bersano, Gloria Bedini, Sara Nava, et al.
Legal Medicine (Tokyo, Japan)|September 10, 2025
A nationwide forensic case-series of femicides in Italy - Part 1: Clues to the motives of the murderRossana Cecchi, Anna Laura Santunione, Jessika Camatti, et al.
Brain : a Journal of Neurology|October 24, 2018
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyondCarla Marini, Alessandro Porro, Agnès Rastetter, et al.
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