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American Journal of Medical Genetics. Part A|December 6, 2024
Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor SyndromeAgnese Feresin, Beatrice Spedicati, Stefania Zampieri, et al.Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.Gene|March 24, 2012
Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutationStefania Zampieri, Annalisa Montalvo, Mariana Blanco, et al.European Journal of Human Genetics : EJHG|September 12, 2013
Functional analysis of 11 novel GBA allelesErika Malini, Serena Grossi, Marta Deganuto, et al.Movement Disorders : Official Journal of the Movement Disorder Society|August 27, 2017
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patientsLucilla Parnetti, Silvia Paciotti, Paolo Eusebi, et al.Orphanet Journal of Rare Diseases|September 18, 2014
Effects of miglustat treatment in a patient affected by an atypical form of Tangier diseaseAnnalisa Sechi, Andrea Dardis, Stefania Zampieri, et al.Journal of Clinical Medicine|October 23, 2021
Plasma Neurofilament Light (NfL) in Patients Affected by Niemann-Pick Type C Disease (NPCD)Andrea Dardis, Eleonora Pavan, Martina Fabris, et al.American Journal of Medical Genetics. Part A|June 26, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variantsCristina Peduto, Gerarda Cappuccio, Roberta Zeuli, et al.Journal of Neurology|December 25, 2014
Phenotypic heterogeneity of Niemann-Pick disease type C in monozygotic twinsAlberto Benussi, Antonella Alberici, Enrico Premi, et al.Pageof 5