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Neurogenetics|March 3, 2009
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutationsTatiana Fancello, Andrea Dardis, Camillo Rosano, et al.
Orphanet Journal of Rare Diseases|September 24, 2020
Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?Maja Di Rocco, Alessio Di Fonzo, Antonio Barbato, et al.
Brain & Development|March 3, 2020
Schimke immuno-osseous dysplasia, two new cases with peculiar EEG patternGiulia Prato, Elisa De Grandis, Maria Margherita Mancardi, et al.
Human Mutation|July 28, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patientsBarbara Tappino, Nadia A Chuzhanova, Stefano Regis, et al.
European Journal of Internal Medicine|August 15, 2016
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in EuropeNadia Belmatoug, Maja Di Rocco, Cristina Fraga, et al.
Journal of Neurology|April 9, 2013
EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvementRoberta Biancheri, Denise Cassandrini, Francesca Pinto, et al.
Genes|October 17, 2019
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, et al.
Biochemical and Biophysical Research Communications|March 15, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndromeClaudio Bruno, Enrico Bertini, Maja Di Rocco, et al.
Molecular Genetics & Genomic Medicine|August 12, 2020
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experienceRita Fischetto, Valentina Palladino, Maria M Mancardi, et al.
Atherosclerosis|September 8, 2017
Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variantsLivia Pisciotta, Giulia Tozzi, Lorena Travaglini, et al.
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