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Human Mutation|January 28, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.
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|June 8, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over studyAnnalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, et al.
Journal of Inherited Metabolic Disease|November 11, 2019
Mechanistic convergence and shared therapeutic targets in Niemann-Pick diseaseAlexandria Colaco, Ecem Kaya, Elias Adriaenssens, et al.
Ebiomedicine|December 1, 2018
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidaseCathrine K Fog, Paola Zago, Erika Malini, 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.
Plos One|August 1, 2012
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variantsStefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, et al.
Neurology. Clinical Practice|February 13, 2018
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An updateMarc C Patterson, Peter Clayton, Paul Gissen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 18, 2014
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's diseaseLucilla Parnetti, Davide Chiasserini, Emanuele Persichetti, et al.
Orphanet Journal of Rare Diseases|February 15, 2022
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)Shaun C Bolton, Vina Soran, Mercedes Pineda Marfa, et al.
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