Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type I
Da Ros, T, Ostric, A, Andreola, F, Filocamo, M, Pietrogrande, M, Corsolini, F, Stroppiano, M, Bruni, S, Serafino, A, Fiorito, S
Published in Nanoscale (01.01.2018)
Published in Nanoscale (01.01.2018)
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Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II
Montalvo, A.L.E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M.G.
Published in Human mutation (01.10.2006)
Published in Human mutation (01.10.2006)
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Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease
Pittis, MG, Donnarumma, M, Montalvo, ALE, Dominissini, S, Kroos, M, Rosano, C, Stroppiano, M, Bianco, MG, Donati, MA, Parenti, G, D'Amico, A, Ciana, G, Di Rocco, M, Reuser, A, Bembi, B, Filocamo, M
Published in Human mutation (01.06.2008)
Published in Human mutation (01.06.2008)
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Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon
Pittis, M.G., Ricci, V., Guerci, V. I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M.T., Filocamo, M., Bembi, B.
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, in SMPD1
Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R., Filocamo, M.
Published in Human mutation (01.07.2004)
Published in Human mutation (01.07.2004)
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Plasma chitotriosidase activity in cystic fibrosis patients
Minicucci, L, De Alessandri, A, Casciaro, R, Tambroni, B, Notarnicola, S, Muraca, M, Stroppiano, M
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation
MIANO, M, LANINO, E, GATTI, R, MORREALE, G, FONDELLI, P, CELLE, M. E, STROPPIANO, M, CRESCENZI, F, DINI, G
Published in Bone marrow transplantation (Basingstoke) (01.04.2001)
Published in Bone marrow transplantation (Basingstoke) (01.04.2001)
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Carbon nanotubes as nanovectors for intracellular delivery of laronidase in Mucopolysaccharidosis type IElectronic supplementary information (ESI) available. See DOI: 10.1039/c7nr07393c
Da Ros, T, Ostric, A, Andreola, F, Filocamo, M, Pietrogrande, M, Corsolini, F, Stroppiano, M, Bruni, S, Serafino, A, Fiorito, S
Year of Publication 03.01.2018
Year of Publication 03.01.2018
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Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method
Lualdi, Susanna, Regis, Stefano, Di Rocco, Maja, Corsolini, Fabio, Stroppiano, Marina, Antuzzi, Daniela, Filocamo, Mirella
Published in Human mutation (01.05.2005)
Published in Human mutation (01.05.2005)
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Cytochrome c oxidase deficiency in three patients with Leigh's disease
Di Rocco, M, Veneselli, E, Ciccone, M O, Taccone, A, Stroppiano, M, Cottafava, F
Published in Journal of inherited metabolic disease (01.06.1988)
Published in Journal of inherited metabolic disease (01.06.1988)
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Early Visual Seizures and Progressive Myoclonus Epilepsy in Neuronopathic Gaucher Disease Due to a Rare Compound Heterozygosity (N188S/S107L)
Filocamo, Mirella, Mazzotti, Raffaella, Stroppiano, Marina, Grossi, Serena, Dravet, Charlotte, Guerrini, Renzo
Published in Epilepsia (Copenhagen) (01.09.2004)
Published in Epilepsia (Copenhagen) (01.09.2004)
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Journal Article
Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II
Montalvo, A.L.E., Bembi, B., Donnarumma, M., Filocamo, M., Parenti, G., Rossi, M., Merlini, L., Buratti, E., De Filippi, P., Dardis, A., Stroppiano, M., Ciana, G., Pittis, M.G.
Published in Human mutation (01.10.2006)
Published in Human mutation (01.10.2006)
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Acid sphingomyelinase: Identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon: MUTATIONS IN BRIEF
Pittis, M.G., Ricci, V., Guerci, V. I., Marçais, C., Ciana, G., Dardis, A., Gerin, F., Stroppiano, M., Vanier, M.T., Filocamo, M., Bembi, B.
Published in Human mutation (01.08.2004)
Published in Human mutation (01.08.2004)
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Journal Article
Screening of 25 Italian patients with Niemann-Pick a reveals fourteen new mutations, one common and thirteen private, inSMPD1
Ricci, V., Stroppiano, M., Corsolini, F., Di Rocco, M., Parenti, G., Regis, S., Grossi, S., Biancheri, R., Mazzotti, R., Filocamo, M.
Published in Human mutation (01.07.2004)
Published in Human mutation (01.07.2004)
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Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease
Filocamo, Mirella, Grossi, Serena, Stroppiano, Marina, Tortori-Donati, Paolo, Regis, Stefano, Allegri, Anna, Di Rocco, Maja
Published in American journal of medical genetics. Part A (01.04.2005)
Published in American journal of medical genetics. Part A (01.04.2005)
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Expression studies of two novel in CIS‐mutations identified in an intermediate case of Hunter syndrome
Ricci, Verena, Filocamo, Mirella, Regis, Stefano, Corsolini, Fabio, Stroppiano, Marina, Duca, Marco Di, Gatti, Rosanna
Published in American journal of medical genetics. Part A (01.07.2003)
Published in American journal of medical genetics. Part A (01.07.2003)
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