Stroppiano M - Search Results

1

Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling.

Zancan I, Bellesso S, Costa R, Salvalaio M, Stroppiano M, Hammond C, Argenton F, Filocamo M, Moro E. Zancan I, et al. Among authors: stroppiano m. Hum Mol Genet. 2015 Mar 1;24(5):1280-94. doi: 10.1093/hmg/ddu538. Epub 2014 Oct 17. Hum Mol Genet. 2015. PMID: 25326392

2

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.

Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M. Regis S, et al. Among authors: stroppiano m. Hum Genet. 2002 Apr;110(4):351-5. doi: 10.1007/s00439-002-0701-y. Epub 2002 Mar 8. Hum Genet. 2002. PMID: 11941485

3

Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.

Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R. Filocamo M, et al. Among authors: stroppiano m. Hum Mutat. 2002 Sep;20(3):234-5. doi: 10.1002/humu.9058. Hum Mutat. 2002. PMID: 12204005

4

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).

Stroppiano M, Bonuccelli G, Corsolini F, Filocamo M. Stroppiano M, et al. Am J Med Genet. 2001 Jun 1;101(1):55-8. doi: 10.1002/ajmg.1310. Am J Med Genet. 2001. PMID: 11343339

5

A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Caroli F, Gatti R. Regis S, et al. Among authors: stroppiano m. Hum Genet. 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652. Hum Genet. 1998. PMID: 9490297

6

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).

Filocamo M, Mazzotti R, Stroppiano M, Grossi S, Dravet C, Guerrini R. Filocamo M, et al. Among authors: stroppiano m. Epilepsia. 2004 Sep;45(9):1154-7. doi: 10.1111/j.0013-9580.2004.15904.x. Epilepsia. 2004. PMID: 15329082 Free article.

7

Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method.

Lualdi S, Regis S, Di Rocco M, Corsolini F, Stroppiano M, Antuzzi D, Filocamo M. Lualdi S, et al. Among authors: stroppiano m. Hum Mutat. 2005 May;25(5):491-7. doi: 10.1002/humu.20165. Hum Mutat. 2005. PMID: 15832315

8

Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients.

Stroppiano M, Calevo MG, Corsolini F, Cassanello M, Cassinerio E, Lanza F, Stroppiana G, Cappellini MD, Filocamo M. Stroppiano M, et al. Clin Biochem. 2014 Sep;47(13-14):1293-6. doi: 10.1016/j.clinbiochem.2014.06.005. Epub 2014 Jun 16. Clin Biochem. 2014. PMID: 24945105

9

Evidence for a founder effect in Sicilian patients with glycogen storage disease type II.

Dagnino F, Stroppiano M, Regis S, Bonuccelli G, Filocamo M. Dagnino F, et al. Among authors: stroppiano m. Hum Hered. 2000 Nov-Dec;50(6):331-3. doi: 10.1159/000022938. Hum Hered. 2000. PMID: 10899751

10

Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from Italy.

Regis S, Filocamo M, Stroppiano M, Corsolini F, Gatti R. Regis S, et al. Among authors: stroppiano m. J Med Genet. 1996 Mar;33(3):251-2. doi: 10.1136/jmg.33.3.251. J Med Genet. 1996. PMID: 8728704 Free PMC article.

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