Filocamo M - Search Results

1

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.

Motta I, Filocamo M, Poggiali E, Stroppiano M, Dragani A, Consonni D, Barcellini W, Gaidano G, Facchini L, Specchia G, Cappellini MD; Splenomegaly Gaucher Disease study group. Motta I, et al. Among authors: filocamo m. Eur J Haematol. 2016 Apr;96(4):352-9. doi: 10.1111/ejh.12596. Epub 2015 Jun 11. Eur J Haematol. 2016. PMID: 26033455

2

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. Among authors: filocamo m. 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

3

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.

Motta I, Consonni D, Stroppiano M, Benedetto C, Cassinerio E, Tappino B, Ranalli P, Borin L, Facchini L, Patriarca A, Barcellini W, Lanza F, Filocamo M, Cappellini MD; Splenomegaly Gaucher group. Motta I, et al. Among authors: filocamo m. Sci Rep. 2021 Jan 28;11(1):2594. doi: 10.1038/s41598-021-82296-z. Sci Rep. 2021. PMID: 33510429 Free PMC article. Clinical Trial.

4

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. Epilepsia. 2004 Sep;45(9):1154-7. doi: 10.1111/j.0013-9580.2004.15904.x. Epilepsia. 2004. PMID: 15329082 Free article.

5

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. Hum Mutat. 2002 Sep;20(3):234-5. doi: 10.1002/humu.9058. Hum Mutat. 2002. PMID: 12204005

6

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: filocamo 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

7

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: filocamo m. Hum Hered. 2000 Nov-Dec;50(6):331-3. doi: 10.1159/000022938. Hum Hered. 2000. PMID: 10899751

8

Somatic mosaicism in a patient with Gaucher disease type 2: implication for genetic counseling and therapeutic decision-making.

Filocamo M, Bonuccelli G, Mazzotti R, Corsolini F, Stroppiano M, Regis S, Gatti R. Filocamo M, et al. Blood Cells Mol Dis. 2000 Dec;26(6):611-2. doi: 10.1006/bcmd.2000.0341. Blood Cells Mol Dis. 2000. PMID: 11358352 No abstract available.

9

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. Among authors: filocamo m. Am J Med Genet. 2001 Jun 1;101(1):55-8. doi: 10.1002/ajmg.1310. Am J Med Genet. 2001. PMID: 11343339

10

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Ricci V, Filocamo M, Regis S, Corsolini F, Stroppiano M, Di Duca M, Gatti R. Ricci V, et al. Among authors: filocamo m. Am J Med Genet A. 2003 Jul 1;120A(1):84-7. doi: 10.1002/ajmg.a.10215. Am J Med Genet A. 2003. PMID: 12794697

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