Stroppiano M - Search Results

1

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: stroppiano 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.

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. 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

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: stroppiano 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

4

Defective FAS-Mediated Apoptosis and Immune Dysregulation in Gaucher Disease.

Miano M, Madeo A, Cappelli E, Lanza F, Lanza T, Stroppiano M, Terranova P, Venè R, Bleesing JJH, Di Rocco M. Miano M, et al. Among authors: stroppiano m. J Allergy Clin Immunol Pract. 2020 Nov-Dec;8(10):3535-3542. doi: 10.1016/j.jaip.2020.06.065. Epub 2020 Jul 21. J Allergy Clin Immunol Pract. 2020. PMID: 32702516

5

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.

6

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

7

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. Among authors: stroppiano m. 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.

8

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

9

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

10

A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.

Siri L, Rossi A, Lanza F, Mazzotti R, Costa A, Stroppiano M, Gaiero A, Cohen A, Biancheri R, Filocamo M. Siri L, et al. Among authors: stroppiano m. Neurogenetics. 2014 May;15(2):101-6. doi: 10.1007/s10048-014-0390-4. Epub 2014 Jan 31. Neurogenetics. 2014. PMID: 24478108

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

33 results

Search Page