Filocamo M - Search Results

1

Neonatal chitotriosidase activity is not predictive for Niemann-Pick disease type A/B: implications for newborn screening for lysosomal storage disorders.

Porta F, Pagliardini V, Barbera C, Calvo P, Pagliardini S, Lualdi S, Filocamo M, Spada M. Porta F, et al. Among authors: filocamo m. Mol Genet Metab. 2013 Jan;108(1):106. doi: 10.1016/j.ymgme.2012.11.004. Epub 2012 Nov 16. Mol Genet Metab. 2013. PMID: 23228552 No abstract available.

2

Spontaneous regression of hypertrophic cardiomyopathy in an infant with Pompe's disease.

Spada M, Garelli D, Riggi C, Pagliardini V, Lualdi S, Filocamo M, Porta F. Spada M, et al. Among authors: filocamo m. Mol Genet Metab. 2012 Dec;107(4):763. doi: 10.1016/j.ymgme.2012.10.001. Epub 2012 Oct 11. Mol Genet Metab. 2012. PMID: 23088900 No abstract available.

3

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.

Paciotti S, Persichetti E, Pagliardini S, Deganuto M, Rosano C, Balducci C, Codini M, Filocamo M, Menghini AR, Pagliardini V, Pasqui S, Bembi B, Dardis A, Beccari T. Paciotti S, et al. Among authors: filocamo m. Clin Chim Acta. 2012 Nov 20;413(23-24):1827-31. doi: 10.1016/j.cca.2012.07.011. Epub 2012 Jul 20. Clin Chim Acta. 2012. PMID: 22820396

4

Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.

Regis S, Lualdi S, Biffi A, Sessa M, Corsolini F, Parenti G, Filocamo M. Regis S, et al. Among authors: filocamo m. Mol Genet Metab. 2006 Sep-Oct;89(1-2):150-5. doi: 10.1016/j.ymgme.2006.03.016. Epub 2006 Jun 19. Mol Genet Metab. 2006. PMID: 16782379

5

Mutation identification of Fabry disease in families with other lysosomal storage disorders.

Zampetti A, Fania L, Antuzzi D, Giurdanella F, Gnarra M, Bertola F, Lualdi S, Filocamo M, Morrone A, Feliciani C. Zampetti A, et al. Among authors: filocamo m. Clin Genet. 2013 Sep;84(3):281-5. doi: 10.1111/cge.12071. Epub 2012 Dec 28. Clin Genet. 2013. PMID: 23210910

6

A transcriptional and post-transcriptional dysregulation of Dishevelled 1 and 2 underlies the Wnt signaling impairment in type I Gaucher disease experimental models.

Costa R, Bellesso S, Lualdi S, Manzoli R, Pistorio V, Filocamo M, Moro E. Costa R, et al. Among authors: filocamo m. Hum Mol Genet. 2020 Jan 15;29(2):274-285. doi: 10.1093/hmg/ddz293. Hum Mol Genet. 2020. PMID: 31816052

7

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Bellesso S, Salvalaio M, Lualdi S, Tognon E, Costa R, Braghetta P, Giraudo C, Stramare R, Rigon L, Filocamo M, Tomanin R, Moro E. Bellesso S, et al. Among authors: filocamo m. Hum Mol Genet. 2018 Jul 1;27(13):2262-2275. doi: 10.1093/hmg/ddy131. Hum Mol Genet. 2018. PMID: 29648648

8

FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).

Bellesso S, Salvalaio M, Lualdi S, Tognon E, Costa R, Braghetta P, Giraudo C, Stramare R, Rigon L, Filocamo M, Tomanin R, Moro E. Bellesso S, et al. Among authors: filocamo m. Hum Mol Genet. 2018 Jul 1;27(13):2407. doi: 10.1093/hmg/ddy208. Hum Mol Genet. 2018. PMID: 29917101 No abstract available.

9

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F; TUDP (Telethon Undiagnosed Disease Program); Corton M, Lualdi S, Lanza F, Morana G, Ayuso C, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C. Bedoni N, et al. Among authors: filocamo m. Hum Mol Genet. 2020 Aug 3;29(13):2250-2260. doi: 10.1093/hmg/ddaa112. Hum Mol Genet. 2020. PMID: 32533184

10

Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.

Lualdi S, Di Rocco M, Corsolini F, Spada M, Bembi B, Cotugno G, Battini R, Stroppiano M, Gabriela Pittis M, Filocamo M. Lualdi S, et al. Among authors: filocamo m. Biochim Biophys Acta. 2006 Apr;1762(4):478-84. doi: 10.1016/j.bbadis.2006.01.003. Epub 2006 Feb 9. Biochim Biophys Acta. 2006. PMID: 16495038 Free article.

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