Filocamo M - Search Results

1

A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.

Mirabelli-Badenier M, Severino M, Tappino B, Tortora D, Camia F, Zanaboni C, Brera F, Priolo E, Rossi A, Biancheri R, Di Rocco M, Filocamo M. Mirabelli-Badenier M, et al. Among authors: filocamo m. Metab Brain Dis. 2015 Jun;30(3):681-6. doi: 10.1007/s11011-014-9612-6. Epub 2014 Aug 26. Metab Brain Dis. 2015. PMID: 25156245

2

An Alu insertion in compound heterozygosity with a microduplication in GNPTAB gene underlies Mucolipidosis II.

Tappino B, Regis S, Corsolini F, Filocamo M. Tappino B, et al. Among authors: filocamo m. Mol Genet Metab. 2008 Feb;93(2):129-33. doi: 10.1016/j.ymgme.2007.09.010. Epub 2007 Oct 26. Mol Genet Metab. 2008. PMID: 17964840

3

Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

Biancheri R, Rosano C, Denegri L, Lamantea E, Pinto F, Lanza F, Severino M, Filocamo M. Biancheri R, et al. Among authors: filocamo m. Eur J Hum Genet. 2013 Jan;21(1):34-9. doi: 10.1038/ejhg.2012.93. Epub 2012 Jun 6. Eur J Hum Genet. 2013. PMID: 22669416 Free PMC article.

4

Genetic disorders affecting white matter in the pediatric age.

Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P. Di Rocco M, et al. Among authors: filocamo m. Am J Med Genet B Neuropsychiatr Genet. 2004 Aug 15;129B(1):85-93. doi: 10.1002/ajmg.b.30029. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 15274047 Review.

5

Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

Biancheri R, Rossi A, Alpigiani G, Filocamo M, Gandolfo C, Lorini R, Minetti C. Biancheri R, et al. Among authors: filocamo m. Eur J Paediatr Neurol. 2007 May;11(3):175-7. doi: 10.1016/j.ejpn.2006.11.013. Epub 2007 Jan 24. Eur J Paediatr Neurol. 2007. PMID: 17254819

6

Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Online.

Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M. Donnarumma M, et al. Among authors: filocamo m. Hum Mutat. 2007 May;28(5):524. doi: 10.1002/humu.9490. Hum Mutat. 2007. PMID: 17397052

7

Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.

Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: filocamo m. Eur J Hum Genet. 2008 Apr;16(4):462-70. doi: 10.1038/sj.ejhg.5201995. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197187

8

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M. Tappino B, et al. Among authors: filocamo m. Hum Mutat. 2010 Dec;31(12):E1894-914. doi: 10.1002/humu.21367. Hum Mutat. 2010. PMID: 20886637 Free PMC article.

9

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

Severino M, Lualdi S, Fiorillo C, Striano P, De Toni T, Peluso S, De Michele G, Rossi A, Filocamo M, Bruno C. Severino M, et al. Among authors: filocamo m. J Neurol. 2018 Jun;265(6):1419-1425. doi: 10.1007/s00415-018-8826-7. Epub 2018 Apr 17. J Neurol. 2018. PMID: 29666984

10

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. Ricci V, et al. Among authors: filocamo m. Hum Mutat. 2004 Jul;24(1):105. doi: 10.1002/humu.9258. Hum Mutat. 2004. PMID: 15221801

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

199 results

Search Page

Filters