Filocamo M - Search Results

1

Leukoencephalopathy with vanishing white matter:: an adult onset case.

Biancheri R, Rossi A, Di Rocco M, Filocamo M, Pronk JC, van der Knaap MS, Tortori-Donati P. Biancheri R, et al. Among authors: filocamo m. Neurology. 2003 Dec 23;61(12):1818-9. doi: 10.1212/01.wnl.0000098994.35677.3c. Neurology. 2003. PMID: 14694060 No abstract available.

2

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.

3

Different molecular mechanisms leading to white matter hypomyelination in infantile onset lysosomal disorders.

Di Rocco M, Rossi A, Parenti G, Allegri AE, Filocamo M, Pessagno A, Tortori-Donati P, Minetti C, Biancheri R. Di Rocco M, et al. Among authors: filocamo m. Neuropediatrics. 2005 Aug;36(4):265-9. doi: 10.1055/s-2005-865863. Neuropediatrics. 2005. PMID: 16138252

4

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

5

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

6

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M. Biancheri R, et al. Among authors: filocamo m. Neurogenetics. 2005 Dec;6(4):195-9. doi: 10.1007/s10048-005-0011-3. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16170568

7

Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease.

Morana G, Biancheri R, Dirocco M, Filocamo M, Marazzi MG, Pessagno A, Rossi A. Morana G, et al. Among authors: filocamo m. Neuropediatrics. 2009 Dec;40(6):291-4. doi: 10.1055/s-0030-1249654. Epub 2010 May 5. Neuropediatrics. 2009. PMID: 20446225

8

Sjögren-Larsson syndrome: nuclear magnetic resonance imaging of the brain in a 4-year-old boy.

Di Rocco M, Filocamo M, Tortori-Donati P, Veneselli E, Borrone C, Rizzo WB. Di Rocco M, et al. Among authors: filocamo m. J Inherit Metab Dis. 1994;17(1):112-4. doi: 10.1007/BF00735407. J Inherit Metab Dis. 1994. PMID: 8051916 No abstract available.

9

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

10

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F, Biancheri R, Seri M, Rossi A, Pessagno A, Bugiani M, Corsolini F, Savasta S, Romano S, Antonelli C, Romano A, Pareyson D, Gambero P, Uziel G, Ravazzolo R, Ceccherini I, Filocamo M. Caroli F, et al. Among authors: filocamo m. Clin Genet. 2007 Nov;72(5):427-33. doi: 10.1111/j.1399-0004.2007.00869.x. Epub 2007 Sep 25. Clin Genet. 2007. PMID: 17894839

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