Biancheri R - Search Results

1

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

Striano P, Mancardi MM, Biancheri R, Madia F, Gennaro E, Paravidino R, Beccaria F, Capovilla G, Dalla Bernardina B, Darra F, Elia M, Giordano L, Gobbi G, Granata T, Ragona F, Guerrini R, Marini C, Mei D, Longaretti F, Romeo A, Siri L, Specchio N, Vigevano F, Striano S, Tortora F, Rossi A, Minetti C, Dravet C, Gaggero R, Zara F. Striano P, et al. Among authors: biancheri r. Epilepsia. 2007 Jun;48(6):1092-6. doi: 10.1111/j.1528-1167.2007.01020.x. Epub 2007 Mar 22. Epilepsia. 2007. PMID: 17381446 Free article.

2

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy.

Madia F, Striano P, Gennaro E, Malacarne M, Paravidino R, Biancheri R, Budetta M, Cilio MR, Gaggero R, Pierluigi M, Minetti C, Zara F. Madia F, et al. Among authors: biancheri r. Neurology. 2006 Oct 10;67(7):1230-5. doi: 10.1212/01.wnl.0000238513.70878.54. Neurology. 2006. PMID: 17030758

3

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Biancheri R, Bertini E, Falace A, Pedemonte M, Rossi A, D'Amico A, Scapolan S, Bergamino L, Petrini S, Cassandrini D, Broda P, Manfredi M, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

4

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations.

Striano P, Specchio N, Biancheri R, Cannelli N, Simonati A, Cassandrini D, Rossi A, Bruno C, Fusco L, Gaggero R, Vigevano F, Bertini E, Zara F, Santorelli FM, Striano S. Striano P, et al. Among authors: biancheri r. Epilepsy Behav. 2007 Feb;10(1):187-91. doi: 10.1016/j.yebeh.2006.10.009. Epub 2006 Nov 28. Epilepsy Behav. 2007. PMID: 17129765

5

Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.

Biancheri R, Cerone R, Rossi A, Schiaffino MC, Caruso U, Minniti G, Perrone MV, Tortori-Donati P, Veneselli E. Biancheri R, et al. Epilepsia. 2002 Jun;43(6):616-22. doi: 10.1046/j.1528-1157.2002.24001.x. Epilepsia. 2002. PMID: 12060021 Free article.

6

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. 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

7

Hypomyelination and congenital cataract: broadening the clinical phenotype.

Biancheri R, Zara F, Rossi A, Mathot M, Nassogne MC, Yalcinkaya C, Erturk O, Tuysuz B, Di Rocco M, Gazzerro E, Bugiani M, van Spaendonk R, Sistermans EA, Minetti C, van der Knaap MS, Wolf NI. Biancheri R, et al. Arch Neurol. 2011 Sep;68(9):1191-4. doi: 10.1001/archneurol.2011.201. Arch Neurol. 2011. PMID: 21911699 Review.

8

Magnetic resonance imaging "tigroid pattern" in Alexander disease.

Biancheri R, Rossi A, Ceccherini I, Pezzella M, Prato G, Striano P, Minetti C. Biancheri R, et al. Neuropediatrics. 2013 Jun;44(3):174-6. doi: 10.1055/s-0032-1329910. Epub 2012 Dec 19. Neuropediatrics. 2013. PMID: 23254569

9

Magnetic resonance spectroscopy in metabolic disorders.

Rossi A, Biancheri R. Rossi A, et al. Among authors: biancheri r. Neuroimaging Clin N Am. 2013 Aug;23(3):425-48. doi: 10.1016/j.nic.2012.12.013. Epub 2013 Feb 10. Neuroimaging Clin N Am. 2013. PMID: 23928198 Review.

10

Periventricular nodular heterotopia in Smith-Magenis syndrome.

Capra V, Biancheri R, Morana G, Striano P, Novara F, Ferrero GB, Boeri L, Celle ME, Mancardi MM, Zuffardi O, Parrini E, Guerrini R. Capra V, et al. Among authors: biancheri r. Am J Med Genet A. 2014 Dec;164A(12):3142-7. doi: 10.1002/ajmg.a.36742. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257626

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