Biancheri R - Search Results

1

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

2

A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LD, Bado M, Greco M, Zeviani M, Minetti C. Bruno C, et al. Among authors: biancheri r. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

3

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: biancheri r. 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.

4

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

5

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biancheri R, Falace A, Tessa A, Pedemonte M, Scapolan S, Cassandrini D, Aiello C, Rossi A, Broda P, Zara F, Santorelli FM, Minetti C, Bruno C. Biancheri R, et al. Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. doi: 10.1016/j.bbrc.2007.09.066. Epub 2007 Sep 25. Biochem Biophys Res Commun. 2007. PMID: 17923109

6

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

Traverso M, Yuregir OO, Mimouni-Bloch A, Rossi A, Aslan H, Gazzerro E, Baldassari S, Fruscione F, Minetti C, Zara F, Biancheri R. Traverso M, et al. Among authors: biancheri r. Eur J Paediatr Neurol. 2013 Jan;17(1):108-11. doi: 10.1016/j.ejpn.2012.06.004. Epub 2012 Jun 30. Eur J Paediatr Neurol. 2013. PMID: 22749724

7

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

8

EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.

Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM. Biancheri R, et al. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332

9

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. Neurology. 2003 Dec 23;61(12):1818-9. doi: 10.1212/01.wnl.0000098994.35677.3c. Neurology. 2003. PMID: 14694060 No abstract available.

10

Middle interhemispheric variant of holoprosencephaly: a very mild clinical case.

Biancheri R, Rossi A, Tortori-Donati P, Stringara S, Bonifacino S, Minetti C. Biancheri R, et al. Neurology. 2004 Dec 14;63(11):2194-6. doi: 10.1212/01.wnl.0000145831.36681.84. Neurology. 2004. PMID: 15596788 No abstract available.

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