Minetti C - 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. Among authors: minetti c. 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: minetti c. J Child Neurol. 2002 Mar;17(3):233-6. doi: 10.1177/088307380201700318. J Child Neurol. 2002. PMID: 12026244

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. Among authors: minetti c. Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491. Arch Neurol. 2006. PMID: 17030669

4

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. Among authors: minetti c. 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

5

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: minetti c. 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

6

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. Among authors: minetti c. Neuropediatrics. 2013 Jun;44(3):174-6. doi: 10.1055/s-0032-1329910. Epub 2012 Dec 19. Neuropediatrics. 2013. PMID: 23254569

7

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. Among authors: minetti c. J Neurol. 2013 Jul;260(7):1866-70. doi: 10.1007/s00415-013-6896-0. Epub 2013 Apr 7. J Neurol. 2013. PMID: 23564332

8

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. Among authors: minetti c. Neurology. 2004 Dec 14;63(11):2194-6. doi: 10.1212/01.wnl.0000145831.36681.84. Neurology. 2004. PMID: 15596788 No abstract available.

9

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: minetti c. Neurogenetics. 2005 Dec;6(4):195-9. doi: 10.1007/s10048-005-0011-3. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16170568

10

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: minetti c. 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.

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