Biancheri R - Search Results

1

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features.

Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Manganelli F, Santoro L, Schenone A, Bellone E, Minetti C. Biancheri R, et al. J Neurol. 2006 Sep;253(9):1234-5. doi: 10.1007/s00415-006-0149-4. Epub 2006 Apr 10. J Neurol. 2006. PMID: 16607474 No abstract available.

2

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

3

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

4

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

5

Phenotypic characterization of hypomyelination and congenital cataract.

Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C. Biancheri R, et al. Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175. Ann Neurol. 2007. PMID: 17683097

6

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.

7

White matter involvement in a family with a novel PDGFB mutation.

Biancheri R, Severino M, Robbiano A, Iacomino M, Del Sette M, Minetti C, Cervasio M, Del Basso De Caro M, Striano P, Zara F. Biancheri R, et al. Neurol Genet. 2016 May 5;2(3):e77. doi: 10.1212/NXG.0000000000000077. eCollection 2016 Jun. Neurol Genet. 2016. PMID: 27227165 Free PMC article.

8

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood.

De Grandis E, Stagnaro M, Biancheri R, Giannotta M, Gobbi G, Traverso M, Veneselli E, Zara F. De Grandis E, et al. Among authors: biancheri r. J Child Neurol. 2013 Jul;28(7):863-6. doi: 10.1177/0883073812452789. Epub 2012 Aug 16. J Child Neurol. 2013. PMID: 22899793

9

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.

Cassandrini D, Biancheri R, Tessa A, Di Rocco M, Di Capua M, Bruno C, Denora PS, Sartori S, Rossi A, Nozza P, Emma F, Mezzano P, Politi MR, Laverda AM, Zara F, Pavone L, Simonati A, Leuzzi V, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: biancheri r. Neurology. 2010 Oct 19;75(16):1459-64. doi: 10.1212/WNL.0b013e3181f88173. Neurology. 2010. PMID: 20956791

10

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

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