La Piana R - Search Results

1

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S. La Piana R, et al. Am J Med Genet A. 2014 Mar;164A(3):815-9. doi: 10.1002/ajmg.a.36360. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24376015

2

Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy.

Orcesi S, Pessagno A, Biancheri R, La Piana R, Mascaretti M, Rossi A, Rice GI, Crow YJ, Fazzi E, Veneselli E. Orcesi S, et al. Among authors: la piana r. Eur J Paediatr Neurol. 2008 Sep;12(5):408-11. doi: 10.1016/j.ejpn.2007.10.005. Epub 2008 Feb 20. Eur J Paediatr Neurol. 2008. PMID: 18069026

3

Recovery of visual functions after early acquired occipital damage.

Bova SM, Giovenzana A, Signorini S, La Piana R, Uggetti C, Bianchi PE, Fazzi E. Bova SM, et al. Among authors: la piana r. Dev Med Child Neurol. 2008 Apr;50(4):311-5. doi: 10.1111/j.1469-8749.2008.02044.x. Epub 2008 Feb 28. Dev Med Child Neurol. 2008. PMID: 18312600 Free article.

4

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome.

Izzotti A, Fazzi E, Orcesi S, Cartiglia C, Longobardi M, Capra V, Lebon P, Cama A, Pulliero A, La Piana R, Lanzi G. Izzotti A, et al. Among authors: la piana r. Neurology. 2008 Aug 19;71(8):610-2. doi: 10.1212/01.wnl.0000313934.05965.71. Epub 2008 Jul 2. Neurology. 2008. PMID: 18596240 No abstract available.

5

Izzotti A, Pulliero A, Orcesi S, Cartiglia C, Longobardi MG, Capra V, Lebon P, Cama A, La Piana R, Lanzi G, Fazzi E. Izzotti A, et al. Among authors: la piana r. Brain Pathol. 2009 Oct;19(4):650-60. doi: 10.1111/j.1750-3639.2008.00229.x. Epub 2008 Oct 23. Brain Pathol. 2009. PMID: 19016741 Free PMC article.

6

Aicardi-Goutieres syndrome.

Orcesi S, La Piana R, Fazzi E. Orcesi S, et al. Among authors: la piana r. Br Med Bull. 2009;89:183-201. doi: 10.1093/bmb/ldn049. Epub 2009 Jan 7. Br Med Bull. 2009. PMID: 19129251 Review.

7

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up.

Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Uggetti C, et al. Among authors: la piana r. AJNR Am J Neuroradiol. 2009 Nov;30(10):1971-6. doi: 10.3174/ajnr.A1694. Epub 2009 Jul 23. AJNR Am J Neuroradiol. 2009. PMID: 19628626 Free PMC article.

8

Spinal cord calcification in an early-onset progressive leukoencephalopathy.

Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP, Del Bo R, Ronchi D, Bastianello S, Balottin U. Orcesi S, et al. Among authors: la piana r. J Child Neurol. 2011 Jul;26(7):876-80. doi: 10.1177/0883073810390038. Epub 2011 Mar 22. J Child Neurol. 2011. PMID: 21427441

9

The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.

Pulliero A, Fazzi E, Cartiglia C, Orcesi S, Balottin U, Uggetti C, La Piana R, Olivieri I, Galli J, Izzotti A. Pulliero A, et al. Among authors: la piana r. Mutat Res. 2011 Dec 1;717(1-2):99-108. doi: 10.1016/j.mrfmmm.2011.03.018. Epub 2011 Apr 15. Mutat Res. 2011. PMID: 21524657

10

COL4A1 mutations associated with a characteristic pattern of intracranial calcification.

Livingston J, Doherty D, Orcesi S, Tonduti D, Piechiecchio A, La Piana R, Tournier-Lasserve E, Majumdar A, Tomkins S, Rice G, Kneen R, van der Knaap M, Crow Y. Livingston J, et al. Among authors: la piana r. Neuropediatrics. 2011 Dec;42(6):227-33. doi: 10.1055/s-0031-1295493. Epub 2011 Dec 1. Neuropediatrics. 2011. PMID: 22134833

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