La Piana R - Search Results

1

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation.

La Piana R, Vanderver A, van der Knaap M, Roux L, Tampieri D, Brais B, Bernard G. La Piana R, et al. Arch Neurol. 2012 Jun;69(6):765-68. doi: 10.1001/archneurol.2011.1942. Arch Neurol. 2012. PMID: 22312164 Free PMC article.

2

Speech Reorganization after an AVM Bleed Cured by Embolization. A Case Report and Review of the Literature.

La Piana R, Klein D, Cortes M, Tampieri D. La Piana R, et al. Interv Neuroradiol. 2009 Dec;15(4):456-61. doi: 10.1177/159101990901500415. Epub 2009 Dec 28. Interv Neuroradiol. 2009. PMID: 20465886 Free PMC article.

3

Brain reorganization after endovascular treatment in a patient with a large arteriovenous malformation: the role of diagnostic and functional neuroimaging techniques.

La Piana R, Bourassa-Blanchette S, Klein D, Mok K, Del Pilar Cortes Nino M, Tampieri D. La Piana R, et al. Interv Neuroradiol. 2013 Sep;19(3):329-38. doi: 10.1177/159101991301900310. Epub 2013 Sep 26. Interv Neuroradiol. 2013. PMID: 24070082 Free PMC article.

4

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies.

La Piana R, Tonduti D, Gordish Dressman H, Schmidt JL, Murnick J, Brais B, Bernard G, Vanderver A. La Piana R, et al. J Child Neurol. 2014 Feb;29(2):214-20. doi: 10.1177/0883073813503902. Epub 2013 Oct 7. J Child Neurol. 2014. PMID: 24105487

5

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.

La Piana R, Webber A, Guiot MC, Del Pilar Cortes M, Brais B. La Piana R, et al. Neurogenetics. 2014 Oct;15(4):289-94. doi: 10.1007/s10048-014-0413-1. Epub 2014 Jul 12. Neurogenetics. 2014. PMID: 25012610

6

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Wolf NI, et al. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. Neurology. 2014. PMID: 25339210 Free PMC article.

7

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.

La Piana R, Tran LT, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G. La Piana R, et al. Neuropediatrics. 2014 Dec;45(6):406-10. doi: 10.1055/s-0034-1393710. Epub 2014 Oct 24. Neuropediatrics. 2014. PMID: 25343331

8

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.

La Piana R, Vanasse M, Brais B, Bernard G. La Piana R, et al. J Child Neurol. 2015 Sep;30(10):1371-4. doi: 10.1177/0883073814555189. Epub 2014 Nov 7. J Child Neurol. 2015. PMID: 25380603

9

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, La Piana R, Uggetti C, Wang J, Gordisch-Dressman H, van der Knaap MS, Livingston JH. Vanderver A, et al. Among authors: la piana r. J Child Neurol. 2015 Sep;30(10):1343-8. doi: 10.1177/0883073814562252. Epub 2014 Dec 22. J Child Neurol. 2015. PMID: 25535058 Free PMC article.

10

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.

Choquet K, La Piana R, Brais B. Choquet K, et al. Among authors: la piana r. Neurogenetics. 2015 Jul;16(3):233-6. doi: 10.1007/s10048-014-0436-7. Epub 2015 Jan 8. Neurogenetics. 2015. PMID: 25566820

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