Eymard-Pierre E - Search Results

1

Fatal infantile leukodystrophy: a severe variant of CACH/VWM syndrome, allelic to chromosome 3q27.

Francalanci P, Eymard-Pierre E, Dionisi-Vici C, Boldrini R, Piemonte F, Virgili R, Fariello G, Bosman C, Santorelli FM, Boespflug-Tanguy O, Bertini E. Francalanci P, et al. Neurology. 2001 Jul 24;57(2):265-70. doi: 10.1212/wnl.57.2.265. Neurology. 2001. PMID: 11468311

2

Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts.

Patrono C, Di Giacinto G, Eymard-Pierre E, Santorelli FM, Rodriguez D, De Stefano N, Federico A, Gatti R, Benigno V, Megarbané A, Tabarki B, Boespflug-Tanguy O, Bertini E. Patrono C, et al. Neurology. 2003 Aug 26;61(4):534-7. doi: 10.1212/01.wnl.0000076184.21183.ca. Neurology. 2003. PMID: 12939431

3

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R. Fogli A, et al. Ann Neurol. 2002 Oct;52(4):506-10. doi: 10.1002/ana.10339. Ann Neurol. 2002. PMID: 12325082

4

Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.

Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E. Sferra A, et al. Among authors: eymard pierre e. Brain. 2021 Nov 29;144(10):3020-3035. doi: 10.1093/brain/awab185. Brain. 2021. PMID: 33964137 Free article.

5

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

Lesca G, Eymard-Pierre E, Santorelli FM, Cusmai R, Di Capua M, Valente EM, Attia-Sobol J, Plauchu H, Leuzzi V, Ponzone A, Boespflug-Tanguy O, Bertini E. Lesca G, et al. Neurology. 2003 Feb 25;60(4):674-82. doi: 10.1212/01.wnl.0000048207.28790.25. Neurology. 2003. PMID: 12601111

6

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O. Fogli A, et al. Neurology. 2004 May 11;62(9):1509-17. doi: 10.1212/01.wnl.0000123259.67815.db. Neurology. 2004. PMID: 15136673

7

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts: functional studies of novel variants in MLC1.

Montagna G, Teijido O, Eymard-Pierre E, Muraki K, Cohen B, Loizzo A, Grosso P, Tedeschi G, Palacín M, Boespflug-Tanguy O, Bertini E, Santorelli FM, Estévez R. Montagna G, et al. Hum Mutat. 2006 Mar;27(3):292. doi: 10.1002/humu.9407. Hum Mutat. 2006. PMID: 16470554

8

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.

Labauge P, Dorboz I, Eymard-Pierre E, Dereeper O, Boespflug-Tanguy O. Labauge P, et al. J Neurol. 2011 Feb;258(2):335-7. doi: 10.1007/s00415-010-5755-5. Epub 2010 Sep 29. J Neurol. 2011. PMID: 20878420 No abstract available.

9

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.

Eymard-Pierre E, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O. Eymard-Pierre E, et al. Am J Hum Genet. 2002 Sep;71(3):518-27. doi: 10.1086/342359. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145748 Free PMC article.

10

Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 gene.

Brugman F, Eymard-Pierre E, van den Berg LH, Wokke JH, Gauthier-Barichard F, Boespflug-Tanguy O. Brugman F, et al. Neurology. 2007 Aug 14;69(7):702-4. doi: 10.1212/01.wnl.0000267322.48364.76. Neurology. 2007. PMID: 17698795 No abstract available.

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