Palenzuela L - Search Results

1

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R. Melià MJ, et al. Among authors: palenzuela l. Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29. Brain. 2013. PMID: 23543484 Free PMC article.

2

Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation.

Gamez J, Navarro C, Andreu AL, Fernandez JM, Palenzuela L, Tejeira S, Fernandez-Hojas R, Schwartz S, Karadimas C, DiMauro S, Hirano M, Cervera C. Gamez J, et al. Among authors: palenzuela l. Neurology. 2001 Feb 27;56(4):450-4. doi: 10.1212/wnl.56.4.450. Neurology. 2001. PMID: 11222786

3

A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

Palenzuela L, Andreu AL, Gàmez J, Vilà MR, Kunimatsu T, Meseguer A, Cervera C, Fernandez Cadenas I, van der Ven PF, Nygaard TG, Bonilla E, Hirano M. Palenzuela L, et al. Neurology. 2003 Aug 12;61(3):404-6. doi: 10.1212/01.wnl.0000073984.46546.4f. Neurology. 2003. PMID: 12913210

4

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R. Torres-Torronteras J, et al. Among authors: palenzuela l. Gene Ther. 2011 Aug;18(8):795-806. doi: 10.1038/gt.2011.24. Epub 2011 Mar 31. Gene Ther. 2011. PMID: 21451581 Free PMC article.

5

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.

Palenzuela L, Vives-Bauza C, Fernández-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL. Palenzuela L, et al. J Med Genet. 2002 Oct;39(10):E67. doi: 10.1136/jmg.39.10.e67. J Med Genet. 2002. PMID: 12362049 Free PMC article. No abstract available.

6

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.

Karadimas CL, Vu TH, Holve SA, Chronopoulou P, Quinzii C, Johnsen SD, Kurth J, Eggers E, Palenzuela L, Tanji K, Bonilla E, De Vivo DC, DiMauro S, Hirano M. Karadimas CL, et al. Among authors: palenzuela l. Am J Hum Genet. 2006 Sep;79(3):544-8. doi: 10.1086/506913. Epub 2006 Jun 28. Am J Hum Genet. 2006. PMID: 16909392 Free PMC article.

7

Human mitochondrial pyrophosphatase: cDNA cloning and analysis of the gene in patients with mtDNA depletion syndromes.

Curbo S, Lagier-Tourenne C, Carrozzo R, Palenzuela L, Lucioli S, Hirano M, Santorelli F, Arenas J, Karlsson A, Johansson M. Curbo S, et al. Among authors: palenzuela l. Genomics. 2006 Mar;87(3):410-6. doi: 10.1016/j.ygeno.2005.09.017. Epub 2005 Nov 21. Genomics. 2006. PMID: 16300924 Free article.

8

Gene expression profiling of brain cortex microvessels may support brain vasodilation in acute liver failure rat models.

Palenzuela L, Oria M, Romero-Giménez J, Garcia-Lezana T, Chavarria L, Cordoba J. Palenzuela L, et al. Metab Brain Dis. 2016 Dec;31(6):1405-1417. doi: 10.1007/s11011-016-9863-5. Epub 2016 Jul 12. Metab Brain Dis. 2016. PMID: 27406245

9

A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome.

Palenzuela L, Callís L, Vilalta R, Vila A, Nieto JL, Meseguer A. Palenzuela L, et al. Nephron. 2002 Apr;90(4):455-9. doi: 10.1159/000054734. Nephron. 2002. PMID: 11961405

10

Novel cell lines derived from adult human ventricular cardiomyocytes.

Davidson MM, Nesti C, Palenzuela L, Walker WF, Hernandez E, Protas L, Hirano M, Isaac ND. Davidson MM, et al. Among authors: palenzuela l. J Mol Cell Cardiol. 2005 Jul;39(1):133-47. doi: 10.1016/j.yjmcc.2005.03.003. J Mol Cell Cardiol. 2005. PMID: 15913645

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