Pina AL - Search Results

1

Mutational analysis and clinical correlation in Leber congenital amaurosis.

Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Among authors: pina al. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546

2

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. Silva E, et al. Among authors: pina al. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

3

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, Koenekoop RK. Tucker CL, et al. Among authors: pina al. Mol Vis. 2004 Apr 20;10:297-303. Mol Vis. 2004. PMID: 15123990 Free article.

4

Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.

Koenekoop R, Pina AL, Loyer M, Davidson J, Robitaille J, Maumenee I, Tombran-Tink J. Koenekoop R, et al. Among authors: pina al. Mol Vis. 1999 Jul 2;5:10. Mol Vis. 1999. PMID: 10398730 Free article.

5

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

Piña AL, Baumert U, Loyer M, Koenekoop RK. Piña AL, et al. Mol Vis. 2004 Apr 8;10:265-71. Mol Vis. 2004. PMID: 15094710 Free article.

6

Expression of pigment-epithelium-derived factor during kidney development and aging.

Pina AL, Kubitza M, Brawanski A, Tombran-Tink J, Kloth S. Pina AL, et al. Cell Tissue Res. 2007 Aug;329(2):329-38. doi: 10.1007/s00441-007-0420-8. Epub 2007 May 12. Cell Tissue Res. 2007. PMID: 17497179

7

Effects of pigment epithelium-derived factor on traumatic brain injury.

Terzi MY, Casalis P, Lang V, Zille M, Bründl E, Störr EM, Brawanski A, Vajkoczy P, Thomale U, Piña AL. Terzi MY, et al. Among authors: pina al. Restor Neurol Neurosci. 2015;33(1):81-93. doi: 10.3233/RNN-140417. Restor Neurol Neurosci. 2015. PMID: 25420903

8

The vertebrate homologue of sulfide-quinone reductase in mammalian mitochondria.

Ackermann M, Kubitza M, Hauska G, Piña AL. Ackermann M, et al. Among authors: pina al. Cell Tissue Res. 2014 Dec;358(3):779-92. doi: 10.1007/s00441-014-1983-9. Epub 2014 Aug 19. Cell Tissue Res. 2014. PMID: 25130143

9

Protein expression of pigment-epithelium-derived factor in rat cochlea.

Gleich O, Piña AL. Gleich O, et al. Among authors: pina al. Cell Tissue Res. 2008 Jun;332(3):565-71. doi: 10.1007/s00441-008-0608-6. Epub 2008 Apr 17. Cell Tissue Res. 2008. PMID: 18418629

10

The vertebrate homolog of sulfide-quinone reductase is expressed in mitochondria of neuronal tissues.

Ackermann M, Kubitza M, Maier K, Brawanski A, Hauska G, Piña AL. Ackermann M, et al. Among authors: pina al. Neuroscience. 2011 Dec 29;199:1-12. doi: 10.1016/j.neuroscience.2011.10.044. Epub 2011 Oct 29. Neuroscience. 2011. PMID: 22067608

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