Marie SKN - Search Results

1

Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SKN, Bönnemann CG, Chu ML. Zhang RZ, et al. Among authors: marie skn. J Biol Chem. 2010 Mar 26;285(13):10005-10015. doi: 10.1074/jbc.M109.093666. Epub 2010 Jan 27. J Biol Chem. 2010. PMID: 20106987 Free PMC article.

2

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML. Pan TC, et al. Am J Hum Genet. 2003 Aug;73(2):355-69. doi: 10.1086/377107. Epub 2003 Jul 1. Am J Hum Genet. 2003. PMID: 12840783 Free PMC article.

3

Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging.

Leite CC, Reed UC, Otaduy MC, Lacerda MT, Costa MO, Ferreira LG, Carvalho MS, Resende MB, Marie SK, Cerri GG. Leite CC, et al. Radiology. 2005 Apr;235(1):190-6. doi: 10.1148/radiol.2351031963. Epub 2005 Feb 9. Radiology. 2005. PMID: 15703311

4

Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI.

Leite CC, Lucato LT, Martin MG, Ferreira LG, Resende MB, Carvalho MS, Marie SK, Jinkins JR, Reed UC. Leite CC, et al. Pediatr Radiol. 2005 Jun;35(6):572-9. doi: 10.1007/s00247-004-1398-y. Epub 2005 Mar 5. Pediatr Radiol. 2005. PMID: 15750812

5

Liver-specific enhancer of the glucokinase gene.

Iynedjian PB, Marie S, Wang H, Gjinovci A, Nazaryan K. Iynedjian PB, et al. J Biol Chem. 1996 Nov 15;271(46):29113-20. doi: 10.1074/jbc.271.46.29113. J Biol Chem. 1996. PMID: 8910567 Free article.

6

Glucokinase and cytosolic phosphoenolpyruvate carboxykinase (GTP) in the human liver. Regulation of gene expression in cultured hepatocytes.

Iynedjian PB, Marie S, Gjinovci A, Genin B, Deng SP, Buhler L, Morel P, Mentha G. Iynedjian PB, et al. J Clin Invest. 1995 May;95(5):1966-73. doi: 10.1172/JCI117880. J Clin Invest. 1995. PMID: 7738162 Free PMC article.

7

The pyruvate kinase gene as a model for studies of glucose-dependent regulation of gene expression in the endocrine pancreatic beta-cell type.

Marie S, Diaz-Guerra MJ, Miquerol L, Kahn A, Iynedjian PB. Marie S, et al. J Biol Chem. 1993 Nov 15;268(32):23881-90. J Biol Chem. 1993. PMID: 8226928 Free article.

8

Low lactate dehydrogenase and high mitochondrial glycerol phosphate dehydrogenase in pancreatic beta-cells. Potential role in nutrient sensing.

Sekine N, Cirulli V, Regazzi R, Brown LJ, Gine E, Tamarit-Rodriguez J, Girotti M, Marie S, MacDonald MJ, Wollheim CB, et al. Sekine N, et al. J Biol Chem. 1994 Feb 18;269(7):4895-902. J Biol Chem. 1994. PMID: 8106462 Free article.

9

Impact on natural history of atypical meningioma after changes in 2016 edition of the world health organization (WHO) classification of central nervous system tumors: a literature review.

Pereira BJA, de Almeida AN, Paiva WS, Marie SKN. Pereira BJA, et al. Among authors: marie skn. Neurosurg Rev. 2024 Sep 28;47(1):704. doi: 10.1007/s10143-024-02881-4. Neurosurg Rev. 2024. PMID: 39340638 Review.

10

ST8Sia2 polysialyltransferase protects against infection by Trypanosoma cruzi.

Barboza BR, Macedo-da-Silva J, Silva LAMT, Gomes VM, Santos DM, Marques-Neto AM, Mule SN, Angeli CB, Borsoi J, Moraes CB, Moutinho-Melo C, Mühlenhoff M, Colli W, Marie SKN, Pereira LDV, Alves MJM, Palmisano G. Barboza BR, et al. Among authors: marie skn. PLoS Negl Trop Dis. 2024 Sep 25;18(9):e0012454. doi: 10.1371/journal.pntd.0012454. eCollection 2024 Sep. PLoS Negl Trop Dis. 2024. PMID: 39321148 Free PMC article.

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