Nichols M - Search Results

1

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium. Orsini JJ, et al. Among authors: nichols m. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590 Free article.

2

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA. Saavedra-Matiz CA, et al. Among authors: nichols m. J Neurosci Res. 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905. J Neurosci Res. 2016. PMID: 27638593

3

Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.

Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M. Nichols MJ, et al. Am J Med Genet A. 2008 Mar 1;146A(5):610-9. doi: 10.1002/ajmg.a.32192. Am J Med Genet A. 2008. PMID: 18241067

4

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Beltran-Quintero ML, Bascou NA, Poe MD, Wenger DA, Saavedra-Matiz CA, Nichols MJ, Escolar ML. Beltran-Quintero ML, et al. Orphanet J Rare Dis. 2019 Feb 18;14(1):46. doi: 10.1186/s13023-019-1018-4. Orphanet J Rare Dis. 2019. PMID: 30777126 Free PMC article.

5

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.

Arnold GL, Saavedra-Matiz CA, Galvin-Parton PA, Erbe R, Devincentis E, Kronn D, Mofidi S, Wasserstein M, Pellegrino JE, Levy PA, Adams DJ, Nichols M, Caggana M. Arnold GL, et al. Among authors: nichols m. Mol Genet Metab. 2010 Mar;99(3):263-8. doi: 10.1016/j.ymgme.2009.10.188. Epub 2009 Nov 1. Mol Genet Metab. 2010. PMID: 20036593

6

Cost-effective and scalable DNA extraction method from dried blood spots.

Saavedra-Matiz CA, Isabelle JT, Biski CK, Duva SJ, Sweeney ML, Parker AL, Young AJ, Diantonio LL, Krein LM, Nichols MJ, Caggana M. Saavedra-Matiz CA, et al. Among authors: nichols mj. Clin Chem. 2013 Jul;59(7):1045-51. doi: 10.1373/clinchem.2012.198945. Epub 2013 Mar 18. Clin Chem. 2013. PMID: 23509109

7

Analysis of age-related changes in psychosine metabolism in the human brain.

Marshall MS, Jakubauskas B, Bogue W, Stoskute M, Hauck Z, Rue E, Nichols M, DiAntonio LL, van Breemen RB, Kordower JH, Saavedra-Matiz CA, Bongarzone ER. Marshall MS, et al. Among authors: nichols m. PLoS One. 2018 Feb 26;13(2):e0193438. doi: 10.1371/journal.pone.0193438. eCollection 2018. PLoS One. 2018. PMID: 29481565 Free PMC article.

8

Synergistic neuroprotection by epicatechin and quercetin: Activation of convergent mitochondrial signaling pathways.

Nichols M, Zhang J, Polster BM, Elustondo PA, Thirumaran A, Pavlov EV, Robertson GS. Nichols M, et al. Neuroscience. 2015 Nov 12;308:75-94. doi: 10.1016/j.neuroscience.2015.09.012. Epub 2015 Sep 10. Neuroscience. 2015. PMID: 26363153

9

Mitochondrial Ca²⁺ uptake pathways.

Elustondo PA, Nichols M, Robertson GS, Pavlov EV. Elustondo PA, et al. Among authors: nichols m. J Bioenerg Biomembr. 2017 Feb;49(1):113-119. doi: 10.1007/s10863-016-9676-6. Epub 2016 Sep 24. J Bioenerg Biomembr. 2017. PMID: 27665468 Review.

10

Global ablation of the mitochondrial calcium uniporter increases glycolysis in cortical neurons subjected to energetic stressors.

Nichols M, Elustondo PA, Warford J, Thirumaran A, Pavlov EV, Robertson GS. Nichols M, et al. J Cereb Blood Flow Metab. 2017 Aug;37(8):3027-3041. doi: 10.1177/0271678X16682250. Epub 2016 Jan 1. J Cereb Blood Flow Metab. 2017. PMID: 27909264 Free PMC article.

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