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Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.
Cook LJ, Ho LW, Wang L, Terrenoire E, Brayne C, Evans JG, Xuereb J, Cairns NJ, Turic D, Hollingworth P, Moore PJ, Jehu L, Archer N, Walter S, Foy C, Edmondson A, Powell J, Lovestone S, Williams J, Rubinsztein DC. Cook LJ, et al. Among authors: edmondson a. Am J Med Genet B Neuropsychiatr Genet. 2005 Jan 5;132B(1):5-8. doi: 10.1002/ajmg.b.30068. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 15690550
Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease.
Cook LJ, Ho LW, Taylor AE, Brayne C, Evans JG, Xuereb J, Cairns NJ, Pritchard A, Lemmon H, Mann D, St Clair D, Turic D, Hollingworth P, Moore PJ, Jehu L, Archer N, Walter S, Foy C, Edmondson A, Powell J, Lovestone S, Owen MJ, Williams J, Lendon C, Rubinsztein DC. Cook LJ, et al. Among authors: edmondson a. Neurosci Lett. 2004 Mar 25;358(2):142-6. doi: 10.1016/j.neulet.2004.01.016. Neurosci Lett. 2004. PMID: 15026168
Coagulation abnormalities and vascular complications are common in PGM1-CDG.
Radenkovic S, Bleukx S, Engelhardt N, Eklund E, Mercimek-Andrews S, Edmondson AC, Morava E. Radenkovic S, et al. Among authors: edmondson ac. Mol Genet Metab. 2024 Aug;142(4):108530. doi: 10.1016/j.ymgme.2024.108530. Epub 2024 Jul 2. Mol Genet Metab. 2024. PMID: 38968673 Free article.
Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Lam C, Scaglia F, Berry GT, Larson A, Sarafoglou K, Andersson HC, Sklirou E, Tan QKG, Starosta RT, Sadek M, Wolfe L, Horikoshi S, Ali M, Barone R, Campbell T, Chang IJ, Coles K, Cook E, Eklund EA, Engelhardt NM, Freeman M, Friedman J, Fu DYT, Botzo G, Rawls B, Hernandez C, Johnsen C, Keller K, Kramer S, Kuschel B, Leshinski A, Martinez-Duncker I, Mazza GL, Mercimek-Andrews S, Miller BS, Muthusamy K, Neira J, Patterson MC, Pogorelc N, Powers LN, Ramey E, Reinhart M, Squire A, Thies J, Vockley J, Vreugdenhil H, Witters P, Youbi M, Zeighami A, Zemet R, Edmondson AC, Morava E. Lam C, et al. Among authors: edmondson ac. Mol Genet Metab. 2024 Aug;142(4):108509. doi: 10.1016/j.ymgme.2024.108509. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38959600
Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.
Zemet R, Hope KD, Edmondson AC, Shah R, Patino M, Yesso AM, Berger JH, Sarafoglou K, Larson A, Lam C, Morava E, Scaglia F. Zemet R, et al. Among authors: edmondson ac. Mol Genet Metab. 2024 Aug;142(4):108513. doi: 10.1016/j.ymgme.2024.108513. Epub 2024 Jun 13. Mol Genet Metab. 2024. PMID: 38917675 Free PMC article.
158 results