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Page 1
Defining a new immune deficiency syndrome: MAN2B2-CDG.
Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Verheijen J, et al. J Allergy Clin Immunol. 2020 Mar;145(3):1008-1011. doi: 10.1016/j.jaci.2019.11.016. Epub 2019 Nov 24. J Allergy Clin Immunol. 2020. PMID: 31775018 Free PMC article.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquière B. Radenkovic S, et al. Among authors: verheijen j. Am J Hum Genet. 2019 May 2;104(5):835-846. doi: 10.1016/j.ajhg.2019.03.003. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982613 Free PMC article.
MicroRNA-326 acts as a molecular switch in the regulation of midbrain urocortin 1 expression.
Aschrafi A, Verheijen JM, Gordebeke PM, Olde Loohuis NF, Menting K, Jager A, Palkovits M, Geenen B, Kos A, Martens GJ, Glennon JC, Kaplan BB, Gaszner B, Kozicz T. Aschrafi A, et al. Among authors: verheijen jm. J Psychiatry Neurosci. 2016 Aug;41(5):342-53. doi: 10.1503/jpn.150154. J Psychiatry Neurosci. 2016. PMID: 27045550 Free PMC article.
Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study.
Figueiral M, Paldino A, Wilke MVMB, Farris JD, Verheijen J, Giudicessi JR, Ackerman MJ, Olson JE, Arroyo J, Olson RJ, Klee EW, Pereira NL. Figueiral M, et al. Among authors: verheijen j. Mayo Clin Proc. 2024 Nov;99(11):1732-1743. doi: 10.1016/j.mayocp.2024.05.027. Epub 2024 Oct 10. Mayo Clin Proc. 2024. PMID: 39387793
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.
Benkirane M, Bonhomme M, Morsy H, Safgren SL, Marelli C, Chaussenot A, Smedley D, Cipriani V, de Sainte-Agathe JM, Ding C, Larrieu L, Vestito L, Margot H, Lesca G, Ramond F, Castrioto A, Baux D, Verheijen J, Sansa E, Giunti P, Haetty A, Bergougnoux A, Pointaux M, Ardouin O, Van Goethem C, Vincent MC, Hadjivassiliou M, Cossée M, Rouaud T, Bartsch O, Freeman WD, Wierenga KJ, Klee EW, Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: verheijen j. Brain. 2024 Nov 4;147(11):3681-3689. doi: 10.1093/brain/awae193. Brain. 2024. PMID: 38884572
168 results