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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; Genomic England Research Consortium; Vandrovcova J, Houlden H, Debant A, Koenig M. Benkirane M, et al. Among authors: verheijen j. Brain. 2024 Jun 17:awae193. doi: 10.1093/brain/awae193. Online ahead of print. Brain. 2024. PMID: 38884572
Safety and efficacy of the cystic fibrosis transmembrane conductance regulator potentiator icenticaftor (QBW251).
Kazani S, Rowlands DJ, Bottoli I, Milojevic J, Alcantara J, Jones I, Kulmatycki K, Machineni S, Mostovy L, Nicholls I, Nick JA, Rowe SM, Simmonds NJ, Vegesna R, Verheijen J, Danahay H, Gosling M, Ayalavajjala PS, Salman M, Strieter R. Kazani S, et al. Among authors: verheijen j. J Cyst Fibros. 2021 Mar;20(2):250-256. doi: 10.1016/j.jcf.2020.11.002. Epub 2020 Dec 6. J Cyst Fibros. 2021. PMID: 33293212 Free PMC article.
Discovery of an Orally Available Diazabicyclooctane Inhibitor (ETX0282) of Class A, C, and D Serine β-Lactamases.
Durand-Réville TF, Comita-Prevoir J, Zhang J, Wu X, May-Dracka TL, Romero JAC, Wu F, Chen A, Shapiro AB, Carter NM, McLeod SM, Giacobbe RA, Verheijen JC, Lahiri SD, Sacco MD, Chen Y, O'Donnell JP, Miller AA, Mueller JP, Tommasi RA. Durand-Réville TF, et al. Among authors: verheijen jc. J Med Chem. 2020 Nov 12;63(21):12511-12525. doi: 10.1021/acs.jmedchem.0c00579. Epub 2020 Jul 24. J Med Chem. 2020. PMID: 32658473 Free PMC article.
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.
166 results