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Page 1
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: bryson richardson rj. Brain. 2024 Nov 12:awae371. doi: 10.1093/brain/awae371. Online ahead of print. Brain. 2024. PMID: 39531736
CRIMP: a CRISPR/Cas9 insertional mutagenesis protocol and toolkit.
Miles LB, Calcinotto V, Oveissi S, Serrano RJ, Sonntag C, Mulia O, Lee C, Bryson-Richardson RJ. Miles LB, et al. Among authors: bryson richardson rj. Nat Commun. 2024 Jun 12;15(1):5011. doi: 10.1038/s41467-024-49341-7. Nat Commun. 2024. PMID: 38866742 Free PMC article.
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
Donkervoort S, van de Locht M, Ronchi D, Reunert J, McLean CA, Zaki M, Orbach R, de Winter JM, Conijn S, Hoomoedt D, Neto OLA, Magri F, Viaene AN, Foley AR, Gorokhova S, Bolduc V, Hu Y, Acquaye N, Napoli L, Park JH, Immadisetty K, Miles LB, Essawi M, McModie S, Ferreira LF, Zanotti S, Neuhaus SB, Medne L, ElBagoury N, Johnson KR, Zhang Y, Laing NG, Davis MR, Bryson-Richardson RJ, Hwee DT, Hartman JJ, Malik FI, Kekenes-Huskey PM, Comi GP, Sharaf-Eldin W, Marquardt T, Ravenscroft G, Bönnemann CG, Ottenheijm CAC. Donkervoort S, et al. Among authors: bryson richardson rj. Sci Transl Med. 2024 Apr 3;16(741):eadg2841. doi: 10.1126/scitranslmed.adg2841. Epub 2024 Apr 3. Sci Transl Med. 2024. PMID: 38569017 Free article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: bryson richardson rj. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
Novel preclinical model for CDKL5 deficiency disorder.
Serrano RJ, Lee C, Douek AM, Kaslin J, Bryson-Richardson RJ, Sztal TE. Serrano RJ, et al. Among authors: bryson richardson rj. Dis Model Mech. 2022 Mar 1;15(3):dmm049094. doi: 10.1242/dmm.049094. Epub 2022 Mar 8. Dis Model Mech. 2022. PMID: 34913468 Free PMC article.
60 results