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Page 1
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O'Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Oates EC, et al. Among authors: kaur s. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.
O'Grady GL, Best HA, Oates EC, Kaur S, Charlton A, Brammah S, Punetha J, Kesari A, North KN, Ilkovski B, Hoffman EP, Clarke NF. O'Grady GL, et al. Among authors: kaur s. Eur J Hum Genet. 2015 Jun;23(6):883-6. doi: 10.1038/ejhg.2014.169. Epub 2014 Sep 3. Eur J Hum Genet. 2015. PMID: 25182138 Free PMC article.
Response.
Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF. Menezes MP, et al. Among authors: kaur s. Neuromuscul Disord. 2015 Apr;25(4):360. doi: 10.1016/j.nmd.2014.12.008. Epub 2014 Dec 29. Neuromuscul Disord. 2015. PMID: 25617004 No abstract available.
Expanding the phenotype of GMPPB mutations.
Cabrera-Serrano M, Ghaoui R, Ravenscroft G, Johnsen RD, Davis MR, Corbett A, Reddel S, Sue CM, Liang C, Waddell LB, Kaur S, Lek M, North KN, MacArthur DG, Lamont PJ, Clarke NF, Laing NG. Cabrera-Serrano M, et al. Among authors: kaur s. Brain. 2015 Apr;138(Pt 4):836-44. doi: 10.1093/brain/awv013. Epub 2015 Feb 12. Brain. 2015. PMID: 25681410
Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL, Lek M, Lamande SR, Waddell L, Oates EC, Punetha J, Ghaoui R, Sandaradura SA, Best H, Kaur S, Davis M, Laing NG, Muntoni F, Hoffman E, MacArthur DG, Clarke NF, Cooper S, North K. O'Grady GL, et al. Among authors: kaur s. Ann Neurol. 2016 Jul;80(1):101-11. doi: 10.1002/ana.24687. Epub 2016 May 25. Ann Neurol. 2016. PMID: 27159402
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Rinaldi B, Bayat A, Zachariassen LG, Sun JH, Ge YH, Zhao D, Bonde K, Madsen LH, Awad IAA, Bagiran D, Sbeih A, Shah SM, El-Sayed S, Lyngby SM, Pedersen MG, Stenum-Berg C, Walker LC, Krey I, Delahaye-Duriez A, Emrick LT, Sully K, Murali CN, Burrage LC, Plaud Gonzalez JA, Parnes M, Friedman J, Isidor B, Lefranc J, Redon S, Heron D, Mignot C, Keren B, Fradin M, Dubourg C, Mercier S, Besnard T, Cogne B, Deb W, Rivier C, Milani D, Bedeschi MF, Di Napoli C, Grilli F, Marchisio P, Koudijs S, Veenma D, Argilli E, Lynch SA, Au PYB, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Patron Romero L, Li WL, Thorpe E, Hecher L, Johannsen J, Denecke J, McNiven V, Szuto A, Wakeling E, Cruz V, Sency V, Wang H, Piard J, Kortüm F, Herget T, Bierhals T, Condell A, Ben-Zeev B, Kaur S, Christodoulou J, Piton A, Zweier C, Kraus C, Micalizzi A, Trivisano M, Specchio N, Lesca G, Møller RS, Tümer Z, Musgaard M, Gerard B, Lemke JR, Shi YS, Kristensen AS. Rinaldi B, et al. Among authors: kaur s. Brain. 2024 May 3;147(5):1837-1855. doi: 10.1093/brain/awad403. Brain. 2024. PMID: 38038360 Free article.
3,715 results