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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: castro d. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Bryen SJ, Ewans LJ, Pinner J, MacLennan SC, Donkervoort S, Castro D, Töpf A, O'Grady G, Cummings B, Chao KR, Weisburd B, Francioli L, Faiz F, Bournazos AM, Hu Y, Grosmann C, Malicki DM, Doyle H, Witting N, Vissing J, Claeys KG, Urankar K, Beleza-Meireles A, Baptista J, Ellard S, Savarese M, Johari M, Vihola A, Udd B, Majumdar A, Straub V, Bönnemann CG, MacArthur DG, Davis MR, Cooper ST. Bryen SJ, et al. Among authors: castro d. Hum Mutat. 2020 Feb;41(2):403-411. doi: 10.1002/humu.23938. Epub 2019 Dec 3. Hum Mutat. 2020. PMID: 31660661 Free PMC article.
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: castro d. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. Ann Neurol. 2018. PMID: 29691892 Free PMC article.
Safety and efficacy of nusinersen in spinal muscular atrophy: The EMBRACE study.
Acsadi G, Crawford TO, Müller-Felber W, Shieh PB, Richardson R, Natarajan N, Castro D, Ramirez-Schrempp D, Gambino G, Sun P, Farwell W. Acsadi G, et al. Among authors: castro d. Muscle Nerve. 2021 May;63(5):668-677. doi: 10.1002/mus.27187. Epub 2021 Feb 16. Muscle Nerve. 2021. PMID: 33501671 Free PMC article. Clinical Trial.
Spinal muscular atrophy: therapeutic strategies.
Castro D, Iannaccone ST. Castro D, et al. Curr Treat Options Neurol. 2014 Nov;16(11):316. doi: 10.1007/s11940-014-0316-3. Curr Treat Options Neurol. 2014. PMID: 25245431
A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement.
Rebelo AP, Cortese A, Abraham A, Eshed-Eisenbach Y, Shner G, Vainshtein A, Buglo E, Camarena V, Gaidosh G, Shiekhattar R, Abreu L, Courel S, Burns DK, Bai Y, Bacon C, Feely SME, Castro D, Peles E, Reilly MM, Shy ME, Zuchner S. Rebelo AP, et al. Among authors: castro d. Brain. 2021 May 7;144(4):1197-1213. doi: 10.1093/brain/awab019. Brain. 2021. PMID: 33889941 Free PMC article.
Juvenile myasthenia gravis: a twenty-year experience.
Castro D, Derisavifard S, Anderson M, Greene M, Iannaccone S. Castro D, et al. J Clin Neuromuscul Dis. 2013 Mar;14(3):95-102. doi: 10.1097/CND.0b013e318253a48e. J Clin Neuromuscul Dis. 2013. PMID: 23492460
Congenital muscular dystrophies and congenital myopathies.
Iannaccone ST, Castro D. Iannaccone ST, et al. Among authors: castro d. Continuum (Minneap Minn). 2013 Dec;19(6 Muscle Disease):1509-34. doi: 10.1212/01.CON.0000440658.03557.f1. Continuum (Minneap Minn). 2013. PMID: 24305446 Free PMC article. Review.
Congenital myopathies and muscular dystrophies.
Gilbreath HR, Castro D, Iannaccone ST. Gilbreath HR, et al. Among authors: castro d. Neurol Clin. 2014 Aug;32(3):689-703, viii. doi: 10.1016/j.ncl.2014.04.006. Neurol Clin. 2014. PMID: 25037085 Review.
Atypical Presentation for Friedreich Ataxia in a Child.
Caron E, Burns D, Castro D, Iannaccone ST. Caron E, et al. Among authors: castro d. J Clin Neuromuscul Dis. 2015 Sep;17(1):13-7. doi: 10.1097/CND.0000000000000086. J Clin Neuromuscul Dis. 2015. PMID: 26301374
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