• 859 Citations
  • 12 h-Index
20132020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

  • 859 Citations
  • 12 h-Index
  • 18 Article
  • 3 Review article
  • 1 Chapter
  • 1 Editorial

Atypical Presentation for Friedreich Ataxia in a Child

Caron, E., Burns, D., Castro, D. & Iannaccone, S. T., Sep 8 2015, In : Journal of Clinical Neuromuscular Disease. 17, 1, p. 13-17 5 p.

Research output: Contribution to journalArticle

4 Scopus citations

Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study

The NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators, Feb 1 2016, In : Annals of Clinical and Translational Neurology. 3, 2, p. 132-145 14 p.

Research output: Contribution to journalArticle

54 Scopus citations

Case 1: Apnea and hypotonia in a i-month-old infant

Hoge, M., Thomas, J. M., Hanners, N. W., Castro, D. P. & Ali, N., Oct 2019, In : NeoReviews. 20, 10, p. e592-e593

Research output: Contribution to journalEditorial

Characterization of pulmonary function in 10–18 year old patients with Duchenne muscular dystrophy

the DELOS Study Group, Apr 1 2017, In : Neuromuscular Disorders. 27, 4, p. 307-314 8 p.

Research output: Contribution to journalArticle

19 Scopus citations

Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Stokes, M., Varughese, N., Iannaccone, S. & Castro, D., Jan 1 2019, (Accepted/In press) In : Muscle and Nerve.

Research output: Contribution to journalArticle

2 Scopus citations

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect

Wang, J., Kim, E., Dai, H., Stefans, V., Vogel, H., Al Jasmi, F., Schrier Vergano, S. A., Castro, D., Bernes, S., Bhambhani, V., Long, C., El-Hattab, A. W. & Wong, L. J., Jun 1 2018, In : Molecular Genetics and Metabolism. 124, 2, p. 124-130 7 p.

Research output: Contribution to journalArticle

9 Scopus citations

Congenital muscular dystrophies and congenital myopathies

Iannaccone, S. T. & Castro, D., Dec 1 2013, In : CONTINUUM Lifelong Learning in Neurology. 19, 6, p. 1509-1534 26 p.

Research output: Contribution to journalReview article

12 Scopus citations

Congenital myopathies and muscular dystrophies

Gilbreath, H. R., Castro, D. & Iannaccone, S. T., Aug 2014, In : Neurologic Clinics. 32, 3, p. 689-703 15 p.

Research output: Contribution to journalReview article

17 Scopus citations

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Oates, E. C., Jones, K. J., Donkervoort, S., Charlton, A., Brammah, S., Smith, J. E., Ware, J. S., Yau, K. S., Swanson, L. C., Whiffin, N., Peduto, A. J., Bournazos, A., Waddell, L. B., Farrar, M. A., Sampaio, H. A., Teoh, H. L., Lamont, P. J., Mowat, D., Fitzsimons, R. B., Corbett, A. J. & 64 others, Ryan, M. M., O'Grady, G. L., Sandaradura, S. A., Ghaoui, R., Joshi, H., Marshall, J. L., Nolan, M. A., Kaur, S., Punetha, J., Töpf, A., Harris, E., Bakshi, M., Genetti, C. A., Marttila, M., Werlauff, U., Streichenberger, N., Pestronk, A., Mazanti, I., Pinner, J. R., Vuillerot, C., Grosmann, C., Camacho, A., Mohassel, P., Leach, M. E., Foley, A. R., Bharucha-Goebel, D., Collins, J., Connolly, A. M., Gilbreath, H. R., Iannaccone, S. T., Castro, D., Cummings, B. B., Webster, R. I., Lazaro, L., Vissing, J., Coppens, S., Deconinck, N., Luk, H. M., Thomas, N. H., Foulds, N. C., Illingworth, M. A., Ellard, S., McLean, C. A., Phadke, R., Ravenscroft, G., Witting, N., Hackman, P., Richard, I., Cooper, S. T., Kamsteeg, E. J., Hoffman, E. P., Bushby, K., Straub, V., Udd, B., Ferreiro, A., North, K. N., Clarke, N. F., Lek, M., Beggs, A. H., Bönnemann, C. G., MacArthur, D. G., Granzier, H., Davis, M. R. & Laing, N. G., Jun 2018, In : Annals of Neurology. 83, 6, p. 1105-1124 20 p.

Research output: Contribution to journalArticle

26 Scopus citations

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy

Meier, T., Voit, T., Schara, U., Straathof, C. S. M., D'Angelo, M. G., Bernert, G., Cuisset, J. M., Finkel, R. S., Goemans, N., Rummey, C., Leinonen, M., Spagnolo, P., Buyse, G. M., Bernert, G., Knipp, F., Buyse, G. M., Goemans, N., van den Hauwe, M., Voit, T., Doppler, V. & 35 others, Gidaro, T., Cuisset, J. M., Coopman, S., Schara, U., Lutz, S., Kirschner, J., Borell, S., Will, M., D'Angelo, M. G., Brighina, E., Gandossini, S., Gorni, K., Falcier, E., Politano, L., D'Ambrosio, P., Taglia, A., Verschuuren, J. J. G. M., Straathof, C. S. M., Vílchez Padilla, J. J., Muelas Gómez, N., Sejersen, T., Hovmöller, M., Jeannet, P. Y., Bloetzer, C., Iannaccone, S., Castro, D., Tennekoon, G., Finkel, R., Bönnemann, C., McDonald, C., Henricson, E., Joyce, N., McDonald, C. M., Apkon, S. & Richardson, R. C., Aug 1 2016, In : Neuromuscular Disorders. 26, 8, p. 473-480 8 p.

Research output: Contribution to journalArticle

29 Scopus citations

Juvenile myasthenia gravis: A twenty-year experience

Castro, D., Derisavifard, S., Anderson, M., Greene, M. & Iannaccone, S., Mar 1 2013, In : Journal of Clinical Neuromuscular Disease. 14, 3, p. 95-102 8 p.

Research output: Contribution to journalArticle

41 Scopus citations

Juvenile myasthenia gravis: From diagnosis to treatment

Castro, D., Jul 1 2015, Novel Challenges in Myasthenia Gravis. Nova Science Publishers, Inc., p. 207-221 15 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

3 Scopus citations

Natural history of infantile-onset spinal muscular atrophy

the NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators, Dec 2017, In : Annals of Neurology. 82, 6, p. 883-891 9 p.

Research output: Contribution to journalArticle

72 Scopus citations

Nusinersen versus sham control in infantile-onset spinal muscular atrophy

Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., Chiriboga, C. A., Saito, K., Servais, L., Tizzano, E., Topaloglu, H., Tulinius, M., Montes, J., Glanzman, A. M., Bishop, K., Zhong, Z. J., Gheuens, S., Bennett, C. F., Schneider, E., Farwell, W. & 378 others, De Vivo, D. C., Bradley, W. G., Schroth, M. K., Bodensteriner, J. B., Davis, C. S., Shell, R., Hen, J., Austin, E. D., Aziz-Zaman, S., Cappell, J., Constantinescu, A., Cruz, R., Dastgir, J., Dunaway, S., Engelstad, K., Gormley, M., Holuba La Marca, N., Khandji, A., Kramer, S., Marra, J., Ortiz-Miller, C., Popolizio, M., Salazar, R., Sanabria, L., Weimer, L., Anand, P., Gadeken, R., Golumbek, P. T., Siener, C., Zaidman, C. M., Al-Ghamdi, F., Berde, C., Ghosh, P., Graham, R., Harrington, T., Koka, A., Laine, R., Liew, W., Mirek, E., Ordonez, G., Pasternak, A., Quigley, J., Sethna, N., Souris, M., Szelag, H., Wand, L., Day, J. W., D'Souza, G., Duong, T. T., Gee, R., Kitsuwa-Lowe, J., McFall, D., Patnaik, S., Paulose, S., Perez, J., Proud, C., Purse, B., Ramamurthi, R. J., Sakamuri, S., Sampson, J., Sanjanwala, B., Tesi Rocha, A. C., Watson, K., Welsh, L., Pena, L. D. M., Case, L., Coates, J., DeArmey, S., Homi, M. M., Milleson, C., Nelson, N., Ross, A., Smith, E., Taicher, B., Wootton, J., Finanger, E., Benjamin, D., Frank, A., Roberts, C., Russman, B., Zilke, K., Berry, D., Civitello, M., Cook, D., Endsley, J. D., Johnson, C., Kasper, M., Leon, W., Lim, A., O'Reardon, K., Sigurdardottir, L. Y., Turner, J., Weber-Guzman, F., Zinn, M., Iannaccone, S. T., Castro, D., Cowie, M., Farrow-Gillespie, A., Herbert, A., Kauk, M., McElroy, D., Miller, N., Nelson, L., Smith, L., Spain, T., Trest, S., Johnson, N., Butterfield, R., DiBella, D., Mayne, K., Newcomb, T. M., Rausch, N., Blomgren, C., Choi, H. W., Epstein, L., Goldman, S., Krosschell, K., Krueger, J., Kurz, J., Rao, V., Parsons, J., Allen, V., Bielsky, A., Booker, K., Camuto, A., Carry, T., Fuhr, P., Gibbons, M., Janas, J., Johnson, H., Kelly, C., Lord-Halvorson, L. S., Nicolarsen, S., Shea, S., Tran, V., VanderVeen, G., Yang, M., Zimmerman, C., Shieh, P., Parziale, N., Rao, L., Said, J. W., Shu, F., Skura, C., Staudt, L., Tennekoon, G., Adang, L., Brandsema, J., Chadehumbe, M., Flickinger, J., Kichula, E., Stanford, D., Toms, M., Zigmont, J., Oskoui, M., Arpin, S., Dinunzio, P., Ingelmo, P. M., Poulin, C., Rivera, G., Sabapathy, C., Srour, M., Turgeon-Desilet, S., Zielinski, D., Selby, K., King, C., Lee, J., Michoulas, A., Roland, E., Vajsar, J., Chau, V., Dowling, J., Haldenby, R., Miki, M., So, S., Pascual Pascual, S. I., Martinez Bermejo, A., Epinosa Garcia, S., Garcia Guixot, S., Martinez Moreno, M. M., del Pilar Tirado Requero, M., del Mar Garcia Romero, M., Aguilar, C., Munell Casadesus, F., Gomez Garcia de la Banda, M. B., Gallardo, M., Gili, G., Alavarez Molinero, M., de Los Angeles Tormos Munoz, M., Palacios, N. J., Planas Pascual, B., del Mar Melendez Plumed, M., Rucian, A. F., Toro Tamargo, E., Gratacos Vinola, M., Borell, S., Eckenweiler, M., Krüger, M., Pechmann, A., Rippberger, B., Stein, S., Vogt, S., Wider, S., Schara, U., Andres, B., Della Marina, A., Ganfuss, A., Jachertz, P., Koelbel, H., Rupprich, K., Schroers, E. S., Sponemann, N., Bruno, C., Fiorillo, C., Garaventa, A., Lanteri, P., Lanzillotta, V., Manzitti, C., Pedermonte, M., Tacchetti, P., Trucco, F., Zuffi, A., De Sanctis, R., Fanelli, L., Luigetti, M., Palermo, C., Pane, M., Piastra, M., Sivo, S., Gargaun, E., Gidaro, T., Gilabert, S., Léger, P. L., Le Moing, A. G., Lilien, C., Mayer, M., Ollievier, Q., Rambaud, J., Taytard, J., Vialle, R., Voit, T., Muntoni, F., D'Argenzio, L., Lister, PH., Manzur, A., Pisco Domingos, J., Ramsey, D., Ricotti, V., Schottlaender, L., Scoto, M., Scuplak, S. M., Selby, V., Straub, V., Baily, S., Bertoli, M., Mayhew, A. G., Lofra, R. M., Murphy, A., Wood, C., Darin, N., Eldblom, J., Kimber, E., Kroksmark, A. K., Lindstedt, A., Michael, E., Sofou, K., Deconinck, N., Christiaens, A., Coppens, S., DeCock, K., De Vos voor, E., Dorban, F., Gilbert, G., Rooze, S., Tahon, V., Van Coster, R., Van Der Looven, R., Vanlander, A., Vens, D., Verhelst, H., Wenderickx, B., Wittevrongel, S., Farrar, M., Berthon-Jones, N., Doumit, M. A., Herbert, K. J., Kandula, T., Morrison, M., O'Brien, J., Richardson, S., Ferreira Sampaio, H. A., Teoh, H. L., Ryan, M., Carroll, K. M., De Valle, K. L., Villano, D., Woodcock, I., Yiu, E. M., Ardicli, D., Gunbey, C., Haliloglu, V. G., Karaduman, A. A., Konuskan, B., Yildiz Sarikaya, F. G., Serdaroglu, E., Tanyildiz, M., Temucin, C. M., Yildirim, M., Yilmaz, O. T., Arakawa, R., Chiba, Y., Eto, K., Hirasawa, K., Ikai, T., Ito, S., Ito, Y., Kaburagi, Y., Kaneko, H., Matsumaru, S., Matsushima, N., Mizuochi, K., Nagata, S., Nakatsukasa, H., Nishikawa, A., Otani, Y., Sato, T., Shichiji, M., Sugimoto, K., Takeshita, A., Yanagishita, T., Yamauchi, A., Takeshima, Y., Fujino, T., Fukuda, N., Lee, T., Oriyama, K., Shibano, T., Shimomura, H., Tachikawa, T., Tanaka, Y., Taniguchi, N., Chae, J. H., Choi, S. A., Chun, S. M., Jo, H., Kim, H., Kim, S. Y., Lee, J. S., Lim, B. C., Shin, H. I., Son, W. S., Chan, S., Chung, A. C., Yan, C. S., Stella, C., Joseph, C. K. W., Ng, C. S., Alvin, H. C. C., Janice, I. J. K., Wendy, L. W. M., Chui-San, M. N., Ki, N. Y., Shun, T. N., Connie, W. Y., Virginia, W. C., Yvonne, Y., Jong, Y. J., Chen, T. H., Chou, P. C., Chou, Y. H., Chung, H. W., Hsu, J. H., Ju, Y. H., Liang, W. C., Shih, H. H., Wang, H. Y., Wu, Y. C. & Zeng, Y. S., Nov 2 2017, In : New England Journal of Medicine. 377, 18, p. 1723-1732 10 p.

Research output: Contribution to journalArticle

501 Scopus citations

Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug

Conklin, L. S., Damsker, J. M., Hoffman, E. P., Jusko, W. J., Mavroudis, P. D., Schwartz, B. D., Mengle-Gaw, L. J., Smith, E. C., Mah, J. K., Guglieri, M., Nevo, Y., Kuntz, N., McDonald, C. M., Tulinius, M., Ryan, M. M., Webster, R., Castro, D., Finkel, R. S., Smith, A. L., Morgenroth, L. P. & 12 others, Arrieta, A., Shimony, M., Jaros, M., Shale, P., McCall, J. M., Hathout, Y., Nagaraju, K., van den Anker, J., Ward, L. M., Ahmet, A., Cornish, M. R. & Clemens, P. R., Oct 2018, In : Pharmacological Research. 136, p. 140-150 11 p.

Research output: Contribution to journalArticle

18 Scopus citations

Recruitment & retention program for the NeuroNEXT SMA Biomarker Study: Super Babies for SMA!

The NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators, Sep 2018, In : Contemporary Clinical Trials Communications. 11, p. 113-119 7 p.

Research output: Contribution to journalArticle

2 Scopus citations

Recurrent TTN metatranscript-only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy

Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J. & 15 others, Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R. & Cooper, S. T., Feb 1 2020, In : Human mutation. 41, 2, p. 403-411 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Response to treatment in pediatric ocular myasthenia gravis

Xu, L., Castro, D., Reisch, J. S. & Iannaccone, S. T., Feb 1 2020, In : Muscle and Nerve. 61, 2, p. 226-230 5 p.

Research output: Contribution to journalArticle

Spinal Muscular Atrophy: Therapeutic Strategies

Castro, D. & Iannaccone, S. T., Sep 28 2014, In : Current Treatment Options in Neurology. 16, 11, 316.

Research output: Contribution to journalReview article

20 Scopus citations

Spinal muscular atrophy care in the COVID-19 pandemic era

Veerapandiyan, A., Connolly, A. M., Finkel, R. S., Arya, K., Mathews, K. D., Smith, E. C., Castro, D., Butterfield, R. J., Parsons, J. A., Servais, L., Kuntz, N., Rao, V. K., Brandsema, J. F., Mercuri, E. & Ciafaloni, E., Jul 1 2020, In : Muscle and Nerve. 62, 1, p. 46-49 4 p.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy

for the DELOS Study Group, Apr 1 2017, In : Pediatric pulmonology. 52, 4, p. 508-515 8 p.

Research output: Contribution to journalArticle

15 Scopus citations

Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function

Hoffman, E. P., Schwartz, B. D., Mengle-Gaw, L. J., Smith, E. C., Castro, D., Mah, J. K., Mcdonald, C. M., Kuntz, N. L., Finkel, R. S., Guglieri, M., Bushby, K., Tulinius, M., Nevo, Y., Ryan, M. M., Webster, R., Smith, A. L., Morgenroth, L. P., Arrieta, A., Shimony, M., Siener, C. & 10 others, Jaros, M., Shale, P., Mccall, J. M., Nagaraju, K., Van Den Anker, J., Conklin, L. S., Cnaan, A., Gordish-Dressman, H., Damsker, J. M. & Clemens, P. R., Sep 24 2019, In : Neurology. 93, 13, p. E1312-E1323

Research output: Contribution to journalArticle

Open Access
9 Scopus citations