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  • Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero J, Jimenez-Mallebrera C, Jou-Munoz C, Codina-Bergadà A, Joan R. Corbera Torredeflò, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras-Palleja D, Medina J, Yoldi ME and Nascimento-Osorio A.

    Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome

    NEUROMUSCULAR DISORDERS . 30(9): 719-726. Nº de citas: 3

    [doi:10.1016/j.nmd.2020.07.009]

  • Trifunov S, Natera-de Benito D, Exposito Escudero JM, Ortez-Gonzalez CI, Medina J, Cuadras-Palleja D, Badosa C, Carrera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

    FRONTIERS IN NEUROLOGY . 11: 304-304. Nº de citas: 12

    [doi:10.3389/fneur.2020.00304]

  • Frongia AL, Natera-de Benito D, Ortez-Gonzalez CI, Alarcón M, Borrás A, Medina J, Vigo-Morancho M, Padrós N, Moya O, Armas J, Carrera-García L, Exposito-Escudero JM, Cuadras-Palleja D, Bernal S, Martorell-Sampol L, Colomer J and Nascimento-Osorio A.

    Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II

    NEUROMUSCULAR DISORDERS . 29(7): 517-524. Nº de citas: 11

    [doi:10.1016/j.nmd.2019.04.003]

  • Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer J, Ortez-Gonzalez CI, Nascimento-Osorio A, Febrer A, Medina J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe,, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L and Smith, E.

    The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy

    Neurology . 91(13): 1215-1219. Nº de citas: 8

    [doi:10.1212/WNL.0000000000006245]

  • Rodríguez-García MA, Del Rio-Baquero LM, Ortez-Gonzalez CI, Jou-Munoz C, Vigo-Morancho M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive-Valls M, González-Mera L, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

    FRONTIERS IN AGING NEUROSCIENCE . 9: 268-268. Nº de citas: 4

    [doi:10.3389/fnagi.2017.00268]

  • Llano-Diez M, Ortez CI, Gay JA, Alvarez-Cabado L, Jou-Munoz C, Medina J, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy

    NEUROMUSCULAR DISORDERS . 27(1): 15-23. Nº de citas: 23

    [doi:10.1016/j.nmd.2016.11.003]

  • Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM and PTC124-GD-007-DMD STUDY GROUP.

    ATALUREN TREATMENT OF PATIENTS WITH NONSENSE MUTATION DYSTROPHINOPATHY

    MUSCLE & NERVE . 50(4): 477-487. Nº de citas: 289

    [doi:10.1002/mus.24332]

  • Casano-Sancho P, Suárez L, Ibañez-Toda L, García-Fructuoso G, Medina J and Febrer A.

    Pituitary dysfunction after traumatic brain injury in children: is there a need for ongoing endocrine assessment?

    CLINICAL ENDOCRINOLOGY . 79(6): 853-858. Nº de citas: 21

    [doi:10.1111/cen.12237]

  • Febrer A, Vigo M, Rodriguez N, Medina J, Colomer J and Nascimento-Osorio A.

    Fractures in spinal muscular atrophy

    REVISTA DE NEUROLOGIA . 57(5): 207-211. Nº de citas: 6

    [doi:10.33588/rn.5705.2013174]

  • Aksu F, Topacoglu H, Arman C, Atac A, Tetik S, Hasanovic A, Kulenovic A, Mornjakovic Z, Pikula B, Sarac-Hadzihalilovic A, Voljevica A, Bamac B, Colak T, Alemdar M, Dundar G, Selekler M, Dincer O, Colak E, Ozbek A, Kilic C, Kamburoglu K, Ozen T, Kavak V, Kirici Y, Oztas E, Soysal HA, Unur E, Ekinci N, Karaca O, Malakhova O, Kocaoglu M, Toker S, Taser F, Kilincoglu V, Yurtgun MF, Dalcik C, Zeybek A, Baroncini M, Peltier J, Jissendi P, Pruvo JP, Francke JP, Prevot V, Kosif R, Arifoglu Y, Diramali M, Sarsilmaz M, Kose E, Ogeturk M, Akpinar B, Kus I, Meydan S, Kara A, Kurtoglu Z, Tekdemir I, Elhan A, Bas O, Odaci E, Mollaoglu H, Ucok K, Kaplan S, Senoglu M, Nacitarhan V, Kurutas EB, Senoglu N, Altun I, Atli Y, Ozbag D, Karakas S, Bilgin MD, Tellioglu AM, Ozlem S, Akcanal B, Yildiz Y, Gunes H, Kose H, Uzum I, Gundogmus UN, Caglayan C, Pavlova V, Dimitrova M, Georgieva L, Nikolova E, Uzmansel D, Ozturk NC, Saylam CY, Ozgiray E, Orhan M, Cagli S, Zileli M, Ozkan D, Akkaya T, Comert A, Balikci N, Ozdemir E, Gumus H, Ergul Z, Kaya O, Altun S, Unlu RE, Orbay H, Kim DI, Han SH, Kim YS, Kim HJ, Lee KS, Elcioglu O, Ozden H, Guven G, Imre N, Yalcin B, Ozan H, Akyer P, Guvencer M, Karatosun V, Sagoo MG, Aland RC, Ustuner D, Ustuner MC, Ai J, Ghazi SR, Mansouri SH, Tuncer MC, Aluclu MU, Karabulut O, Hatipoglu ES, Nazaroglu H, Icke C, Akbay E, Gunay T, Icke S, Yildiz S, Yazar F, Barlas BO, Zahoi DE, Kavakli A, Tas U, Dabak DO, Sapmaz HI, Kocabiyik N, Ozer CM, Ozcan A, Elevli L, Desdicioglu K, Alanbay I, Govsa F, Saylam CY, Akdogan I, Kiroglu Y, Onur S, Evcil EH, Cankara N, Malas MA, Kalcioglu MT, Duman S, Ulcay T, Uzun A, Karabulut Z, Barut C, Sevinc O, Yurdakan G, Kacar D, Erdogan AR, Kurt H, Demir B, Saltan M, Burukoglu D, Ustuner MC, Degirmenci I, Erdogan A, Damar O, Is M, Bayramoglu G, Kabay S, Uysal O, Senturk H, Bayramoglu A, Ozbayar C, Kutlu A, Canbek M, Cevli SC, Hancerlioglu O, Koplay M, Aksakalli E, Dikici F, Kale A, Gayretli O, Gurses IA, Ozdemir ST, Ercan I, Baskan EB, Yilmaz M, Ozkaya G, Saricaoglu H, Erturk M, Kayalioglu G, Uzel M, Kahraman G, Tanyeli E, Soyluoglu AI, Tacar O, Demirant A, Bilgin M, Karadede A, Aktas A, Evcil EH, Koyuncu E, Sulak O, Albay S, Ozguner G, Ozbek A, Ozbek E, Ozturk AH, Demirci T, Ciftcioglu E, Demir MT, Kopuz C, Eroglu E, Gedikli S, Ozyurek H, Nural MS, Incesu L, Ogur G, Kara E, Celebi B, Yildiz A, Altunkaynak BZ, Kuvat SV, Tagil SM, Ertekin C, Uysal H, Bademkiran F, Albayrak N, Esmer AF, Coskun NK, Sindel M, Kizilay F, Yalin S, Karapinar N, Tokdemir M, Karakurt L, Tumkaya L, Korkmaz A, Ayas B, Ciftci N, Terzi Y, Baran O, Nergiz Y, Akkus M, Aluclu U, Topal AE, Yuksel D, Acar HI, Kendir S, Hekimoglu E, Basman D, Duman S, Ozener B, Pelin C, Zagyapan R, Kurkcuoglu A, Koc M, Erdinc M, Erdinc L, Kelle I, Sancakdar E, Cetin N, Tunik S, Yildirim A, Kaplanoglu I, Ayaz E, Ilhan N, Okumus M, Yuksel KZ, Ciralik H, Yilmaz Z, Gumusalan Y, Gamsizkan M, Kazkayasi M, Unver Dogan N, Uysal II, Karalezli A, Fazliogullari Z, Buyukmumcu M, Bozkurt MC, Cicekcibasi AE, Demiryurek D, Ozsoy MH, Bayramoglu A, Tuccar E, Baran OP, Soker S, Bahceci S, Nasir Y, Yilmaz MT, Cicekcibasi EA, Ulusoy M, Gunaslan P, Bilge N, Akkaya M, Genc A, Akcer S, Gonul Y, Cosar E, Koken G, Ari I, Bakirci S, Kafa IM, Uysal M, Karabulut AK, Keles B, Emlik D, Uyar Y, Ozturk K, Yilmaz NA, Salbacak A, Kacira BK, Arazi M, Demirci S, Kiresi D, Gumus S, Seker M, Uyar M, Astaneh ME, Khorshid A, Uygur R, Songur A, Sonmez OF, Dogan KH, Kolcu G, Iliescu M, Bordei P, Iliescu D, Ciobotaru C, Lucescu V, Covaleov A, Ionescu C, Guirao M, Páramo E, Mutuberria R, Sánchez-Montesinos I, Roda O, Girón F, Lopez-Soler M, Roda O, Campos-López R, Guirao-Piñeiro M, Pascual-Morenilla MT, Sanchez-Montesinos I, Pascual MT, Garzon I, Serrato D, Nieto-Aguilar R, Sanchez-Montesinos I, Sanchez-Quevedo M, Ozdemir MB, Ozean RH, Bagdatli D, Adiguzel E, Dogan Z, Aycan O, Vardi N, Erkal HS, Ozturk H, Mocanu S, Stefanescu C, Ionescu A, Talpes R, Sapte E, Dina C, Surdu L, Bulbuc I, Medina MT, Medina J, López-Soler M, Martin-Oviedo C, Lowy-Benoliel A, Maranillo E, Martinez-Guirado T, Sañudo J, Scola B, Vazquez T, Arráez-Aybar LA, Conejo-Menor JL, Gonzáles-Gómez CC, Torres-García AJ, Nasu H, Chiba S, Gutierrez-Semillera M, Paksoy Y, Kalaycioglu A, Yildirim M, Ozyasar A, Ozdogmus O, Cakmak YO, Verimli U, Cavdar S, Yildizhan B, Aktan Ikiz ZA, Ucerler H, Ozgur Z, Yilmaz S, Demirtas A, Mavili E, Hacialiogullari M, Susar H, Arslan S, Aycan K, Ozkaya V, Pilmane M, Boka S, Ortug G, Ramirez C, Pascual-Font A, Valderrama-Canales F, Kucukalic A, Kapur E, Talovic E, Baca V, Grill R, Horak Z, Kachlik D, Dzupa V, Konarik M, Knize J, Veleminsky P, Smrzova T, Otcenasek M, Chmelova J, Kheck M, Kheck M, Cupka T, Hnatek L, van der Meijs F, Cech P, Musil V, Ozkan HM, Muratli SK, Tayefi H, Ergur I, Kiray A, Toktas M, Alkoc O, Acar T, Uzun I, Ozen OA, Aycicek A, Alkoc OA, Unlu M, Corumlu U, Ikiz IC, Oygucu IH, Sendemir E, Kaner T, Caglar V, Eser O, Demir MT, Iyigun O, Pirzirenli G, Kaya AH, Aydin ME, Celik F, True H, Ozkaya S, Ergur BU, Zeybek G, Bacakoglu K, Tadjalli M, Poostpasand A, Mansouiri SH, Allahvaisi O, Soleimanirad J, Nikkhoo B, Nagato Y, Haruki Y, Yazawa K, Okazaki T, Haida M, Imai Y, Peirouvi T, Mahzad-Sadaghiani M, Noroozinia F, Siamak S, Farjah G, Mola S, Biegaj E, Skadorwa T, Pawlewicz K, Kapolka R, Chachulska A, Zabicka J, Krasowska A, Prusik A, Jaczewski G, Kolesnik A, Taghavi MM, Alavi SH, Moallem SA, Safikhani Z, Panahi M, Dabiri S, Shekaari MA, Latorre R, Soria F, Lopez-Albors O, Sarria R, Ayala I, Serrano I, Perez-Cuadrado E, Musienko V, Tkachenko D, Colakoglu N, Kus MA, Jalali M, Nikravesh MR, Moeen AA, Karimfar MH, Rafighdoost H, Mohammadi S, Korneeva M, Rafighdoust H, Lovasova K, Bolekova A, Kluchova D, Sulla I, Kapitonova MY, Syed Ahmad Fuad SB, Jayakaran F, Shams AR, Aghaee F, Baqer Z, Faroki M, Das S, Kassim N, Latiff A, Suhaimi F, Ghafar N, Hlaing KP, Maatoq I, Othman F, Kiray M, Bagriyanik HA, Pekcetin C, Ozogul C, Fidan M, Suhaimi F, Sun F, Sanchez-Margallo F, Gil F, Crisostomo V, Uson J, Ramirez G, Turamanlar O, Kirpiko O, Haktanir A, Climent S, Losilla S, Climent M, Sarikcioglu L, Senol Y, Yildirim FB, Utuk A, Kunicki J, Pasbakhsh P, Omidi N, Omidi H, Nazhvani FD, Ghalebi SR, Javan N, Mohagery A, Bideskan AR, Taheri MM, Fazel AR, Tiengo C, Macchi V, Stecco C, Porzionato A, Mazzoleni F, De Caro R, Clemente A, Morra A, Greco P, Pavan P, Natali A, Demir M, Dokur M, Acer N, Mavi A, Matveeva N, Lazarova D, Korneti K, Jovevska S, Jurkovik D, Papazova M, Havasi M, Alboghobeish N, Savari A, Salamat N, Sharifi M, Kwak HH, Hu KS, Kim GC, Park BS, Kim HJ, Sinav A, Gulati AK, Gulati NK, Alshammary H, Nazhvani SD, Vafafar A, Esmaeilpour T, Bahmanpour S, Elyasi L, Monabbati A, Ghanadi M, Paryani MR, Gilanpour H, Amirsam B, Omaña RE, López SG, De la Garza Castro O, Vega EU, Lopez SG, Talebpour F, Golmohammadi R, Dashti G, Atlasi MA, Mehdizadeh M, Bahadori MH, Joghataei MT, Hatami L, Boroujeni MB, Estakhr J, Esfandiary E, Marzban M, Bakhtiary M, Modiry N, Jafarpur M, Mofidpur H, Alavi SH, Mahmoudian A, Taghavi MM, Jafarpour M, Mahmoudian AR, Sanjarmousavi N, Doassans I, Sorrenti N, Decuadro G, Saibene A, Poumayrac M, Laza S, Almiron C, Vergara ME, Soria V, Lasa S, Perez A, Castro G, Maria AS, Soleimani M, Katebi M, Bakhshayesh M, Oner M, Halici M, Yikilmaz A, Guney A, Turk Y, Edizer M, Beden U, Icten N, Afshar M, Hasanzadeh Taheri MM, Moalem A, Golalipour MJ, Tamizi A, Ahi M, Mohammadpour S, Maiery A, Acikel C, Ulkur E, Karagoz H, Celikoz B, Bedi K, Ginus P, Golalipoor MJ, Mohammadi MR, Jhand P, Mansourian AR, Hosseinpoor K, Keshtkar AA, Alsaffar R, Balajadeh BK, Ghafari S, Azarhosh R, Fazeli SA, Jahanshahi M, Gharravi AM, Alicioglu B, Karakas HM, Harma A, Yang HM, Won SY, Lee JG, Lee JY, Lee JY, Kim YR, Song WC, Koh KS, Hwang EN, Choi HG, Kim SH, Kim SY, Hur MS, Ulucam E, Celbis O, Kim DH, Hong HS, Kim HJ, Choi JH, Park JT, Kim HC, Abbasi H, Hosseinipanah SM, Hosseini M, Amani A, Ashrafi HR, Sadeghimehr M, Kim HJ, Sheverdin V, Amani Z, Ashrafi A, Ashrafi AR, Javad H, Kachap MJ, Laza S, Poumayrac MC, Doassans I, Vergara ME, Almirón C, Soria V, Rivara A, Sirilo A, Freire D, Cirillo A, Veragara ME, Krmek V, Krmek N, Jo-Osvatic A, Nikolic V, Radic R, Tubbs RS, Loukas M, Fogg Q, Ashwood N, Cilingiroglu S, Ozbakir C, Mazoochi T, Sabanciogullari V, Gumus C, Erdil FH, Cimen M, Moodi H, Ghiasi F, Akbari A, Hami J, Khazei M, Haghparast E, Mitsakis I, Anastasiou A, Mitsakis M, Sianou K, Hainoglou R, Francisco M, Mitsaki C, Konstantinidi M, Prapa S, Leksan I, Mrcela T, Selthofer R, Kermanian F, Mahmoudian A, Ahmadpoor ME, Dalili N, Elian AH, Moaiery A, Jamalpour Z, Nourani MR, Asgari A, Hassanzadeh Taheri MM, Ebrahimzadeh A, Eftekharvaghefi SH, Mohammadi A, Sheibani V, Nematollahi-Mahani SN, Latifpour M, Deilami M, Soroure-Azimzadeh B, Nabipour F, Najafipour H, Nakhaee N, Yaghoobi M, Eftekharvaghefi R, Salehinejad P, Azizi H, Riasi HR, Nobakht M, Asalgoo S, Rahbar R, Najafzadeh N, Moosavizadeh K, Ezzatabadypour M, Majidi M, Malekpor-Afshar R, Karimzade F, Hoseini M, Bayat M, Gorgi A, Nezhadi A, Bakhtiari M, Jazi HR, Jafaryan M, Haghir H, Hosseini M, Rahimi S, Rassouli FB, Gorji A, Habibi A, Pouya F, Dabiri S, Mousavi A, Rajabalian S, Abolidokht A, Khanlarkhani N, Naderian H, Berjis N, Namavar MR, Talaei T, Mazaheri Z, Monabati A, Kosar MI, Karacan K, Chegini H, Nikzad H, Ayhan E, Ustundag S, Akkin SM, Ogut T, Rayegan P, Meibodi MA, Ghaem RM, Zargarpoor R, Eftekhar Vaghefi SH, Moshkdanian G, Poya F, Kohestani H, Abarghoeai RR, Abarghoeai PR, Eftekhar Vaghefi SH, Mahmodi AA, Poraboli A, Kohestani HR, Vaghefi RE, Eftekhar Vaghefy SH, Vaghefy RE, Abarghoeai PR, Saba M, Gharravi AM, Javadnia F, Zhaleh M, Nezhad DB, Gholami MR, Piagkou M, Aikaterini VK, Piagkos G, Douvetzemis S, Skandalakis P, Anagnostopoulou S, Papadopoulos N, Celik HH, Tatar I, Tatar EC, Mocan BO, Sargon MF, Denk CC, Rasoolijazi H, Joghataie MT, Roghani M, Akkin SM, Dinc G, Kurklu M, Ozboluk S, Komurcu M, Koebke J, Balioglu MB, Kaygusuz MA, Bozkus FS, Korkmaz O, Bayram SB, Can MA, Nasiri E, Jafar-Kazemi K, Hosseini M, Maghoul S, Soleimani M, Amini A, Hassanzade MM, Davari MH, Van Hoof T, Gomes GT, Audenaert E, Verstraete K, Kerckaert I, D'Herde K, Benninger B, Hedley G, Filipoiu FM, Tarta E, Enyedi M, Pantu C, Stanciulescu R, Skobowiat C, Calka J, Majewski M, Rezaian M, Yaghoobfar A, Hamedi S and Shomali T.

    Poster presentations.

    SURG RADIOL ANAT . 31 Suppl 1: 95-229.

    [doi:10.1007/BF03371486]