Research

Applied research in neuromuscular diseases

Search publications

Publications

  • 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. Number of citations: 14

    [doi:10.1016/j.nmd.2019.04.003]

  • Jumah MA, Muhaizea MA, Rumayyan AA, Saman AA, Shehri AA, Cupler E, Jan M, Madani AA, Fathalla W, Kashyape P, Kodavooru G, Thihli KA, Bastaki L, Megarbane A, Skrypnyk C, Zamani G, Tuffery-Giraud S, Urtizberea A and Ortez-Gonzalez CI.

    Current management of Duchenne muscular dystrophy in the Middle East: expert report.

    Neurodegenerative disease management . 9(3): 123-133. Number of citations: 15

    [doi:10.2217/nmt-2019-0002]

  • Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.

    CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Number of citations: 12

    [doi:10.1002/ajmg.a.61122]

  • Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, Fuiza-Luces C, García García J, Morís G, Olivé M, Miralles F, Díaz-Manera J, Caballero C, Méndez-Ferrer B, Martí R, García Arumi E, Badosa-Gallego MC, Esteban J, Jimenez-Mallebrera C, Encinar AB, Arenas J, Hirano M, Martin MÁ and Paradas C.

    Late-onset thymidine kinase 2 deficiency: a review of 18 cases

    ORPHANET JOURNAL OF RARE DISEASES . 14: 100-100. Number of citations: 31

    [doi:10.1186/s13023-019-1071-z]

  • Stanga D, Zhao Q, Milev MP, Saint-Dic D, Jimenez-Mallebrera C and Sacher M.

    TRAPPC11 functions in autophagy by recruiting ATG2B-WIPI4/WDR45 to preautophagosomal membranes

    Traffic . 20(5): 325-345. Number of citations: 46

    [doi:10.1111/tra.12640]

  • Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan-Gordo M, Ortez-Gonzalez CI, Nascimento-Osorio A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Munoz C, Muchart-Lopez J, Huisman TAGM, Poretti A, Lupo V, Espinós C and Pérez-Dueñas B.

    PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression

    PARKINSONISM & RELATED DISORDERS . 61: 179-186. Number of citations: 29

    [doi:10.1016/j.parkreldis.2018.10.013]

  • Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou-Munoz C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F and Bönnemann CG.

    A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies

    JCI Insight . 4(6): . Number of citations: 36

    [doi:10.1172/jci.insight.124403]

  • Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Nascimento-Osorio A, Villanova D, Kemaladewi DU, Cohn RD, Brudno M and Dowling JJ.

    Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

    AMERICAN JOURNAL OF HUMAN GENETICS . 104(3): 466-483. Number of citations: 152

    [doi:10.1016/j.ajhg.2019.01.012]

  • García-Rincón D, Díaz-Alonso J, Paraíso-Luna J, Ortega Z, Aguareles J, de Salas-Quiroga A, Jou-Munoz C, de Prada I, Martínez-Cerdeño V, Aronica E, Guzmán M, Pérez-Jiménez MÁ and Galve-Roperh I.

    Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia

    FRONTIERS IN PHARMACOLOGY . 9: 1508-1508. Number of citations: 9

    [doi:10.3389/fphar.2018.01508]

  • Ortez-Gonzalez CI, Natera-de Benito D, Carrera García L, Expósito J, Nolasco G and Nascimento-Osorio A.

    Advances in the treatment of Duchenne muscular dystrophy

    MEDICINA-BUENOS AIRES . 79: 77-81. Number of citations: 2