Research

Applied research in neuromuscular diseases

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Publications

  • Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.

    Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

    PEDIATRIC NEUROLOGY . 157: 5-13.

    [doi:10.1016/j.pediatrneurol.2024.04.027]

  • de Lemus, Mencia, Cattinari, Maria G., Pascual, Samuel I., Medina J, Garcia, Mar, Magallon, Ana, Dumont, Maria and Rebollo, Pablo.

    Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study

    Journal of Patient-Reported Outcomes . 8(1): .

    [doi:10.1186/s41687-024-00758-0]

  • Crawford TO, Day JW, De Vivo DC, Krueger JM, Mercuri E, Nascimento-Osorio A, Pasternak A, Mazzone ES, Duong T, Song G, Marantz JL, Baver S, Yu D, Liu L and Darras BT.

    Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study

    FRONTIERS IN NEUROLOGY . 15: 1419791-1419791. Number of citations: 1

    [doi:10.3389/fneur.2024.1419791]

  • Fernandez-Simon, Esther, Pinol-Jurado, Patricia, Gokul-Nath, Rasya, Unsworth, Adrienne, Alonso-Perez, Jorge, Schiava, Marianela, Nascimento-Osorio A, Tasca, Giorgio, Queen, Rachel, Cox, Dan, Suarez-Calvet, Xavier and Diaz-Manera, Jordi.

    Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy

    Frontiers in Cell and Developmental Biology . 12: .

    [doi:10.3389/fcell.2024.1399319]

  • Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.

    New variants expand the neurological phenotype of COQ7 deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:10.1002/jimd.12776]

  • Candela-Cantó SA, Hinojosa J, Muchart-Lopez J, Jou-Munoz C, Palau, L, Carlos Valera Dávila, Flores, C, Palacio-Navarro A, Climent MA, Pascual, A, González, A, Culebras, D, Alamar AM, Becerra, V, Aparicio J and Rumiá, J.

    Temporo-Parieto-Occipital Disconnection by Robot-Assisted Magnetic Resonance Imaging-Guided Laser Interstitial Thermal Therapy for Refractory Epilepsy in a Pediatric Patient: Proof-of-Principle Case Report and Surgical Nuances

    WORLD NEUROSURGERY . 187: 124-132.

    [doi:10.1016/j.wnEu.2024.04.064]

  • Cao X, Lake M, Van der Hoeven G, Claes Z, Del Pino García J, Lemaire S, Greiner EC, Karamanou S, Van Eynde A, Kettenbach AN, Natera-de Benito D, Carrera-García L, Hernando-Davalillo C, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R and Bollen M.

    SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

    NATURE COMMUNICATIONS . 15(1): 5359-5359. Number of citations: 2

    [doi:10.1038/s41467-024-49746-4]

  • Barbera, Anna Revert, Martorell, Loreto, Boix Lluch C, Armstrong-Moron J, Carrera, Laura, Nascimento-Osorio A and Ortigoza-Escobar JD.

    Clinical Response of Levodopa in CTNNB1 -Related Dystonia

    Journal of Pediatric Neurology . : .

    [doi:10.1055/s-0044-1787194]

  • Armijo JA, Fernandez-Garcia, MA, Camacho, A, Liz, M, Ortez-Gonzalez CI, Lafuente-Hidalgo, M, Laguna, LTBD, Estévez-Arias B, Carrera-García L, Exposito-Escudero JM, Domínguez-Carral J, Nascimento-Osorio A and Natera-de Benito D.

    Epilepsy in Duchenne and Becker muscular dystrophies.

    Annals of Clinical and Translational Neurology . 11(6): 1456-1464.

    [doi:10.1002/acn3.52058]

  • Villafuerte, B, Carrasco-López, C, Herranz, A, Garzón, L, Simón, R, Natera-de Benito D, Alikhani, P, Tenorio, J, Garcia-Santiago, F, Solis, M, del-Pozo, A, Lapunzina, P, Ortigoza-Escobar JD, Santisteban, P and Moreno, JC.

    A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

    THYROID . : .

    [doi:10.1089/thy.2023.0593]