Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.

    Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

    JOURNAL OF CLINICAL INVESTIGATION . 135(19): .

    [doi:10.1172/JCI193107]

  • Nolasco-Tovar GA, Roldan-Molina M, Jamshidi Y, Georvasilis I, Rodríguez RJ, Boostani R, Shoeibi A, Armengol L, Codina-Bergadà A, Karimiani EG, Hernando-Davalillo C, Martorell-Sampol L, Ramírez Almaraz ML, Muchart-Lopez J, Ortez-Gonzalez CI, Nascimento-Osorio A, Urreizti R, Natera-de Benito D and Serrano M.

    Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics

    Annals of Clinical and Translational Neurology . : .

    [doi:10.1002/acn3.70206]

  • Ji L, Yan J, Losurdo NA, Wang H, Liu L, Li K, Liu Z, Guo Z, Xu J, Bibo A, Ren D, Yang K, Luo Y, Yang F, Wang G, Xiang Z, Wang Y, Zhan H, Pan H, Hu J, Zhong J, Abou Jamra R, Zacher P, Musante L, Faletra F, Costa P, Zanus C, Couque N, Ruaud L, Cueto-González AM, San Nicolas Fernández H, Tizzano E, Martínez Gil N, Liu X, Liao W, Abi Farraj L, Huang AY, Zhang L, Murali A, Schmuel E, Han CS, King K, Gu W, Wang P, Li K, Link N, He G, Bian S and Mao X.

    Mutations in spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly.

    JOURNAL OF CLINICAL INVESTIGATION . 135(18): .

    [doi:10.1172/JCI186119]

  • Yépez VA, Demidov G, Ellwanger K, Laurie S, Luknárová R, Joseph Maran MI, Hentrich T, Sagath L, van der Sanden B, Astuti G, Neveling K, Batlle-Masó L, Beijer D, Brechtmann F, Caballero-Oteyza A, Dabad M, Denommé-Pichon AS, Doornbos C, Eddafir Z, Estévez-Arias B, Kilicarslan OA, Kolen IHM, Kraß L, Lohmann K, Londhe S, López-Martín E, Maassen K, Macken W, Martínez-Delgado B, Mei D, Mertes C, Minardi R, Morsy H, Mueller JS, Natera-de Benito D, Nelson I, Oud MM, Paramonov I, Picó D, Piscia D, Polavarapu K, Raineri E, Savarese M, Smal N, Steehouwer M, Steyaert W, Swertz MA, Thomsen M, Töpf A, Van de Vondel L, van der Vries G, Vitobello A, Wilke C, Zurek B, T' Hoen PB, Matalonga L, Vissers LELM, Gilissen C, Schulze-Hentrich J, Beltran S, Esteve-Codina A, Hoischen A, Gagneur J and Graessner H.

    The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

    NATURE GENETICS . : .

    [doi:10.1038/s41588-025-02290-3]

  • Foley, AR, Bolduc, V, Guirguis, F, Donkervoort, S, Hu, Y, Orbach, R, McCarty, RM, Sarathy, A, Norato, G, Cummings, BB, Lek, M, Sarkozy, A, Butterfield, RJ, Kirschner, J, Nascimento-Osorio A, Natera-de Benito D, Quijano-Roy, S, Stojkovic, T, Merlini, L, Comi, G, Ryan, M, McDonald, D, Munot, P, Yoon, G, Leung, E, Finanger, E, Leach, ME, Collins, J, Tian, CX, Mohassel, P, Neuhaus, SB, Saade, D, Cocanougher, BT, Chu, ML, Scavina, M, Grosmann, C, Richardson, R, Kossak, BD, Gospe, SM, Bhise, V, Taurina, G, Lace, B, Troncoso, M, Shohat, M, Shalata, A, Chan, SHS, Jokela, M, Palmio, J, Haliloglu, G, Jou-Munoz C, Gartioux, C, Solomon-Degefa, H, Freiburg, CD, Schiavinato, A, Zhou, HY, Aguti, S, Nevo, Y, Nishino, I, Jimenez-Mallebrera C, Lamande, SR, Allamand, V, Gualandi, F, Ferlini, A, MacArthur, DG, Wilton, SD, Wagener, R, Bertini, E, Muntoni, F and Bönnemann, CG.

    Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

    BRAIN . 148(9): 3215-3227. Nº de citas: 1

    [doi:10.1093/brain/awaf116]

  • Frías M, Badosa-Gallego MC, Jimenez-Mallebrera C, Porta JM and Roldan-Molina M.

    The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy.

    Computers in biology and medicine . 196(Pt A): 110610-110610.

    [doi:10.1016/j.compbiomed.2025.110610]

  • Tizzano E, Lindner G, Chilcott E, Finkel RS and Yáñez-Muñoz RJ.

    In utero therapy for spinal muscular atrophy: closer to clinical translation

    BRAIN . 148(9): 3043-3056. Nº de citas: 2

    [doi:10.1093/brain/awaf123]

  • Gunasekaran M, Littel HR, Wells NM, Turner J, Campos G, Venigalla S, Estrella EA, Ghosh PS, Daugherty AL, Stafki SA, Kunkel LM, Foley AR, Donkervoort S, Bönnemann CG, Toledo-Bravo de Laguna L, Nascimento-Osorio A, Natera-de Benito D, Draper I, Bruels CC, Pacak CA and Kang PB.

    Effects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development

    FEBS JOURNAL . 292(18): 4854-4869. Nº de citas: 1

    [doi:10.1111/febs.17406]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78005]

  • Pérez-Vidarte F, Estévez-Arias B, Matalonga L, Yubero-Siles D, Codina-Bergadà A, Ortez-Gonzalez CI, Medina J, De Sena-De Cabo L, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Tizzano E, Nascimento-Osorio A and Natera-de Benito D.

    Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

    Annals of Clinical and Translational Neurology . 12(8): 1528-1547.

    [doi:10.1002/acn3.70088]