Investigación

Investigación aplicada en enfermedades neuromusculares

Buscador de publicaciones

Publicaciones

  • Martinez-Monseny T, Edo A, Casas-Alba D, Izquierdo-Serra M, Bolasell M, Conejo D, Martorell-Sampol L, Muchart-Lopez J, Carrera-García L, Ortez-Gonzalez CI, Nascimento-Osorio A, Oliva B, Fernández-Fernández JM and Serrano M.

    CACNA1A Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(10): 5180. Nº de citas: 8

    [doi:10.3390/ijms22105180]

  • López-Marquez A, Carrasco-López C, Fernández-Méndez C and Santisteban P.

    Unraveling the Complex Interplay Between Transcription Factors and Signaling Molecules in Thyroid Differentiation and Function, From Embryos to Adults

    Frontiers in Endocrinology . 12: 654569-654569. Nº de citas: 24

    [doi:10.3389/fendo.2021.654569]

  • Ben Yaou R, Yun P, Dabaj I, Norato G, Donkervoort S, Xiong H, Nascimento-Osorio A, Maggi L, Sarkozy A, Monges S, Bertoli M, Komaki H, Mayer M, Mercuri E, Zanoteli E, Castiglioni C, Marini-Bettolo C, D'Amico A, Deconinck N, Desguerre I, Erazo-Torricelli R, Gurgel-Giannetti J, Ishiyama A, Kleinsteuber KS, Lagrue E, Laugel V, Mercier S, Messina S, Politano L, Ryan MM, Sabouraud P, Schara U, Siciliano G, Vercelli L, Voit T, Yoon G, Alvarez R, Muntoni F, Pierson TM, Gómez-Andrés D, Reghan Foley A, Quijano-Roy S, Bönnemann CG and Bonne G.

    International retrospective natural history study of LMNA-related congenital muscular dystrophy

    brain communications . 3(3): . Nº de citas: 22

    [doi:10.1093/braincomms/fcab075]

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Nº de citas: 11

    [doi:10.3390/ijms22084274]

  • Esteve-Solé A, Anton-Lopez J, Pino-Ramirez RM, Sánchez-Manubens J, Fumadó V, Fortuny-Guasch C, Rios-Barnés M, Sanchez deToledo J, Girona M, Mosquera-Angarita JM, Ricart S, Launes-Montana C, Fernández de Sevilla-Estrach M, Jou-Munoz C, Munoz-Almagro C, González-Roca E, Vergara A, Carrillo J, Juan-Otero M, Cuadras-Palleja D, Noguera-Julian A, Jordán-García I and Alsina L.

    Similarities and differences between the immunopathogenesis of COVID-19-related pediatric multisystem inflammatory syndrome and Kawasaki disease

    JOURNAL OF CLINICAL INVESTIGATION . 131(6): 1-28. Nº de citas: 90

    [doi:10.1172/JCI144554]

  • Natera-de Benito D, Foley AR, Domínguez-González C, Ortez-Gonzalez CI, Jain M, Mebrahtu A, Donkervoort S, Hu Y, Fink M, Yun P, Ogata T, Medina J, Vigo-Morancho M, Meilleur KG, Leach ME, Dastgir J, Díaz-Manera J, Carrera-García L, Exposito-Escudero JM, Macarena Maria Alejandra Alarcón Cornejo, Cuadras-Palleja D, Montiel-Morillo E, Milisenda JC, Dominguez-Rubio R, Olivé M, Colomer J, Jou-Munoz C, Jimenez-Mallebrera C, Bönnemann CG and Nascimento-Osorio A.

    Association of Initial Maximal Motor Ability With Long-term Functional Outcome in Patients With COL6-Related Dystrophies

    Neurology . 96(10): 1413-1424. Nº de citas: 14

    [doi:10.1212/WNL.0000000000011499]

  • Carrera-García L, Muchart-Lopez J, Lazaro JJ, Exposito-Escudero JM, Cuadras-Palleja D, Medina J, Bosch de Basea M, Colomer J, Jimenez-Mallebrera C, Ortez-Gonzalez CI, Natera-de Benito D and Nascimento-Osorio A.

    Pediatric SMA patients with complex spinal anatomy: Implementation and evaluation of a decision-tree algorithm for administration of nusinersen

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 31: 92-101. Nº de citas: 14

    [doi:10.1016/j.ejpn.2021.02.009]

  • de Fuenmayor-Fernández de la Hoz CP, Morís G, Jimenez-Mallebrera C, Badosa-Gallego MC, Hernández-Laín A, Blázquez Encinar A, Martín MÁ and Domínguez-González C.

    Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

    Molecular genetics and metabolism reports . 26: 100701-100701. Nº de citas: 6

    [doi:10.1016/j.ymgmr.2020.100701]

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.

    The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

    PEDIATRIC NEUROLOGY . 115: 50-65. Nº de citas: 15

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.

    An international classification of inherited metabolic disorders (ICIMD)

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 193

    [doi:10.1002/jimd.12348]