Investigación

Neurogenética y Medicina Molecular

Buscador de publicaciones

Publicaciones

  • Fernandez-Lizarbe S, Civera-Tregon A, Cantarero-Abad L, Herrer I, Juarez P, Hoenicka J and Palau F.

    Neuroinflammation in the pathogenesis of axonal Charcot-Marie-Tooth disease caused by lack of GDAP1

    EXPERIMENTAL NEUROLOGY . 320: 113004-113004. Nº de citas: 19

    [doi:10.1016/j.expneurol.2019.113004]

  • Martín-Doncel E, Rojas AM, Cantarero-Abad L and Lazo PA.

    VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes

    SCIENTIFIC REPORTS . 9: 13381-13381. Nº de citas: 15

    [doi:10.1038/s41598-019-49821-7]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de citas: 8

    [doi:10.1002/ajmg.a.61357]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

    SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de citas: 9

    [doi:10.1038/s41598-019-48385-w]

  • Vidal-Falcó S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi-Tarrau N, Pacheco-Fernández P, Xiol-Viñas C, Pineda M and Armstrong-Moron J.

    Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

    Molecular genetics & genomic medicine . 7(8): . Nº de citas: 5

    [doi:10.1002/mgg3.793]

  • Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Thropp EK, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny T, Blok LS, Gavrilova R and Fish JL.

    Mutation update for the SATB2 gene.

    HUMAN MUTATION . 40(8): 1013-1029. Nº de citas: 29

    [doi:10.1002/humu.23771]

  • 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]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Maynou-Fernández J, Fernandez-Isern G, Xiol C, Pascual-Alonso A, Pineda M and Armstrong-Moron J.

    The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(4): 609-620. Nº de citas: 22

    [doi:10.1016/j.ejpn.2019.04.006]

  • 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. Nº de citas: 12

    [doi:10.1002/ajmg.a.61122]

  • Billingsley KJ, Barbosa IA, Bandrés-Ciga S, Quinn JP, Bubb VJ, Deshpande C, Botia JA, Reynolds RH, Zhang D, Simpson MA, Blauwendraat C, Gan-Or Z, Gibbs JR, Nalls MA, Singleton A, Ryten M, Koks S and International Parkinson’s Disease Genomics Consortium (IPDGC).

    Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.

    npj Parkinsons Disease . 5: 8-8. Nº de citas: 75

    [doi:10.1038/s41531-019-0080-x]