Research
Neuroscience

Neurogenetics Research Unit

Scientific publications

  • Martins, S, Yahia, A, Costa, IPD, Siddig, HE, Abubaker, R, Koko, M, Corral-Juan, M, Matilla-Duenas, A, Brice, A, Durr, A, Leguern, E, Ranum, LPW, Amorim, A, Elsayed, LEO, Stevanin, G and Sequeiros, J.

    Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage

    Human Genetics 142(12): 1747-1754

    [doi:10.1007/s00439-023-02611-8]

  • Corral-Juan, M, Casquero, P, Giraldo-Restrepo, N, Laurie, S, Martinez-Pineiro, A, Mateo-Montero, RC, Ispierto, L, Vilas, D, Tolosa, E, Volpini, V, Alvarez-Ramo, R, Sanchez, I and Matilla-Duenas, A.

    New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

    Brain Communications 4(2):

    [doi:10.1093/braincomms/fcac030]

  • Delgado-Alvarado, M, Matilla-Duenas, A, Altadill-Bermejo, A, Setien, S, Misiego-Peral, M, Sanchez-de la Torre, JR, Corral-Juan, M and Riancho, J.

    A novelSGCEvariant is associated with myoclonus-dystonia with phenotypic variability

    Neurological Sciences 41(12): 3779-3781

    [doi:10.1007/s10072-020-04718-6]

  • Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J and Matilla-Dueñas A.

    POLR3A-related spastic ataxia: new mutations and a look into the phenotype.

    Journal of Neurology 267(2): 324-330

    [doi:10.1007/s00415-019-09574-9]

  • Beaudin, M, Matilla-Duenas, A, Soong, BW, Pedroso, JL, Barsottini, OG, Mitoma, H, Tsuji, S, Schmahmann, JD, Manto, M, Rouleau, GA, Klein, C and Dupre, N.

    The Classification of Autosomal Recessive Cerebellar Ataxias: a Consensus Statement from the Society for Research on the Cerebellum and Ataxias Task Force

    Cerebellum 18(6): 1098-1125

    [doi:10.1007/s12311-019-01052-2]

  • Nieto, A, Perez-Flores, J, Corral-Juan, M, Matilla-Duenas, A, Martinez-Burgallo, F and Monton, F.

    Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene

    Neurocase 25(5): 195-201

    [doi:10.1080/13554794.2019.1655064]

  • Dominguez-Ruiz, M, Garcia-Martinez, A, Corral-Juan, M, Perez-Alvarez, AI, Plasencia, AM, Villamar, M, Moreno-Pelayo, MA, Matilla-Duenas, A, Menendez-Gonzalez, M and del Castillo, I.

    Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

    Journal of Translational Medicine 17(1): 290-290

    [doi:10.1186/s12967-019-2041-x]

  • Loren, V, Garcia-Jaraquemada, A, Naves, JE, Carmona, X, Manosa, M, Aransay, AM, Lavin, JL, Sanchez, I, Cabre, E, Manye, J and Domenech, E.

    ANP32E, a Protein Involved in Steroid-Refractoriness in Ulcerative Colitis, Identified by a Systems Biology Approach

    JOURNAL OF CROHNS & COLITIS 13(3): 351-361

    [doi:10.1093/ecco-jcc/jjy171]