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Neurogenètica i Medicina Molecular

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Publicacions

  • Alamar AM, Candela-Cantó SA, Flor-Goikoetxea A, Salvador-Hernandez H, Martinez-Monseny T, Muchart-Lopez J and Hinojosa J.

    Megalencephaly-capillary malformation syndrome and associated hydrocephalus: treatment options and revision of the literature

    CHILDS NERVOUS SYSTEM . 37(8): 2441-2449. Nº de cites: 1

    [doi:10.1007/s00381-021-05222-8]

  • Jurkute N, Bertacchi M, Arno G, Tocco C, Kim US, Kruszewski AM, Avery RA, Bedoukian EC, Han J, Ahn SJ, Pontikos N, Acheson J, Davagnanam I, Bowman R, Kaliakatsos M, Gardham A, Wakeling E, Oluonye N, Reddy MA, Clark E, Rosser E, Amati-Bonneau P, Charif M, Lenaers G, Meunier I, Defoort S, Vincent-Delorme C, Robson AG, Holder GE, Jeanjean L, Martinez-Monseny T, Vidal-Santacana M, Dominici C, Gaggioli C, Giordano N, Caleo M, Liu GT, Genomics England Research Consortium, Webster AR, Studer M and Yu-Wai-Man P.

    Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.

    brain communications . 3(3): . Nº de cites: 7

    [doi:10.1093/braincomms/fcab162]

  • Juárez-Escoto E, Cantarero-Abad L, Hoenicka J and Palau F.

    alpha-Synuclein deficiency or overexpression induces neuroinflammatory responses in mice

    FEBS Open Bio . 11: 471-472.

  • Leonard H, Lake J, Kim JJ, Gibbs JR, Ruskey JA, Pihlstrøm L, Eerola-Rautio J, Tienari PJ, Grosset DG, Wood N, Noyce AJ, Middlehurst B, Kia DA, Tan M, Houlden H, Storm CS, Morris HR, Plun-Favreau H, Holmans P, Hardy J, Trabzuni D, Quinn J, Bubb V, Mok KY, Kinghorn KJ, Wood NW, Lewis P, Schreglmann SR, Lovering R, R'Bibo L, Manzoni C, Rizig M, Ryten M, Guelfi S, Escott-Price V, Chelban V, Foltynie T, Williams N, Morrison KE, Clarke C, Harvey K, Jacobs BM, Brice A, Danjou F, Lesage S, Corvol JC, Martinez M, Schulte C, Brockmann K, Simón-Sánchez J, Heutink P, Rizzu P, Sharma M, Gasser T, Schneider SA, Cookson MR, Bandres-Ciga S, Blauwendraat C, Craig DW, Billingsley K, Makarious MB, Narendra DP, Faghri F, Gibbs JR, Hernandez DG, Van Keuren-Jensen K, Shulman JM, Iwaki H, Leonard HL, Nalls MA, Robak L, Bras J, Guerreiro R, Lubbe S, Troycoco T, Finkbeiner S, Mencacci NE, Lungu C, Singleton AB, Scholz SW, Reed X, Uitti RJ, Ross OA, Grenn FP, Moore A, Alcalay RN, Wszolek ZK, Gan-Or Z, Rouleau GA, Krohn L, Mufti K, van Hilten JJ, Marinus J, Adarmes-Gómez AD, Aguilar M, Alvarez I, Alvarez V, Barrero FJ, Yarza JAB, Bernal-Bernal I, Blazquez M, Bonilla-Toribio M, Botía JA, Boungiorno MT, Buiza-Rueda D, Cámara A, Carrillo F, Carrión-Claro M, Cerdan D, Clarimón J, Compta Y, Diez-Fairen M, Dols-Icardo O, Duarte J, Duran R, Escamilla-Sevilla F, Ezquerra M, Feliz C, Fernández M, Fernández-Santiago R, Garcia C, García-Ruiz P, Gómez-Garre P, Heredia MJG, Gonzalez-Aramburu I, Pagola AG, Hoenicka J, Infante J, Jesús S, Jimenez-Escrig A, Kulisevsky J, Labrador-Espinosa MA, Lopez-Sendon JL, de Munain Arregui AL, Macias D, Torres IM, Marín J, Marti MJ, Martínez-Castrillo JC, Méndez-Del-Barrio C, González MM, Mata M, Mínguez A, Mir P, Rezola EM, Muñoz E, Pagonabarraga J, Pastor P, Errazquin FP, Periñán-Tocino T, Ruiz-Martínez J, Ruz C, Rodriguez AS, Sierra M, Suarez-Sanmartin E, Tabernero C, Tartari JP, Tejera-Parrado C, Tolosa E, Valldeoriola F, Vargas-González L, Vela L, Vives F, Zimprich A, Pihlstrom L, Toft M, Taba P, Koks S, Hassin-Baer S, Majamaa K, Siitonen A, Tienari P, Okubadejo NU, Ojo OO, Kaiyrzhanov R, Shashkin C, Zharkinbekova N, Akhmetzhanov V, Kaishybayeva G, Karimova A, Khaibullin T, Lynch TL and International Parkinson's Disease Genomics Consortium (IPDGC).

    Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.

    ANNALS OF NEUROLOGY . 90(1): 35-42. Nº de cites: 26

    [doi:10.1002/ana.26090]

  • Cano-Garrido O, Álamo P, Sánchez-García L, Falgàs A, Sánchez-Chardi A, Serna N, Parladé E, Unzueta U, Roldan-Molina M, Voltà-Durán E, Casanova I, Villaverde A, Mangues R and Vázquez E.

    Biparatopic Protein Nanoparticles for the Precision Therapy of CXCR4(+) Cancers

    Cancers . 13(12): 2929. Nº de cites: 7

    [doi:10.3390/cancers13122929]

  • Pijuan-Marquilles J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá-San Martin A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.

    PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.

    AUTISM RESEARCH . 14(6): 1088-1100. Nº de cites: 5

    [doi:10.1002/aur.2502]

  • 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 cites: 3

    [doi:10.3390/ijms22105180]

  • Pérez-Santamarina E, García-Ruiz P, Martínez-Rubio D, Ezquerra M, Pla-Navarro I, Puente J, Martí MJ, Palau F and Hoenicka J.

    Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

    SCIENTIFIC REPORTS . 11(1): 9879-9879. Nº de cites: 4

    [doi:10.1038/s41598-021-89300-6]

  • Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB and EFACTS study group.

    Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.

    LANCET NEUROLOGY . 20(5): 362-372. Nº de cites: 35

    [doi:10.1016/S1474-4422(21)00027-2]

  • Civera-Tregon A, Dominguez-Brezosa L, Martínez-Valero P, Serrano C, Vallmitjana A, Benítez R, Hoenicka J, Satrústegui J and Palau F.

    Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model

    NEUROBIOLOGY OF DISEASE . 152: 105300-105300. Nº de cites: 13

    [doi:10.1016/j.nbd.2021.105300]