Research

Neurogenetics and Molecular Medicine

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Publications

  • Palau F, Cantarero-Abad L, Roldan-Molina M, Rodríguez-Sanz M, Mathison A, Díaz-Osorio Y, Pijuan-Marquilles J, Frías M, Urrutia R and Hoenicka J.

    Abnormal Redox Balance at Membrane Contact Sites Causes Axonopathy in Gdap1-related Charcot-marie-tooth Disease.

    research square . : .

    [doi:10.21203/rs.3.rs-5682984/v1]

  • Llach J, Luzko I, Earl J, Barreto E, Rodríguez-Garrote M, Lleixà M, Herrera-Pariente C, Fernandez-Isern G, Munoz J, Bonjoch L, Saurí T, Ausania F, Ocaña T, Moreno L, Grau E, Oriola J, Alvarez-Mora MI, Herreros-Villanueva M, Castellví-Bel S, Balaguer F, Bujanda L and Moreira L.

    Should We Offer Universal Germline Genetic Testing to All Patients with Pancreatic Cancer? A Multicenter Study.

    Cancers . 16(22): .

    [doi:10.3390/cancers16223779]

  • Amato ME, Balsells S, Martorell-Sampol L, Alcalá-San Martin A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS and Ortigoza-Escobar JD.

    Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 63-72. Number of citations: 3

    [doi:10.1016/j.ejpn.2024.10.005]

  • Theron A, Alonso-Saladrigues A, Dapena JL, López-Duarte M, Diaz de Heredia C, Verdú-Amorós J, Sarrate E, Esperanza-Cebollada E, Cuatrecasas E, Andreu S, Conde N, Sanchez-Sierra N, Isola I, Camós-Guijosa M, Torrebadell-Burriel M, Rives-Solà S and Català-Temprano A.

    Secondary haematological dysplasia after CAR-T-cell therapy for acute lymphoblastic leukaemia in children

    BRITISH JOURNAL OF HAEMATOLOGY . : 186-194.

    [doi:10.1111/bjh.19862]

  • Di Feo MF, Oghabian A, Nippala E, Gautel M, Jungbluth H, Forzano F, Malfatti E, Castiglioni C, Krey I, Gomez Andres D, Brady AF, Iascone M, Cereda A, Pezzani L, Natera-de Benito D, Nascimento-Osorio A, Estévez-Arias B, Kurbatov SA, Attie-Bitach T, Nampoothiri S, Ryan E, Morrow M, Gorokhova S, Chabrol B, Sinisalo J, Tolppanen H, Tolva J, Munell F, Camacho Soriano J, Sanchez Duran MA, Johari M, Tajsharghi H, Hackman P, Udd B and Savarese M.

    Inferring disease course from differential exon usage in the wide titinopathy spectrum

    Annals of Clinical and Translational Neurology . 11(10): 2745-2755. Number of citations: 2

    [doi:10.1002/acn3.52189]

  • Dominguez-Brezosa L, Cantarero-Abad L, Rodríguez-Sanz M, Tort-Vázquez G, Garrido E, Johanna Troya Balseca, Saez M, Castro-Martinez X, Fernandez-Lizarbe S, Urquizu E, Calvo E, Lopez JA, Palomo T, Palau F and Hoenicka J.

    ANKK1 Is a Wnt/PCP Scaffold Protein for Neural F-ACTIN Assembly

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(19): 10705. Number of citations: 1

    [doi:10.3390/ijms251910705]

  • Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT and Mankad K.

    Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development

    AMERICAN JOURNAL OF NEURORADIOLOGY . 45(10): 1570-1577. Number of citations: 1

    [doi:10.3174/ajnr.A8364]

  • Natera-de Benito D, Pugliese A, Polavarapu K, Guergueltcheva V, Tournev I, Todorova A, Afonso Ribeiro J, Fernández-Mayoralas DM, Ortez-Gonzalez CI, Martorell-Sampol L, Estévez-Arias B, Matalonga L, Laurie S, Jou-Munoz C, Lau J, Thompson R, Shen X, Engel AG, Nascimento-Osorio A, Lochmüller H and Selcen D.

    Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases

    PEDIATRIC NEUROLOGY . 157: 5-13. Number of citations: 2

    [doi:10.1016/j.pediatrneurol.2024.04.027]

  • Serrano M, Elias-Abadias M, Llorens M, Bolasell M, Vall-Roqué H and Villalta L.

    Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial

    Trials . 25(1): 496-496.

    [doi:10.1186/s13063-024-08278-4]

  • Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny T, Fergelot P, Monteiro FP, Parenti I, Persani L, Simarro FS, Simpson BN, Alders M, Robertson SP, Sadikovic B and Menke LA.

    Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

    Human Genetics and Genomics Advances . 5(3): 100287-100287. Number of citations: 6

    [doi:10.1016/j.xhgg.2024.100287]