People / Staff

Francesc Palau Martínez

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Publications

  • Hernández-Rodríguez J, Martínez-Valle F, Acebes X, Alerany C, Anton-Lopez J, Calvo G, Corral M, Cruz J, Mangues-Bafalluy MA, Mateo J, Rivera J, Salazar A, Francisco R, Mallol C, Reig-Viader R, Tigri-Santiña A, Ricart A and Palau F.

    Identification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project

    Orphanet Journal of Rare Diseases . 20(1): 42-42.

    [doi:10.1186/s13023-024-03518-x]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases

    Brain Communications . 7(5): . Number of citations: 2

    [doi:10.1093/braincomms/fcaf348]

  • Lischewski SA, Konrad K, Dogan I, Didszun C, Costa AS, Schawohl SA, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, de Rivera Garrido FJR, Schöls L, Fleszar Z, Klockgether T, Grobe-Einsler M, Giordano I, Rai M, Pandolfo M, Schulz JB and Reetz K.

    Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the EFACTS natural history study.

    EUROPEAN JOURNAL OF NEUROLOGY . 32(1): .

    [doi:10.1111/ene.70011]

  • 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]

  • 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]

  • Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.

    Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Number of citations: 9

    [doi:10.1038/s41431-023-01526-2]

  • Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong-Moron J, Prat-Torres CS, Martinez-Monseny T, Palau F, Liu P, Adams D, Lalani S, Rosenfeld JA and Burrage LC.

    Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

    HUMAN GENETICS . 143(3): 279-291. Number of citations: 6

    [doi:10.1007/s00439-024-02657-2]

  • Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F.

    Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants

    CLINICAL GENETICS . 105(3): 340-342.

    [doi:10.1111/cge.14454]

  • Estévez-Arias B, Matalonga L, Martorell-Sampol L, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Hoenicka J, Jou-Munoz C, Palau F, Beltran S, Lochmüller H, Töpf A, Nascimento-Osorio A and Natera-de Benito D.

    Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

    Journal of Neuromuscular Diseases . 11(3): 647-653. Number of citations: 2

    [doi:10.3233/JND-230216]

  • Lorenzo D, Esquerda-Areste M, Bofarull M, Cusi V, Roig H, Bertran J, Carrera J, Torralba F, Cambra-Lasaosa FJ, Vila M, Garriga M and Palau F.

    The reuse of genetic information in research and informed consent

    EUROPEAN JOURNAL OF HUMAN GENETICS . 31(12): 1393-1397. Number of citations: 5

    [doi:10.1038/s41431-023-01457-y]