Personas / Equipo Humano

Francesc Palau Martínez

Buscador de publicaciones

Publicaciones

  • Carmona R, Roldán G, Fernández-Rueda JL, Navarro A, Peña-Chilet M, Dopazo J and López-López D.

    The Spanish Polygenic Score reference distribution: a resource for personalized medicine.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 34: 270-277.

    [doi:10.1038/s41431-025-01850-9]

  • Olival J, Hoenicka J, Arca-Diaz G, Arnaez-Solis J, Agut-Quijano T, Maynou-Fernández J, Stephan-Otto C, Nuñez C, Benavente I, Simon Pedro Lubian López, Palau F and García-Alix A.

    Idiopathic neonatal arterial ischaemic stroke: a trio-based whole-exome sequencing study

    Archives of Disease in Childhood-Fetal and Neonatal Edition . : .

    [doi:10.1136/archdischild-2025-329771]

  • Estévez-Arias B, Sarv S, Bonello-Palot N, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero JM, Yubero-Siles D, Muchart-Lopez J, Delmont E, Õiglane-Shlik E, Meren T, Puusepp S, Murumets Ü, Salomons GS, Udd B, Väli L, Cantarero-Abad L, Bönnemann CG, Nascimento-Osorio A, Ramón-Maiques S, Õunap K, Hoenicka J, Natera-de Benito D and Palau F.

    Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

    ANNALS OF NEUROLOGY . 98(6): 1335-1351. Nº de citas: 1

    [doi:10.1002/ana.78005]

  • Pascual-Rodriguez A, Moulka, T, de Fàbregues, O, Repossi, R, García-Ruiz, PJ, Ortolano, S, De Lucca, M, Vela-Desojo, L, Alves-Villar, M, Frías, M, Feliz-Feliz, C, Roldan-Molina M, Olival, J, Fernandez-Isern G, Palau F, Pijuan-Marquilles J and Hoenicka J.

    Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 26(19): .

    [doi:10.3390/ijms26199454]

  • Vela-Desojo L, Pascual-Rodriguez A, Montal V, Guerrero C, Osuna-Lopez M, Guallar V, Palau F and Hoenicka J.

    A new LRRK2 variant in a family with Parkinson's disease affects binding to RAB8A

    npj Parkinsons Disease . 11(1): 154-154. Nº de citas: 1

    [doi:10.1038/s41531-025-00989-y]

  • Estévez-Arias B, Matalonga L, Yubero-Siles D, Polavarapu K, Codina-Bergadà A, Ortez-Gonzalez CI, Carrera-García L, Exposito-Escudero JM, Jou-Munoz C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento-Osorio A, Hoenicka J, Palau F and Natera-de Benito D.

    Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

    EUROPEAN JOURNAL OF HUMAN GENETICS . 33(2): 239-247. Nº de citas: 8

    [doi:10.1038/s41431-024-01699-4]

  • Buchholz M, Pfaff M, Iskandar A, Reetz K, Schulz JB, Grobe-Einsler M, Klockgether T and Michalowsky B.

    Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension.

    Neurology and Therapy . 14(1): 379-398.

    [doi:10.1007/s40120-024-00694-7]

  • 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]

  • 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]

  • 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): . Nº de citas: 1

    [doi:10.1093/braincomms/fcaf348]