Personas / Equipo Humano

Francesc Palau Martínez

Buscador de publicaciones

Publicaciones

  • Barco N, Yubero-Siles D, Xiol-Viñas C, Catasús N, Marti-Sanchez L, Armstrong-Moron J, Palau F and Fernandez-Isern G.

    Identification of autosomal and sex chromosome aneuploidies using next generation sequencing.

    BIOINFORMATICS . 42(3): .

    [doi:10.1093/bioinformatics/btag104]

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

    Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy.

    Biomolecules . 16(2): .

    [doi:10.3390/biom16020280]

  • 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(2): 270-277. Nº de citas: 1

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

  • 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]

  • Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.

    Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

    JOURNAL OF CLINICAL INVESTIGATION . 135(19): . Nº de citas: 5

    [doi:10.1172/JCI193107]

  • 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]

  • 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: 3

    [doi:10.1093/braincomms/fcaf348]

  • 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: 3

    [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]