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Publicaciones

  • Olival J, Pijuan-Marquilles J, Caelles-Gramunt N, Barco N, Maestro L, Fernandez-Isern G, Hoenicka J and Palau F.

    Multi-Omics Integration in Clinical Practice for the Identification of Genetic Variants in Rare Diseases

    ARCHIVES OF MEDICAL RESEARCH . 57(8): 103506-103506.

    [doi:10.1016/j.arcmed.2026.103506]

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

    GDAP1 orchestrates redox signaling at membrane contact sites to preserve axonal integrity in Charcot-Marie-Tooth disease

    NEUROBIOLOGY OF DISEASE . 227: 107512-107512. Nº de citas: 2

    [doi:10.1016/j.nbd.2026.107512]

  • 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 . 111(5): . Nº de citas: 2

    [doi:10.1136/archdischild-2025-329771]

  • Wu LY, du Toit T, Georgiades T, Stafford EJ, Levine K, Fang ZH, Jasaityte S, Martinez AG, Cullinane P, De Pablo-Fernandez E, Blauwendraat C, Singleton AB, Scholz SW, Traynor BJ, Wood N, Hardy J, Chinnery P, Houlden H, Cain R, Troakes C, Chelban V, Serrano GE, Gveric D, McLean C, Love S, King A, Robinson AC, Roncaroli F, Shepherd C, Halliday G, Parkkinen L, Morris CM, Smith C, Beach TG, Gentleman S, Warner TT, Lashley T, Jaunmuktane Z, Real R and Morris HR.

    Pathology and Genetics in a Global Cohort of Parkinsonian Disorders.

    JAMA Neurology . 83(8): 798-807. Nº de citas: 2

    [doi:10.1001/jamaneurol.2026.1634]

  • Reyes-Pérez P, Hor JW, Toh TS, Sanyaolu AO, Pantazis CB, Leal TP, Yeboah S, Bandres-Ciga S, Morris HR, Makarious MB, Senkevich K, Leonard H and Atterling Brolin K.

    Exploring MAPT-containing H1 and H2 haplotypes in Parkinson's disease across diverse populations.

    npj Parkinsons Disease . 12(1): 187. Nº de citas: 1

    [doi:10.1038/s41531-026-01394-9]

  • Chu YT, Su YA, Lin CH, Tai CH, Wu YR, Hong CT, Chen YW, Tsai MH, Hardy J, Mok KY and Wu RM.

    Genome-wide association and population-tailored polygenic risk for Parkinson's disease in Taiwan.

    npj Parkinsons Disease . 12(1): 191. Nº de citas: 1

    [doi:10.1038/s41531-026-01349-0]

  • Step K, Hernández CF, Khani M, Eltaraifee E, Hernández-Medrano AJ, Kung PJ, Ostrožovicová M, Zirra A, Pérez-Palma E, Mencacci NE, Keller Sarmiento IJ, Morris HR, Mata IF, Acosta-Uribe J, Fang ZH and Bandres-Ciga S.

    Genome-Wide Assessment Reveals Ancestral Differences in Homozygosity Patterns Potentially Linked to Parkinson's Disease Etiology.

    MOVEMENT DISORDERS . 41(5): 1128-1140.

    [doi:10.1002/mds.70182]

  • Landoulsi Z, Sreelatha AAK, Kuznetsov N, Schulte C, Bobbili DR, Montanucci L, Leu C, Niestroj LM, Hassanin E, Domenighetti C, Sugier PE, Radivojkov-Blagojevic M, Lichtner P, Portugal B, Edsall C, Krüger J, Hernandez DG, Blauwendraat C, Mellick GD, Zimprich A, Pirker W, Tan M, Rogaeva E, Lang A, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschländer AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Burbulla LF, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Pavelka L, Kolber P, van de Warrenburg BP, Bloem BR, Singleton AB, Vitale D, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Wirdefeldt K, Pedersen NL, Ran C, Belin AC, Puschmann A, Clarke CE, Morrison KE, Krainc D, Farrer MJ, Lal D, Elbaz A, Gasser T, Krüger R, Sharma M and May P.

    Genome-wide association study of copy number variations in Parkinson's disease.

    npj Parkinsons Disease . 12(1): 160.

    [doi:10.1038/s41531-025-01245-z]

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

    Unraveling GDAP1: Bridging Mitochondrial Biology and Peripheral Neuropathy

    Biomolecules . 16(2): . Nº de citas: 1

    [doi:10.3390/biom16020280]

  • Lim KS, Periñan MT, Chew EGY, Lee PS, Akçimen F, Lim JL, Koretsky MJ, Funayama M, Yoshino H, Hattori N, Kaiyrzhanov R, Houlden H, Isayan M, Tay YW, Toh TS, Lit LC, Khairul Anuar AN, Ding HX, Screven L, Ibrahim NM, Lin CH, Kim HJ, Lee JY, Chung SJ, Foo JN, Tan EK, Lim SY, Tan AH, Bandres-Ciga S and Ahmad-Annuar A.

    Association of LRRK2 p.A419V with Parkinson's Disease in East Asians and analysis of age at onset.

    npj Parkinsons Disease . 12(1): 51-51.

    [doi:10.1038/s41531-026-01265-3]