Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Montolío-Marzo S, Català-Mora J, Madrid-Aris Á, Armstrong-Moron J, Diaz-Carcajosa J and Carreras E.

    IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 63(12): 104073-104073. Number of citations: 5

    [doi:10.1016/j.ejmg.2020.104073]

  • Balestrini S, Mikati MA, Garcia-Roves RA, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol-Plana J, Fons-Estupina C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dziezyc K, Parowicz M, Mazurkiewicz-Beldzinska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP and Sisodiya SM.

    Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study

    Neurology . 95(21): 2866-2879. Number of citations: 21

    [doi:10.1212/WNL.0000000000010794]

  • Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA and Morales-Ballús M.

    Cataract in You-Hoover-Fong syndrome: TELO2 deficiency

    OPHTHALMIC GENETICS . 41(6): 656-658. Number of citations: 7

    [doi:10.1080/13816810.2020.1821382]

  • Miranda-Lourenço C, Duarte ST, Palminha C, Gaspar C, Rodrigues TM, Magalhães-Cardosof T, Rei N, Colino-Oliveira M, Gomes R, Ferreira S, Rosa J, Xapelli S, Armstrong-Moron J, Garcia-Cazorla A, Correia-de-Sá P, Sebastião AM and Diógenes MJ.

    Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.

    NEUROBIOLOGY OF DISEASE . 145: 105043-105043. Number of citations: 9

    [doi:10.1016/j.nbd.2020.105043]

  • Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.

    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

    SCIENTIFIC REPORTS . 10(1): 18291-18291. Number of citations: 32

    [doi:10.1038/s41598-020-75500-z]

  • Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.

    De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

    AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Number of citations: 27

    [doi:10.1016/j.ajhg.2020.08.015]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Number of citations: 15

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SK, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian M, Steel D, Manti F, Meeks KD, Jeltsch K and Flint L.

    AADCdeficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(5): 1121-1130. Number of citations: 54

    [doi:10.1002/jimd.12247]

  • Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B and Espinós C.

    Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect

    Annals of Clinical and Translational Neurology . 7(8): 1436-1442. Number of citations: 22

    [doi:10.1002/acn3.51095]

  • Mantegazza R, O'Brien FL, Yountz M, Howard JF Jr and REGAIN study group.

    Consistent improvement with eculizumab across muscle groups in myasthenia gravis

    Annals of Clinical and Translational Neurology . 7(8): 1327-1339. Number of citations: 20

    [doi:10.1002/acn3.51121]