Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • 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: 13

    [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: 35

    [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: 31

    [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: 16

    [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: 62

    [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: 24

    [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: 25

    [doi:10.1002/acn3.51121]

  • Ng J, Cortés-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, Garcia-Cazorla A, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E and Kurian MA.

    DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia

    MOVEMENT DISORDERS . 35(8): 1357-1368. Number of citations: 25

    [doi:10.1002/mds.28063]

  • Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.

    Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases

    Neurochirurgie . 66(4): 266-269.

    [doi:10.1016/j.neuchi.2020.01.003]