Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Klinke G, Richter S, Monostori P, Schmidt-Mader B, Garcia-Cazorla A, Artuch-Iriberri R, Christ S, Opladen T, Hoffmann GF, Blau N and Okun JG.

    Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 712-725. Number of citations: 8

    [doi:10.1002/jimd.12213]

  • Candela-Cantó SA, Alamar M, Aláez C, Muchart-Lopez J, Forero C, de la Gala C, Munuera-del Cerro JL, Serrano S, Quintillá-Martínez JM and Hinojosa J.

    Highly realistic simulation for robot-assisted hypothalamic hamartoma real-time MRI-guided laser interstitial thermal therapy (LITT)

    CHILDS NERVOUS SYSTEM . 36(6): 1131-1142. Number of citations: 7

    [doi:10.1007/s00381-020-04563-0]

  • Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O and International Working Group on Neurotransmitter related Disorders (iNTD).

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 126-126. Number of citations: 77

    [doi:10.1186/s13023-020-01379-8]

  • Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, Posset R and Urea Cycle Disorders Consortium (UCDC) and the European registry and network for.

    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

    HUMAN MUTATION . 41(5): 946-960. Number of citations: 13

    [doi:10.1002/humu.23983]

  • 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: 16

    [doi:10.1002/mds.28063]

  • Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.

    Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization

    Epilepsia . 61(5): 971-983. Number of citations: 11

    [doi:10.1111/epi.16493]

  • Marta Sanz Palau, López-Sala A, Palacio-Navarro A, Turón M, Callejón L, Sans A, Poo P, Boix Lluch C and Colomé-Roura R.

    Prognostic factors and profile in traumatic brain injury in the paediatric age

    REVISTA DE NEUROLOGIA . 70(7): 235-245. Number of citations: 2

    [doi:10.33588/rn.7007.2019393]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Number of citations: 13

    [doi:10.1111/cge.13718]

  • Armangue-Salvador T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista M, Ariño H, González V, Felipe-Rucián A, Jesús Martínez-González M, Cantarín-Extremera V, Concepción Miranda-Herrero M, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintoré M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J and Spanish Pediatric anti-MOG Study Group.

    Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.

    LANCET NEUROLOGY . 19(3): 234-246. Number of citations: 169

    [doi:10.1016/S1474-4422(19)30488-0]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 32

    [doi:10.1002/jimd.12156]