Research

Metabolomics and biochemical genetics

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Publications

  • Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A and Durr A.

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    AMERICAN JOURNAL OF HUMAN GENETICS . 110(7): 1098-1109. Number of citations: 14

    [doi:10.1016/j.ajhg.2023.05.009]

  • Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.

    BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

    BRAIN . 146(7): 3003-3013. Number of citations: 10

    [doi:10.1093/brain/awad010]

  • Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.

    Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

    Frontiers in pediatrics . 11: 1184529-1184529. Number of citations: 3

    [doi:10.3389/fped.2023.1184529]

  • De Giorgi A, Nardecchia F, Manti F, Campistol-Plana J and Leuzzi V.

    Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review

    MOLECULAR GENETICS AND METABOLISM . 139(2): 107588-107588. Number of citations: 4

    [doi:10.1016/j.ymgme.2023.107588]

  • Paredes-Fuentes AJ, Oliva-Mussara C, Urreizti R, Yubero-Siles D and Artuch-Iriberri R.

    Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

    CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES . 60(4): 270-289. Number of citations: 5

    [doi:10.1080/10408363.2023.2166013]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Number of citations: 5

    [doi:10.1111/bpa.13134]

  • Cantó-Santos J, Valls-Roca L, Tobías E, García-García FJ, Guitart-Mampel M, Esteve-Codina A, Martín-Mur B, Casado-Rio M, Artuch-Iriberri R, Solsona-Vilarrasa E, Fernandez-Checa JC, García-Ruiz C, Rentero C, Enrich C, Moreno-Lozano PJ, Milisenda JC, Cardellach F, Grau-Junyent JM and Garrabou G.

    Unravelling inclusion body myositis using a patient-derived fibroblast model

    JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE . 14(2): 964-977. Number of citations: 4

    [doi:10.1002/jcsm.13178]

  • Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls, H, Martinez-Cabrera, R, Prat-Planas, A, Rojano, E, Ranea, JAG, Seoane, P, Oliva-Mussara C, Paredes-Fuentes, AJ, Marfany G, Artuch-Iriberri R, Grinberg-Vaisman DR, Rabionet-Janssen R, Balcells S and Urreizti R.

    Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

    JOURNAL OF MEDICAL GENETICS . 60(4): 406-415. Number of citations: 6

    [doi:10.1136/jmg-2022-108690]

  • Carreras-Blesa N, Arnaez J, Valls-Lafon A, Agut-Quijano T, Sierra-March C and Garcia-Alix A.

    CSF neopterin and beta-2-microglobulin as inflammation biomarkers in newborns with hypoxic-ischemic encephalopathy

    PEDIATRIC RESEARCH . 93(5): 1328-1335. Number of citations: 10

    [doi:10.1038/s41390-022-02011-0]

  • López-López D, Roldán G, Fernández-Rueda JL, Bostelmann G, Carmona R, Aquino V, Perez-Florido J, Ortuño F, Pita G, Núñez-Torres R, González-Neira A, Peña-Chilet M and Dopazo J.

    A crowdsourcing database for the copy-number variation of the Spanish population

    HUMAN GENOMICS . 17(1): 20-20. Number of citations: 2

    [doi:10.1186/s40246-023-00466-8]