Publicacions
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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. Nº de cites: 4
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Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado-Rio M, Artuch-Iriberri R, Garrabou G, Garcia-Roves PM, Pallardó FV and Nunes V.
The antioxidant L-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria
REDOX BIOLOGY . 64: 102801-102801. Nº de cites: 1
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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.
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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.
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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. Nº de cites: 2
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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): . Nº de cites: 2
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Amato, ME, Ricart S, Vicente-Villa MA, Martorell-Sampol L, Armstrong-Moron J, Fernandez-Isern G, Mascaro, JM, Balsells S, Alonso, I, Serrano M and Ortigoza-Escobar JD.
Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report
clinical case reports . 11(4): . Nº de cites: 1
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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. Nº de cites: 1
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Carreras-Blesa N, Arnaez-Solis 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. Nº de cites: 5
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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. Nº de cites: 1