Publicacions
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Bloomfield M, Lautarescu A, Heraty S, Douglas S, Violland P, Plas R, Ghosh A, Van den Bosch K, Eaton E, Absoud M, Battini R, Blázquez Hinojosa A, Bolshakova N, Bölte S, Bonanni P, Borg J, Calderoni S, Calvo Escalona R, Castelo-Branco M, Castro-Fornieles J, Caro P, Cliquet F, Danieli A, Delorme R, Elia M, Hempel M, Leblond CS, Madeira N, McAlonan G, Milone R, Molloy CJ, Mouga S, Montiel MV, Pina Rodrigues A, Schaaf CP, Serrano M, Tammimies K, Tye C, Vigevano F, Oliveira G, Mazzone B, O'Neill C, Pender J, Romero V, Tillmann J, Oakley B, Murphy DGM, Gallagher L, Bourgeron T, Chatham C and Charman T.
European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
BMJ Open . 14(6): .
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Launay N, Lopez-Erauskin J, Bianchi P, Guha S, Parameswaran J, Coppa A, Torreni L, Schlüter A, Fourcade S, Paredes-Fuentes AJ, Artuch-Iriberri R, Casasnovas C, Ruiz M and Pujol A.
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
BRAIN . 147(6): 2069-2084.
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Gallego D, Serrano M, Cordoba-Caballero J, Gámez A, Seoane P, Perkins JR, Ranea JAG and Pérez B.
Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1870(5): 167163-167163.
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Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.
Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review
PEDIATRIC NEUROLOGY . 155: 8-17.
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Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnyte B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsofi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioglu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloglu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McLean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petkovic Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C and Prokisch H.
Genetic landscape of pediatric acute liver failure of indeterminate origin
HEPATOLOGY . 79(5): 1075-1087. Nº de cites: 4
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Illescas S, Diaz-Osorio Y, Serradell A, Toro-Soria L, Musokhranova U, Julià-Palacios NA, Ribeiro J, Altafaj X, Olivella M, O'Callaghan-Gordo M, Darling A, Armstrong-Moron J, Artuch-Iriberri R, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Metabolic characterization of neurogenetic disorders involving glutamatergic neurotransmission
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 551-569. Nº de cites: 1
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Peters TMA, Engelke UFH, de Boer S, Reintjes JTG, Roullet JB, Broekman S, de Vrieze E, van Wijk E, Wamelink MMC, Artuch-Iriberri R, Baric I, Merx J, Boltje TJ, Martens J, Willemsen MAAP, Verbeek MM, Wevers RA, Gibson KM and Coene KLM.
Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective
JOURNAL OF INHERITED METABOLIC DISEASE . 47(3): 417-430. Nº de cites: 2
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Rullo-Tubau J, Martinez-Molledo M, Bartoccioni P, Puch-Giner I, Arias AY, Saen-Oon S, Stephan-Otto Attolini C, Artuch-Iriberri R, Díaz L, Guallar V, Errasti-Murugarren E, Palacín M and Llorca O.
Structure and mechanisms of transport of human Asc1/CD98hc amino acid transporter
NATURE COMMUNICATIONS . 15(1): 2986-2986.
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Emperador S, Habbane M, López-Gallardo E, Del Rio A, Llobet L, Mateo J, Sanz-López AM, Fernández-García MJ, Sánchez-Tocino H, Benbunan-Ferreiro S, Calabuig-Goena M, Narvaez-Palazón C, Fernández-Vega B, González-Iglesias H, Urreizti R, Artuch-Iriberri R, Pacheu-Grau D, Bayona-Bafaluy P, Montoya J and Ruiz-Pesini E.
Identification and characterization of a new pathologic mutation in a large Leber hereditary optic neuropathy pedigree
ORPHANET JOURNAL OF RARE DISEASES . 19(1): 148-148.
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Cascajo-Almenara MV, Julià-Palacios NA, Urreizti R, Sánchez-Cuesta A, Fernández-Ayala DM, García-Díaz E, Oliva-Mussara C, O Callaghan MDM, Paredes-Fuentes AJ, Moreno-Lozano PJ, Muchart-Lopez J, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Pineda M, Rivera N, Fortuna TR, Rajan DS, Navas P, Salviati L, Palau F, Yubero-Siles D, Garcia-Cazorla A, Bhan-Pandey U, Santos-Ocaña C and Artuch-Iriberri R.
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
EUROPEAN JOURNAL OF HUMAN GENETICS . 32(4): 426-434. Nº de cites: 1