Publicacions
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Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, Garcia-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V and Maillot F.
Betaine anhydrous in homocystinuria: results from the RoCH registry
ORPHANET JOURNAL OF RARE DISEASES . 14: 66-66. Nº de cites: 14
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Baide-Mairena H, Gaudó P, Marti-Sanchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch-Iriberri R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya C, Bayona-Bafaluy MP and Pérez-Dueñas B.
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood
MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Nº de cites: 18
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De Oyarzabal-Sanz AL and Marin-Valencia I.
Synaptic energy metabolism and neuronal excitability, in sickness and health
JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 220-236. Nº de cites: 38
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Puerta-Roldan P, López VS, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J, Thomas C and Guillen-Quesada A.
Vanishing diffuse leptomeningeal contrast enhancement in an infant with choroid plexus papilloma.
ACTA NEUROCHIRURGICA . 161(2): 351-354. Nº de cites: 5
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Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.
Plasma coenzyme Q10 status is impaired in selected genetic conditions
SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 29
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Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.
Epilepsy in children with congenital hemiparesis secondary to perinatal ictus
MEDICINA-BUENOS AIRES . 79: 6-9.
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Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P and Additional individual contributors of the UCDC and the E-IMD consortium.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 93-106. Nº de cites: 39
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Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
Journal of Clinical Medicine . 8(1): . Nº de cites: 13
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Saudubray JM and Garcia-Cazorla A.
An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders
Dialogues in Clinical Neuroscience . 20(4): 301-325. Nº de cites: 65
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Candela-Cantó SA, Aparicio J, Muchart-Lopez J, Baños-Carrasco P, Ramírez-Camacho A, Climent A, Alamar M, Jou-Munoz C, Rumià J, San Antonio-Arce MV, Arzimanoglou A and Ferrer Vidal-Barraquer E.
Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues
ACTA NEUROCHIRURGICA . 160(12): 2489-2500. Nº de cites: 27