Publicaciones
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Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de citas: 26
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Balestrini S, Mikati MA, Garcia-Roves RA, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol-Plana J, Fons-Estupina C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dziezyc K, Parowicz M, Mazurkiewicz-Beldzinska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP and Sisodiya SM.
Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study
Neurology . 95(21): 2866-2879. Nº de citas: 28
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Ortigoza-Escobar JD.
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders
FRONTIERS IN NEUROLOGY . 11: 582160-582160. Nº de citas: 14
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Juárez-Flores DL, Ezquerra M, Gonzàlez-Casacuberta Ï, Ormazabal-Herrero A, Morén C, Tolosa E, Fucho R, Guitart-Mampel M, Casado-Rio M, Valldeoriola F, de la Torre-Lara J, Muñoz E, Tobías E, Compta Y, García-García FJ, García-Ruiz C, Fernandez-Checa JC, Martí MJ, Grau JM, Cardellach F, Artuch-Iriberri R, Fernández-Santiago R and Garrabou G.
Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus
ANTIOXIDANTS . 9(11): . Nº de citas: 17
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Gámez A, Serrano M, Gallego D, Vilas A and Pérez-Dueñas B.
New and potential strategies for the treatment of PMM2-CDG
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS . 1864(11): 129686-129686. Nº de citas: 32
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Parisi C, Candela-Cantó SA, Serrano M, Català-Temprano A, Aparicio J and Hinojosa J.
Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report
CHILDS NERVOUS SYSTEM . 36(11): 2851-2856. Nº de citas: 4
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Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
SCIENTIFIC REPORTS . 10(1): 18291-18291. Nº de citas: 35
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Murillo-Cuesta S, Artuch-Iriberri R, Asensio F, de la Villa P, Dierssen M, Enríquez JA, Fillat C, Fourcade S, Ibáñez B, Montoliu L, Oliver E, Pujol A, Salido E, Vallejo M and Varela-Nieto I.
The Value of Mouse Models of Rare Diseases: A Spanish Experience
Frontiers in Genetics . 11: 583932-583932. Nº de citas: 18
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López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J and Corral J.
Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
ORPHANET JOURNAL OF RARE DISEASES . 15(1): 280-280. Nº de citas: 9
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Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples
ANTIOXIDANTS . 9(10): . Nº de citas: 17
