Publicacions
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O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Mitochondrion . 22: 17-22. Nº de cites: 13
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Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.
Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing
Cell . 161(3): 459-469. Nº de cites: 213
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Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.
Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations
Frontiers in Genetics . 6: 102-102. Nº de cites: 17
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Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.
Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders
Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de cites: 3
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Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.
Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature
CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Nº de cites: 1
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Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.
BRAIN . : .
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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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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 . : 167163-167163.