Publicaciones
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Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong-Moron J, Lázaro C and Esteller M.
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
GENETICS IN MEDICINE . 18(4): 378-385. Nº de citas: 33
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Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F and Espinós C.
Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
BRAIN . 139: 62-72. Nº de citas: 73
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Prieto J, León M, Ponsoda X, García-García F, Bort R, Serna E, Barneo-Muñoz M, Palau F, Dopazo J, López-García C and Torres J.
Dysfunctional mitochondrial fission impairs cell reprogramming
Cell Cycle . 15(23): 3240-3250. Nº de citas: 34
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Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Nº de citas: 19
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Cortés-Saladelafont E, Molero M, Ormazabal-Herrero A, Tristan-Noguero A, Sierra-March C, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.
Diagnosis of Biogenic Amines Synthesis Defects
Journal of Pediatric Neurology . 13(4): 186-197. Nº de citas: 2
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Koeneke A, Ponce G, Hoenicka J and Huertas E.
The ANKK1/DRD2 locus is a genomic substrate for affective priming and recognition of angry faces
BRAIN AND BEHAVIOR . 5(11): . Nº de citas: 2
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Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong-Moron J, Sebastião AM, Gribnau J, Garcia-Cazorla A, Brüstle O, Henrique D, Cabral JM and Diogo MM.
Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells.
BIOTECHNOLOGY JOURNAL . 10(10): 1578-1588. Nº de citas: 27
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Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.
Molecular diagnosis of coenzyme Q10 deficiency
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de citas: 15
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Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell-Sampol L, Garcia-Cazorla A, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J and Doherty D.
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
JOURNAL OF MEDICAL GENETICS . 52(8): 514-522. Nº de citas: 215
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Martinez-Monseny T, Bobillo-Perez S, Martínez Planas A and García-García JJ.
The role of complementary examinations and home monitoring in patients at risk from apparent life threatening event, apneas and sudden infant death syndrome
ANALES DE PEDIATRIA . 83(2): 104-108.