Publicacions
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Montolío-Marzo S, Català-Mora J, Madrid-Aris Á, Armstrong-Moron J, Diaz-Carcajosa J and Carreras E.
IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.
EUROPEAN JOURNAL OF MEDICAL GENETICS . 63(12): 104073-104073. Nº de cites: 5
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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 cites: 21
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Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA and Morales-Ballús M.
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
OPHTHALMIC GENETICS . 41(6): 656-658. Nº de cites: 5
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Miranda-Lourenço C, Duarte ST, Palminha C, Gaspar C, Rodrigues TM, Magalhães-Cardosof T, Rei N, Colino-Oliveira M, Gomes R, Ferreira S, Rosa J, Xapelli S, Armstrong-Moron J, Garcia-Cazorla A, Correia-de-Sá P, Sebastião AM and Diógenes MJ.
Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling.
NEUROBIOLOGY OF DISEASE . 145: 105043-105043. Nº de cites: 9
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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 cites: 31
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Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Nº de cites: 27
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Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity
JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 15
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Pearson TS, Gilbert L, Opladen T, Garcia-Cazorla A, Mastrangelo M, Leuzzi V, Tay SK, Sykut-Cegielska J, Pons R, Mercimek-Andrews S, Kato M, Lücke T, Oppebøen M, Kurian M, Steel D, Manti F, Meeks KD, Jeltsch K and Flint L.
AADCdeficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
JOURNAL OF INHERITED METABOLIC DISEASE . 43(5): 1121-1130. Nº de cites: 54
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Correa-Vela M, Lupo V, Montpeyó M, Sancho P, Marcé-Grau A, Hernández-Vara J, Darling A, Jenkins A, Fernández-Rodríguez S, Tello C, Ramírez-Jiménez L, Pérez B, Sánchez-Montáñez Á, Macaya A, Sobrido MJ, Martinez-Vicente M, Pérez-Dueñas B and Espinós C.
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
Annals of Clinical and Translational Neurology . 7(8): 1436-1442. Nº de cites: 22
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Mantegazza R, O'Brien FL, Yountz M, Howard JF Jr and REGAIN study group.
Consistent improvement with eculizumab across muscle groups in myasthenia gravis
Annals of Clinical and Translational Neurology . 7(8): 1327-1339. Nº de cites: 19