Publicaciones
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Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou-Munoz C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F and Bönnemann CG.
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
JCI Insight . 4(6): . Nº de citas: 36
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Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Nascimento-Osorio A, Villanova D, Kemaladewi DU, Cohn RD, Brudno M and Dowling JJ.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
AMERICAN JOURNAL OF HUMAN GENETICS . 104(3): 466-483. Nº de citas: 155
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García-Rincón D, Díaz-Alonso J, Paraíso-Luna J, Ortega Z, Aguareles J, de Salas-Quiroga A, Jou-Munoz C, de Prada I, Martínez-Cerdeño V, Aronica E, Guzmán M, Pérez-Jiménez MÁ and Galve-Roperh I.
Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia
FRONTIERS IN PHARMACOLOGY . 9: 1508-1508. Nº de citas: 9
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Ortez-Gonzalez CI, Natera-de Benito D, Carrera García L, Expósito J, Nolasco G and Nascimento-Osorio A.
Advances in the treatment of Duchenne muscular dystrophy
MEDICINA-BUENOS AIRES . 79: 77-81. Nº de citas: 2
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Natera-de Benito D, Ortez-Gonzalez CI, Carrera García L, Expósito J, Bobadilla E and Nascimento-Osorio A.
Diagnosis and treatment of congenital myopaties
MEDICINA-BUENOS AIRES . 79: 82-86. Nº de citas: 3
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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 citas: 13
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Natera-de Benito D, Berciano J, García A, M de Lucas E, Ortez-Gonzalez CI and Nascimento-Osorio A.
Acute Flaccid Myelitis With Early, Severe Compound Muscle Action Potential Amplitude Reduction: A 3-Year Follow-up of a Child Patient.
Journal of Clinical Neuromuscular Disease . 20(2): 100-101.
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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 citas: 27
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Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de citas: 10
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Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN and Taylor RW.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
EMBO Molecular Medicine . 10(11): 9060-9060. Nº de citas: 55