Publicacions
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Fernández-Marmiesse A, Sánchez-Iglesias S, Darling A, O'Callaghan-Gordo M, Tonda R, Jou-Munoz C and Araújo-Vilar D.
A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 71: 161-165. Nº de cites: 10
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Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou-Munoz C, Casado-Rio M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch-Iriberri R, Cabo R, Jackson S and Navas P.
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency
Journal of Clinical Medicine . 8(9): . Nº de cites: 25
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Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina-Bergadà A, Jou-Munoz C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez-Gonzalez CI, Exposito-Escudero JM, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S and Nascimento-Osorio A.
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(6): 915-926. Nº de cites: 12
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Darling A, Aguilera-Albesa S, Tello CA, Serrano M, Tomás M, Camino-León R, Fernández-Ramos J, Jiménez-Escrig A, Poó P, O'Callaghan-Gordo M, Ortez-Gonzalez CI, Nascimento-Osorio A, Fernández Mesaque RC, Madruga M, Arrabal L, Roldan S, Gómez-Martín H, Garrido C, Temudo T, Jou-Munoz C, Muchart-Lopez J, Huisman TAGM, Poretti A, Lupo V, Espinós C and Pérez-Dueñas B.
PLA2G6-associated neurodegeneration: New insights into brain abnormalities and disease progression
PARKINSONISM & RELATED DISORDERS . 61: 179-186. Nº de cites: 29
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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 cites: 36
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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 cites: 9
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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 cites: 13
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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 cites: 27
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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 cites: 55
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San Millan B and Jou-Munoz C.
Histopathology in HCM.
Global cardiology science & practice . 2018(3): 20-20.