Publications
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Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.
Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples
ANTIOXIDANTS . 9(10): . Number of citations: 13
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Bobadilla-Quesada EJ, Natera-de Benito D, Carrera-García L, Ortez-Gonzalez CI, Exposito-Escudero J, Jimenez-Mallebrera C, Jou-Munoz C, Codina-Bergadà A, Joan R. Corbera Torredeflò, Moya O, Saez V, Gonzalez-Quereda L, Gallano P, Colomer J, Cuadras-Palleja D, Medina J, Yoldi ME and Nascimento-Osorio A.
Early and long-term effect of the treatment with pyridostigmine in patients with GMPPB-related congenital myasthenic syndrome
NEUROMUSCULAR DISORDERS . 30(9): 719-726. Number of citations: 3
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Andermatten JA, Candela-Cantó SA, Jou-Munoz C, Aparicio J, Muchart-Lopez J, Martinez OC, Rumià J and Hinojosa J.
Gliomatosis cerebri and Rasmussen's encephalitis: Two different entities causing refractory epilepsy. Comparison through two clinical cases
Neurochirurgie . 66(4): 266-269.
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Nunes Dias L, Candela-Cantó SA, Jou-Munoz C, Aparicio J, García-García S and Mena-Bernal JH.
Multinodular and vacuolating neuronal tumor associated with focal cortical dysplasia in a child with refractory epilepsy: a case report and brief review of literature
CHILDS NERVOUS SYSTEM . 36(7): 1557-1561. Number of citations: 7
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Natera-de Benito D, Muchart-Lopez J, Debora Coritza Itzep Perez, Ortez-Gonzalez CI, González-Quereda L, Gallano P, Ramírez-Camacho A, Aparicio J, Domínguez-Carral J, Carrera-García L, Exposito-Escudero JM, Pardo Cardozo N, Cuadras-Palleja D, Codina-Bergadà A, Jou-Munoz C, Jimenez-Mallebrera C, Palau F, Colomer J, Arzimanoglou A, Nascimento-Osorio A and San Antonio-Arce MV.
Epilepsy in LAMA2-related muscular dystrophy: An electro-clinico-radiological characterization
Epilepsia . 61(5): 971-983. Number of citations: 16
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Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.
Broadening the spectrum of neonatal hemochromatosis
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Number of citations: 6
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Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.
Clinical presentation and proteomic signature of patients with TANGO2 mutations
JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Number of citations: 41
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Milisenda JC, García AM, Jou-Munoz C, Pinal-Fernandez I, O'Callaghan AS and Grau JM.
Sporadic inclusion body myositis: Diagnostic value of p62 immunostaining
MEDICINA CLINICA . 153(11): 437-440. Number of citations: 1
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Lázaro-Simó AI, Vicente-Villa MA, Martin-González M, Jou-Munoz C and González-Enseñat MA.
Adnexal polyp of neonatal skin: a forgotten diagnosis
INTERNATIONAL JOURNAL OF DERMATOLOGY . 58(12): 1466-1467.
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Milev MP, Stanga D, Schänzer A, Nascimento-Osorio A, Saint-Dic D, Ortez-Gonzalez CI, Natera-de Benito D, Barrios DG, Colomer J, Badosa C, Jou-Munoz C, Gallano P, Gonzalez-Quereda L, Töpf A, Johnson K, Straub V, Hahn A, Sacher M and Jimenez-Mallebrera C.
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein
SCIENTIFIC REPORTS . 9: 14036-14036. Number of citations: 13