People / Staff

Cristina Jou Muñoz

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Publications

  • Natera-de Benito D, Ortez-Gonzalez CI, Jou-Munoz C, Jimenez-Mallebrera C, Codina-Bergadà A, Carrera-García L, Exposito-Escudero JM, César-Díaz S, Martorell-Sampol L, Gallano P, Gonzalez-Quereda L, Cuadras-Palleja D, Colomer J, Yubero-Siles D, Palau F and Nascimento-Osorio A.

    The Phenotype and Genotype of Congenital Myopathies Based on a Large Pediatric Cohort

    PEDIATRIC NEUROLOGY . 115: 50-65. Number of citations: 7

    [doi:10.1016/j.pediatrneurol.2020.11.002]

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Number of citations: 19

    [doi:10.1007/s00401-020-02223-w]

  • 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: 11

    [doi:10.3390/antiox9100979]

  • 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

    [doi:10.1016/j.nmd.2020.07.009]

  • 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.

    [doi:10.1016/j.neuchi.2020.01.003]

  • 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: 6

    [doi:10.1007/s00381-019-04496-3]

  • 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: 11

    [doi:10.1111/epi.16493]

  • 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: 5

    [doi:10.1080/14767058.2018.1506442]

  • 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: 32

    [doi:10.1002/jimd.12156]

  • 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

    [doi:10.1016/j.medcli.2019.04.022]