People / Staff

Cristina Jou Muñoz

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Publications

  • 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

    [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: 47

    [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]

  • 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.

    [doi:10.1111/ijd.14394]

  • 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: 15

    [doi:10.1038/s41598-019-50415-6]

  • 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. Number of citations: 10

    [doi:10.1016/j.seizure.2019.07.019]

  • 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): . Number of citations: 28

    [doi:10.3390/jcm8091374]

  • 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-Marquilles 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. Number of citations: 12

    [doi:10.1002/ajmg.a.61122]

  • 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. Number of citations: 32

    [doi:10.1016/j.parkreldis.2018.10.013]

  • 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): . Number of citations: 44

    [doi:10.1172/jci.insight.124403]