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Browsing by Author Pujol, Aurora

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2019Clinical presentation and proteomic signature of patients with TANGO2 mutationsMingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angels; Gross, Claudia; O'Callaghan, María; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Kyle, Thompson; Navas, Plácido ; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez‐Mallebrera, Cecilia; Taylor, Robert W.; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Ritaartículo
openAccessKCNA1_activity.pdf.jpg2020Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesiaVerdura, Edgard; Font, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; Castellano, Antonio; Pujol, Auroraartículo
closedAccessaccesoRestringido.pdf.jpgMar-2015Essential role of hypodermal PMP-4 in regulating axon morphology and locomotion in a Caenorhabditis elegans modelo of X-ALDCoppa, Andrea; Guha, Sanjib K.; Miranda-Vizuete, Antonio ; Ruiz, Montserrat; Fourcade, Stéphane; Pujol, Aurora; Dalfó, Esthercomunicación de congreso
openAccessawaa229_supplementary_material.pdf.jpg21-Aug-2020Expanding the clinical and genetic spectrum of PCYT2-related disordersVélez-Santamaría, Valentina; Ventura, Edgar; Macmurdo, Colleen; Planas-Serra, Laura; Schlüter, Agatha; Casas, Josefina  ; Martínez, Juan José; Casasnovas, Carlos; Si, Yue; Thompson, Stephanie S.; Maroofian, Reza; Pujol, Auroraartículo
closedAccessaccesoRestringido.pdf.jpg2013Impaired mitochondrial oxidative phosphorylation in the peroxisomal disease X-linked adrenoleukodystrophyLópez-Erauskin, Jone; Galino, Jorge; Ruiz, Montserrat; Cuezva, José M. ; Fabregat, Isabel; Cacabelos, D.; Boada, J.; Martínez, J.; Ferrer, Isidro; Pamplona, Reinald; Villarroya, Francesc; Portero-Otín, Manuel; Fourcadeand, S.; Pujol, Auroraartículo