Skip to contents

  1. Mavrogeni, Sophie [Author]; Giannakopoulou, Aikaterini [Author]; Papavasiliou, Antigoni [Author]; Markousis-Mavrogenis, George [Author]; Pons, Roser [Author]; Karanasios, Evangelos [Author]; Noutsias, Michel [Author]; Kolovou, Genovefa [Author]; Papadopoulos, George [Author]

    Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2017

    Published in: BMC cardiovascular disorders ; 17 (2017), Artikel 197, 6 Seiten

  2. Valari, Manthoula [Author]; Theodoraki, Martha [Author]; Loukas, Ierotheos [Author]; Gkantseva-Patsoura, Sylvia [Author]; Karavana, Georgia [Author]; Falaina, Vasiliki [Author]; Lykopoulou, Lilia [Author]; Pons, Roser [Author]; Athanasiou, Ioannis [Author]; Wertheim-Tysarowska, Katarzyna [Author]; Kanaka-Gantenbein, Christina [Author]; Kiritsi, Dimitra [Author]

    Novel PLEC variant causes only mild skin fragility, but pyloric atresia, muscular dystrophy and urological manifestations

    Books
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Uppsala: Acta Dermato-Venereologica, 2019

    Published in: Acta dermato venereologica ; 99, 13 (2019), 1309-1310

  3. Markousis-Mavrogenis, George [Author]; Noutsias, Michel [Author]; Rigopoulos, Angelos G [Author]; Giannakopoulou, Aikaterini [Author]; Gatzonis, Stergios [Author]; Pons, Roser Maria [Author]; Papavasiliou, Antigoni [Author]; Vartela, Vasiliki [Author]; Bonou, Maria [Author]; Kolovou, Genovefa [Author]; Aggeli, Constantina [Author]; Christidi, Aikaterini [Author]; Bacopoulou, Flora [Author]; Tousoulis, Dimitris [Author]; Mavrogeni, Sophie [Author]

    The emerging role of combined brain/heart magnetic resonance imaging for the evaluation of brain/heart interaction in heart failure

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    2022

    Published in: Journal of Clinical Medicine ; 11(2022), 14, Artikel-ID 4009

  4. Julià-Palacios, Natalia [Author]; Kuseyri Hübschmann, Oya [Author]; Olivella, Mireia [Author]; Pons, Roser [Author]; Horvath, Gabriella [Author]; Lücke, Thomas [Author]; Fung, Cheuk-Wing [Author]; Wong, Suet-Na [Author]; Cortès-Saladelafont, Elisenda [Author]; Rovira-Remisa, M. Mar [Author]; Yıldız, Yılmaz [Author]; Mercimek-Andrews, Saadet [Author]; Assmann, Birgit [Author]; Stevanović, Galina [Author]; Manti, Filippo [Author]; Brennenstuhl, Heiko [Author]; Jung-Klawitter, Sabine [Author]; Jeltsch, Kathrin [Author]; Sivri, H. Serap [Author]; Garbade, Sven [Author]; García-Cazorla, Àngels [Author]; Opladen, Thomas [Author]

    The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    May 2024

    Published in: Journal of inherited metabolic disease ; 47(2024), 3 vom: Mai, Seite 447-462

  5. Kuseyri Hübschmann, Oya [Author]; Mohr, Alexander [Author]; Friedman, Jennifer [Author]; Manti, Filippo [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Mercimek-Andrews, Saadet [Author]; Yildiz, Yilmaz [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Oppebøen, Mari [Author]; Koht, Jeanette Aimee [Author]; Podzamczer-Valls, Inés [Author]; Domingo-Jimenez, Rosario [Author]; Ibáñez, Salvador [Author]; Alcoverro-Fortuny, Oscar [Author]; Gómez-Alemany, Teresa [Author]; de Castro, Pedro [Author]; Alfonsi, Chiara [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Guder, Philipp [Author]; Santer, René [Author]; Honzík, Tomáš [Author]; [...]

    Brain MR patterns in inherited disorders of monoamine neurotransmitters : an analysis of 70 patients

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    July 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: Juli, Seite 1070-1082

  6. Keller, Mareike [Author]; Brennenstuhl, Heiko [Author]; Kuseyri Hübschmann, Oya [Author]; Manti, Filippo [Author]; Julia Palacios, Natalia Alexandra [Author]; Friedman, Jennifer R. [Author]; Yıldız, Yılmaz [Author]; Koht, Jeanette Aimee [Author]; Wong, Suet-Na [Author]; Zafeiriou, Dimitrios I. [Author]; López-Laso, Eduardo [Author]; Pons, Roser [Author]; Kulhánek, Jan [Author]; Jeltsch, Kathrin [Author]; Serrano-Lomelin, Jesus [Author]; Garbade, Sven [Author]; Opladen, Thomas [Author]; Goez, Helly [Author]; Burlina, Alberto [Author]; Cortès-Saladelafont, Elisenda [Author]; Fernández Ramos, Joaquín Alejandro [Author]; García-Cazorla, Angeles [Author]; Hoffmann, Georg F. [Author]; Kiat Hong, Stacey Tay [Author]; [...]

    Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders : Data from the iNTD registry

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    November 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 6 vom: Nov., Seite 1489-1502

  7. Kuseyri Hübschmann, Oya [Author]; Horvath, Gabriella [Author]; Cortès-Saladelafont, Elisenda [Author]; Yıldız, Yılmaz [Author]; Pons, Roser [Author]; Friedman, Jennifer [Author]; Mercimek-Andrews, Saadet [Author]; Wong, Suet-Na [Author]; Pearson, Toni S. [Author]; Zafeiriou, Dimitrios I. [Author]; Kulhánek, Jan [Author]; Kurian, Manju A. [Author]; López-Laso, Eduardo [Author]; Oppebøen, Mari [Author]; Kılavuz, Sebile [Author]; Wassenberg, Tessa [Author]; Goez, Helly [Author]; Scholl-Bürgi, Sabine [Author]; Porta, Francesco [Author]; Honzík, Tomáš [Author]; Santer, René [Author]; Burlina, Alberto [Author]; Sivri, H. Serap [Author]; Leuzzi, Vincenzo [Author]; [...]

    Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

    Articles
    View online
    Schließen
    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    20 September 2021

    Published in: Nature Communications ; 12(2021), Artikel-ID 5529, Seite 1-13

  10. Pons, Roser; De Vivo, Darryl C.

    Mitochondrial disease

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Springer Science and Business Media LLC, 2001

    Published in: Current Treatment Options in Neurology, 3 (2001) 3, Seite 271-288

  13. Pearson, Toni S.; Pons, Roser; Ghaoui, Roula; Sue, Carolyn M.

    Genetic mimics of cerebral palsy

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    Wiley, 2019

    Published in: Movement Disorders, 34 (2019) 5, Seite 625-636

  20. Pons, Roser; Vanezis, Athanasios; Skouteli, Helen; Papavasiliou, Antigoni; Tziomaki, Magda; Syrengelas, Dimitris; Darras, Nikolaos

    Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia

    Articles
    View online
    Schließen

    Access

    Close

    Bookmarks

    You can manage bookmarks using lists, please log in to your user account for this.

    SAGE Publications, 2017

    Published in: Journal of Child Neurology, 32 (2017) 11, Seite 936-941