Bibliotecas PUC-SP - Busca Integrada

Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

von George K. Papadimas, Roser Pons, Johanna Palmio
Veröffentlicht in Frontiers in Neurology (2022-01-01)

A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss

von Spiros Vittas, Maria Bisba, Georgia Christopoulou, Loukia Apostolakopoulou, Roser Pons, Pantelis Constantoulakis
Veröffentlicht in Genes (2023-06-01)

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

von Sophie Mavrogeni, Aikaterini Giannakopoulou, Antigoni Papavasiliou, George Markousis-Mavrogenis, Roser Pons, Evangelos Karanasios, Michel Noutsias, Genovefa Kolovou, George Papadopoulos
Veröffentlicht in BMC Cardiovascular Disorders (2017-07-01)

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children

von Lamprini Nasi, Alexios Alexopoulos, Eleftheria Kokkinou, Kleoniki Roka, Maria Tzetis, Maria Tsipi, Talia Kakourou, Christina Kanaka-Gantenbein, George Chrousos, Antonis Kattamis, Roser Pons
Veröffentlicht in Acta Dermato-Venereologica (2023-06-01)

Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations

von Manthoula Valari, Martha Theodoraki, Ierotheos Loukas, Sylvia Gkantseva-Patsoura, Georgia Karavana, Vasiliki Falaina, Lilia Lykopoulou, Roser Pons, Ioannis Athanasiou, Katarzyna Wertheim-Tysarowska, Christina Kanaka-Gantenbein, Dimitra Kiritsi
Veröffentlicht in Acta Dermato-Venereologica (2019-10-01)

Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases

von George Markousis-Mavrogenis, Aikaterini Giannakopoulou, Antonios Belegrinos, Maria Roser Pons, Maria Bonou, Vasiliki Vartela, Antigoni Papavasiliou, Aikaterini Christidi, Soultana Kourtidou, Genovefa Kolovou, Flora Bacopoulou, George P. Chrousos, Sophie I. Mavrogeni
Veröffentlicht in Journal of Clinical Medicine (2022-10-01)

Kidney cancer PDOXs reveal patient‐specific pro‐malignant effects of antiangiogenics and its molecular traits

von Lidia Moserle, Roser Pons, Mar Martínez‐Lozano, Gabriela A Jiménez‐Valerio, August Vidal, Cristina Suárez, Enrique Trilla, José Jiménez, Inés de Torres, Joan Carles, Jordi Senserrich, Susana Aguilar, Luis Palomero, Alberto Amadori, Oriol Casanovas
Veröffentlicht in EMBO Molecular Medicine (2020-11-01)

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

von Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Veröffentlicht in Epilepsia Open (2020-09-01)

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

von Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Veröffentlicht in Nature Communications (2021-09-01)

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

von Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Veröffentlicht in Orphanet Journal of Rare Diseases (2020-05-01)

The impact of methylome analysis on the diagnosis and treatment of CNS tumours in children and adolescents: A population-based study in Greece

von Maria Filippidou, Stavros Glentis, Ilona Binenbaum, Martin Sill, Kleoniki Roka, Antonia Vlachou, Georgia Avgerinou, Jonas Ecker, Florian Selt, Martin Hasselblatt, Mirjam Blattner-Johnson, Kathrin Schramm, Clio Trougkou, Dimitrios Doganis, Nikolaos Katzilakis, Vita Ridola, Evgenia Papakonstantinou, Vassilios Papadakis, Emmanouel Hatzipantelis, Eleftheria Kokkinou, Roser Pons, Christina Kanaka-Gantenbein, Dominik Sturm, Steffen Hirsch, Nicola Dikow, Kristian W. Pajtler, Cornelis M. van Tilburg, Michael C. Frühwald, Till Milde, Olaf Witt, David T.W. Jones, Andreas Von Deimling, Felix Sahm, Kalliopi Stefanaki, Stefan M. Pfister, Antonis Kattamis
Veröffentlicht in EJC Paediatric Oncology (2024-12-01)

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

von Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)
Veröffentlicht in Orphanet Journal of Rare Diseases (2020-08-01)

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

von Angelica D'Amore, Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Veröffentlicht in Frontiers in Neurology (2018-12-01)