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

por Papadimas, George K., Pons, Roser, Palmio, Johanna
Publicado 2022

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

por Vittas, Spiros, Bisba, Maria, Christopoulou, Georgia, Apostolakopoulou, Loukia, Pons, Roser, Constantoulakis, Pantelis
Publicado 2023

Paroxysmal eye–head movements in Glut1 deficiency syndrome

por Pearson, Toni S., Pons, Roser, Engelstad, Kristin, Kane, Steven A., Goldberg, Michael E., De Vivo, Darryl C.
Publicado 2017

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

por Mavrogeni, Sophie, Giannakopoulou, Aikaterini, Papavasiliou, Antigoni, Markousis-Mavrogenis, George, Pons, Roser, Karanasios, Evangelos, Noutsias, Michel, Kolovou, Genovefa, Papadopoulos, George
Publicado 2017

NFB-15. "Cognitive Impairments in Children and Adolescents with Neurofibromatosis"

por Mavrea, Kalliopi, Kokkinou, Eleftheria, Roka, Kleoniki, Tsiorou, Stavroula, Deligeorges, Danae, Kanaka-Gantenbein, Christina, Bacopoulou, Flora, Pons, Roser, Kattamis, Antonis
Publicado 2022

Heart Failure Post-SARS-CoV-2 Infection in Children with Duchenne Muscular Dystrophy: The Additive Value of Cardiovascular Magnetic Resonance

por Markousis-Mavrogenis, George, Belegrinos, Antonios, Giannakopoulou, Aikaterini, Karanasios, Evangelos, Vartela, Vasiliki, Patsilinakou, Elephtheria, Samantis, Paul, Pons, Roser-Marie, Papavasiliou, Antigoni, Mavrogeni, Sophie I.
Publicado 2023

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

por NASI, Lamprini, ALEXOPOULOS, Alexios, KOKKINOU, Eleftheria, ROKA, Kleoniki, TZETIS, Maria, TSIPI, Maria, KAKOUROU, Talia, KANAKA-GANTENBEIN, Christina, CHROUSOS, George, KATTAMIS, Antonis, PONS, Roser
Publicado 2023

HLA-DRB1 allele impact on pediatric multiple sclerosis in a Hellenic cohort

por Gontika, Maria, Skarlis, Charalampos, Artemiadis, Artemios, Pons, Roser, Mastroyianni, Sotiria, Vartzelis, George, Theodorou, Virginia, Kilindireas, Konstantinos, Stefanis, Leonidas, Dalakas, Marinos, Chrousos, George, Anagnostouli, Maria
Publicado 2020

HGG-53. "Profile of High Grade Gliomas and Diffuse Intrinsic Pontine Gliomas in Greek Pediatric Patients: an 8-year Single Institution's experience"

por Roka, Kleoniki, Filippidou, Maria, Vlachou, Antonia, Gavra, Maria, Panagopoulos, Dimitrios, Markogiannakis, Georgios, Kokkinou, Eleftheria, Alexopoulou, Aikaterini, Chasiotou, Maria, Sfakianos, Georgios, Pons, Roser, Stefanaki, Kalliopi, Kattamis, Antonis
Publicado 2022

NFB-17. "Optic Pathway findings in children with Neurofibromatosis type-1 (NF-1)

por Roka, Kleoniki, Kokkinou, Eleftheria, Gavra, Maria, Tsina, Efthymia, Mparka, Konstantina, Zarafonitis, Georgios, Kosma, Konstantina, Makrythanasis, Periklis, Tzetis, Maria, Chasiotou, Maria, Kanaka-Gantenbein, Christina, Pons, Roser, Kattamis, Antonis
Publicado 2022

The Emerging Role of Combined Brain/Heart Magnetic Resonance Imaging for the Evaluation of Brain/Heart Interaction in Heart Failure

por Markousis-Mavrogenis, George, Noutsias, Michel, Rigopoulos, Angelos G., Giannakopoulou, Aikaterini, Gatzonis, Stergios, Pons, Roser Maria, Papavasiliou, Antigoni, Vartela, Vasiliki, Bonou, Maria, Kolovou, Genovefa, Aggeli, Constantina, Christidi, Aikaterini, Bacopoulou, Flora, Tousoulis, Dimitris, Mavrogeni, Sophie
Publicado 2022

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

por Moserle, Lidia, Pons, Roser, Martínez‐Lozano, Mar, Jiménez‐Valerio, Gabriela A, Vidal, August, Suárez, Cristina, Trilla, Enrique, Jiménez, José, de Torres, Inés, Carles, Joan, Senserrich, Jordi, Aguilar, Susana, Palomero, Luis, Amadori, Alberto, Casanovas, Oriol
Publicado 2020

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

por Carreño, Oriel, Corominas, Roser, Serra, Selma Angèlica, Sintas, Cèlia, Fernández-Castillo, Noèlia, Vila-Pueyo, Marta, Toma, Claudio, Gené, Gemma G, Pons, Roser, Llaneza, Miguel, Sobrido, María-Jesús, Grinberg, Daniel, Valverde, Miguel Ángel, Fernández-Fernández, José Manuel, Macaya, Alfons, Cormand, Bru
Publicado 2013

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado 2016

ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

por Carecchio, Miryam, Mencacci, Niccolò E., Iodice, Alessandro, Pons, Roser, Panteghini, Celeste, Zorzi, Giovanna, Zibordi, Federica, Bonakis, Anastasios, Dinopoulos, Argyris, Jankovic, Joseph, Stefanis, Leonidas, Bhatia, Kailash P., Monti, Valentina, R'Bibo, Lea, Veneziano, Liana, Garavaglia, Barbara, Fusco, Carlo, Wood, Nicholas, Stamelou, Maria, Nardocci, Nardo
Publicado 2017

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

por Batllori, Marta, Molero-Luis, Marta, Arrabal, Luisa, Heras, Javier de las, Fernandez-Ramos, Joaquín-Alejandro, Gutiérrez-Solana, Luis González, Ibáñez-Micó, Salvador, Domingo, Rosario, Campistol, Jaume, Ormazabal, Aida, Sedel, Frederic, Opladen, Thomas, Zouvelou, Basiliki, Pons, Roser, Garcia-Cazorla, Angels, Lopez-Laso, Eduardo, Artuch, Rafael
Publicado 2017

AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients

por Pearson, Toni S., Gilbert, Laura, Opladen, Thomas, Garcia‐Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K. H., Sykut‐Cegielska, Jolanta, Pons, Roser, Mercimek‐Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A., Steel, Dora, Manti, Filippo, Meeks, Kathleen D., Jeltsch, Kathrin, Flint, Lisa
Publicado 2020

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

por Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Publicado 2017

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

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

Evaluation of Genotypes and Epidemiology of Spinal Muscular Atrophy in Greece: A Nationwide Study Spanning 24 Years

por Kekou, Kyriaki, Svingou, Maria, Sofocleous, Christalena, Mourtzi, Niki, Nitsa, Evangelia, Konstantinidis, George, Youroukos, Sotiris, Skiadas, Konstantinos, Katsalouli, Marina, Pons, Roser, Papavasiliou, Antigoni, Kotsalis, Charalabos, Pavlou, Evangelos, Evangeliou, Athanasios, Katsarou, Efstathia, Voudris, Konstantinos, Dinopoulos, Argirios, Vorgia, Pelagia, Niotakis, George, Diamantopoulos, Nikolaos, Nakou, Iliada, Koute, Vasiliki, Vartzelis, George, Papadimas, George-Konstantinos, Papadopoulos, Constantinos, Tsivgoulis, Georgios, Traeger-Synodinos, Joanne
Publicado 2020