Search Results - "Pons, Roser"

“Deconstructing” upper limb function in dyskinetic cerebral palsy by Pons, Roser, Zoi, Dalivigka

Get full text

Genetic mimics of cerebral palsy by Pearson, Toni S., Pons, Roser, Ghaoui, Roula, Sue, Carolyn M.

“…The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that may present with motor symptoms in early childhood, resulting in a…”
Get full text

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH 4 ) deficiencies by Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S, Sivri, H Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A, Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F, Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M, Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya

“…Tetrahydrobiopterin (BH ) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine…”
Get full text

The spectrum of movement disorders in Glut-1 deficiency by Pons, Roser, Collins, Abbie, Rotstein, Michael, Engelstad, Kristin, De Vivo, Darryl C

“…To assess the spectrum of movement disorders, we reviewed video recordings and charts of 57 patients with Glut‐1 deficiency. Eighty‐nine percent of patients…”
Get full text

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

“…Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion…”
Get full text

Antitumor Effects of Anti-Semaphorin 4D Antibody Unravel a Novel Proinvasive Mechanism of Vascular-Targeting Agents by Zuazo-Gaztelu, Iratxe, Pàez-Ribes, Marta, Carrasco, Patricia, Martín, Laura, Soler, Adriana, Martínez-Lozano, Mar, Pons, Roser, Llena, Judith, Palomero, Luis, Graupera, Mariona, Casanovas, Oriol

“…One of the main consequences of inhibition of neovessel growth and vessel pruning produced by angiogenesis inhibitors is increased intratumor hypoxia. Growing…”
Get full text

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations by Veltra, Danai, Theodorou, Virginia, Katsalouli, Marina, Vorgia, Pelagia, Niotakis, Georgios, Tsaprouni, Triantafyllia, Pons, Roser, Kosma, Konstantina, Kampouraki, Afroditi, Tsoutsou, Irene, Makrythanasis, Periklis, Kekou, Kyriaki, Traeger-Synodinos, Joanne, Sofocleous, Christalena

“…, the gene encoding for the Nav1.1 channel, exhibits dominant interneuron-specific expression, whereby variants disrupting the channel's function affect the…”
Get full text

Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases by Papadimas, George K, Pons, Roser, Palmio, Johanna

Get full text

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children by Nasi, Lamprini, Alexopoulos, Alexios, Kokkinou, Eleftheria, Roka, Kleoniki, Tzetis, Maria, Tsipi, Maria, Kakourou, Talia, Kanaka-Gantenbein, Christina, Chrousos, George, Kattamis, Antonis, Pons, Roser

“…Cafe-au-lait macules are the most distinctive clinical finding in neurofibromatosis type I. The aim of this prospective study of Greek children diagnosed with…”
Get full text

Heart Failure Post-SARS-CoV-2 Infection in Children with Duchenne Muscular Dystrophy: The Additive Value of Cardiovascular Magnetic Resonance by Markousis-Mavrogenis, George, Belegrinos, Antonios, Giannakopoulou, Aikaterini, Karanasios, Evangelos, Vartela, Vasiliki, Patsilinakou, Elephtheria, Samantis, Paul, Pons, Roser-Marie, Papavasiliou, Antigoni, Mavrogeni, Sophie I

“…In this case series, we describe the diagnosis of post-COVID-19 myocarditis in asymptomatic patients with Duchenne Muscular Dystrophy (DMD) and a mild COVID-19…”
Get full text

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

“…An open debate in antiangiogenic therapies is about their consequence on tumor invasiveness and metastasis, which is undoubtedly relevant for patients…”
Get full text

HLA-DRB1 allele impact on pediatric multiple sclerosis in a Hellenic cohort by Gontika, Maria, Skarlis, Charalampos, Artemiadis, Artemios, Pons, Roser, Mastroyianni, Sotiria, Vartzelis, George, Theodorou, Virginia, Kilindireas, Konstantinos, Stefanis, Leonidas, Dalakas, Marinos, Chrousos, George, Anagnostouli, Maria

“…Background Pediatric-onset multiple sclerosis (POMS) is considered a complex disease entity with many genetic and environmental factors implicated in its…”
Get full text

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene by Kekou, Kyriaki, Sofocleous, Christalena, Papadimas, George, Petichakis, Dimitris, Svingou, Maria, Pons, Roser-Maria, Vorgia, Pelagia, Gika, Artemis, Kitsiou-Tzeli, Sophia, Kanavakis, Emmanuel

“…Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic…”
Get full text

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S, Sivri, H Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A, Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F, Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M, Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya

“…An amendment to this paper has been published and can be accessed via the original article…”
Get full text

Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril by Mavrogeni, Sophie, Giannakopoulou, Aikaterini, Papavasiliou, Antigoni, Markousis-Mavrogenis, George, Pons, Roser, Karanasios, Evangelos, Noutsias, Michel, Kolovou, Genovefa, Papadopoulos, George

“…To evaluate cardiovascular function in boys with Duchenne (DMD) and Becker (BMD) muscular dystrophy, using cardiac magnetic resonance (CMR). This is a single…”
Get full text

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

“…Promising genetic treatments targeting the molecular defect of severe early-onset genetic conditions are expected to dramatically improve patients' quality of…”
Get more information

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias by Martínez-Rubio, Dolores, Hinarejos, Isabel, Sancho, Paula, Gorría-Redondo, Nerea, Bernadó-Fonz, Raquel, Tello, Cristina, Marco-Marín, Clara, Martí-Carrera, Itxaso, Martínez-González, María Jesús, García-Ribes, Ainhoa, Baviera-Muñoz, Raquel, Sastre-Bataller, Isabel, Martínez-Torres, Irene, Duat-Rodríguez, Anna, Janeiro, Patrícia, Moreno, Esther, Pías-Peleteiro, Leticia, Gordo, Mar O’Callaghan, Ruiz-Gómez, Ángeles, Muñoz, Esteban, Martí, Maria Josep, Sánchez-Monteagudo, Ana, Fuster, Candela, Andrés-Bordería, Amparo, Pons, Roser Maria, Jesús-Maestre, Silvia, Mir, Pablo, Lupo, Vincenzo, Pérez-Dueñas, Belén, Darling, Alejandra, Aguilera-Albesa, Sergio, Espinós, Carmen

“…Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of…”
Get full text

Mitochondrial DNA abnormalities and autistic spectrum disorders by Pons, Roser, Andreu, Antoni L., Checcarelli, Nicoletta, Vilà, Maya R., Engelstad, Kristin, Sue, Carolyn M., Shungu, Dikoma, Haggerty, Rita, De Vivo, Darryl C., DiMauro, Salvatore

“…To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion. Five patients with autistic…”
Get full text

Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases by Markousis-Mavrogenis, George, Giannakopoulou, Aikaterini, Belegrinos, Antonios, Pons, Maria Roser, Bonou, Maria, Vartela, Vasiliki, Papavasiliou, Antigoni, Christidi, Aikaterini, Kourtidou, Soultana, Kolovou, Genovefa, Bacopoulou, Flora, Chrousos, George P., Mavrogeni, Sophie I.

“…Rare cardiovascular diseases (RCDs) have low incidence but major clinical impact. RCDs’ classification includes Class I—systemic circulation, Class…”
Get full text

Phenotypic expression of a spectrum of Neurofibromatosis Type 1 (NF1) mutations identified through NGS and MLPA by Tsipi, Maria, Poulou, Myrto, Fylaktou, Irene, Kosma, Konstantina, Tsoutsou, Eirini, Pons, Maria-Roser, Kokkinou, Eleftheria, Kitsiou-Tzeli, Sofia, Fryssira, Helen, Tzetis, Maria

“…Neurofibromatosis Type 1 (NF1) is caused by mutations of the NF1 gene. The aim of this study was to identify the genetic causes underlying the disease, attempt…”
Get full text