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The impact of HLA-DRB1 alleles in a Hellenic, Pediatric-Onset Multiple Sclerosis cohort: Implications on clinical and neuroimaging profile.
Published in:
Neurological Sciences, 2024, v. 45, n. 11, p. 5405, doi. 10.1007/s10072-024-07619-0
By:
- Skarlis, Charalampos;
- Markoglou, Nikolaos;
- Gontika, Maria;
- Artemiadis, Artemios;
- Pons, Maria-Roser;
- Stefanis, Leonidas;
- Dalakas, Marinos;
- Chrousos, George;
- Anagnostouli, Maria
Publication type:
Article
Kidney cancer PDOXs reveal patient‐specific pro‐malignant effects of antiangiogenics and its molecular traits.
Published in:
EMBO Molecular Medicine, 2020, v. 12, n. 12, p. 1, doi. 10.15252/emmm.201911889
By:
- Moserle, Lidia;
- Pons, Roser;
- Martínez‐Lozano, Mar;
- Jiménez‐Valerio, Gabriela A;
- Vidal, August;
- Suárez, Cristina;
- Trilla, Enrique;
- Jiménez, José;
- Torres, Inés;
- Carles, Joan;
- Senserrich, Jordi;
- Aguilar, Susana;
- Palomero, Luis;
- Amadori, Alberto;
- Casanovas, Oriol
Publication type:
Article
Upper Limb Function, Kinematic Analysis, and Dystonia Assessment in Children With Spastic Diplegic Cerebral Palsy and Periventricular Leukomalacia.
Published in:
Journal of Child Neurology, 2017, v. 32, p. 936, doi. 10.1177/0883073817722451
By:
- Pons, Roser;
- Vanezis, Athanasios;
- Skouteli, Helen;
- Papavasiliou, Antigoni;
- Tziomaki, Magda;
- Syrengelas, Dimitris;
- Darras, Nikolaos
Publication type:
Article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Published in:
2017
By:
- 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.;
- Wang Tso Lee;
- Kurian, Manju A.;
- Heales, Simon;
- Flint, Lisa;
- Verbeek, Marcel;
- Willemsen, Michèl;
- Opladen, Thomas
Publication type:
journal article
HLA-DRB1 allele impact on pediatric multiple sclerosis in a Hellenic cohort.
Published in:
Multiple Sclerosis Journal - Experimental, Translational & Clinical, 2020, v. 6, n. 1, p. 1, doi. 10.1177/2055217320908046
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
Publication type:
Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
By:
- Hübschmann, Oya Kuseyri;
- Horvath, Gabriella;
- Cortès-Saladelafont, Elisenda;
- Yıldız, Yılmaz;
- Mastrangelo, Mario;
- Pons, Roser;
- Friedman, Jennifer;
- Mercimek-Andrews, Saadet;
- Suet-Na Wong;
- Pearson, Toni S.;
- Zafeiriou, Dimitrios I.;
- Kulhánek, Jan;
- Kurian, Manju A.;
- López-Laso, Eduardo;
- Oppebøen, Mari;
- Kılavuz, Sebile;
- Wassenberg, Tessa;
- Goez, Helly;
- Scholl-Bürgi, Sabine;
- Porta, Francesco
Publication type:
Article
Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
Published in:
Muscle & Nerve, 2024, v. 70, n. 2, p. 240, doi. 10.1002/mus.28180
By:
- Marinakis, Nikolaos M.;
- Svingou, Maria;
- Papadimas, Giorgos‐Konstantinos;
- Papadopoulos, Constantinos;
- Chroni, Elisabeth;
- Pons, Roser;
- Pavlou, Evangelos;
- Sarmas, Ioannis;
- Kosma, Konstantina;
- Apostolou, Paraskevi;
- Sofocleous, Christalena;
- Traeger‐Synodinos, Joanne;
- Kekou, Kyriaki
Publication type:
Article
Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases.
Published in:
Frontiers in Neurology, 2022, p. 1, doi. 10.3389/fneur.2021.835839
By:
- Papadimas, George K.;
- Pons, Roser;
- Palmio, Johanna
Publication type:
Article
Single amino acid loss in the dystrophin protein associated with a mild clinical phenotype.
Published in:
2017
By:
- Pons, Roser;
- Kekou, Kyriaki;
- Gkika, Artemis;
- Papadimas, George;
- Vogiatzakis, Nikolaos;
- Svingou, Maria;
- Papadopooulos, Constantinos;
- Nikas, Ioanis;
- Dinopoulos, Argirios;
- Youroukos, Sotiris;
- Kanavakis, Emmanouel
Publication type:
journal article
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
Published in:
Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 559, doi. 10.1111/dmcn.12116
By:
- Molero‐Luis, Marta;
- Serrano, Mercedes;
- Ormazábal, Aida;
- Pérez‐Dueñas, Belén;
- García‐Cazorla, Àngels;
- Pons, Roser;
- Artuch, Rafael;
- Amartino, Hernan;
- Arrabal, Luisa;
- Campistol, Jaume;
- Casado, Mercedes;
- Castro, Pedro Castro;
- Cormand, Bru;
- Dinopoulos, Argirios;
- Domingo, Rosario;
- Duarte, Sofia T;
- Fernández‐Álvarez, Emilio;
- Desviat, Lourdes R;
- Hegde, Anaita;
- López‐Laso, Eduardo
Publication type:
Article
Cardiovascular Magnetic Resonance Imaging Patterns in Rare Cardiovascular Diseases.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 21, p. 6403, doi. 10.3390/jcm11216403
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.
Publication type:
Article
The Emerging Role of Combined Brain/Heart Magnetic Resonance Imaging for the Evaluation of Brain/Heart Interaction in Heart Failure.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4009, doi. 10.3390/jcm11144009
By:
- 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
Publication type:
Article
Synthesis, X‐ray characterization and density functional theory studies of N6‐benzyl‐N6‐methyladenine–M(II) complexes (M = Zn, Cd): The prominent role of π–π, C–H···π and anion–π interactions
Published in:
Applied Organometallic Chemistry, 2019, v. 33, n. 6, p. N.PAG, doi. 10.1002/aoc.4906
By:
- Pons, Roser;
- Ibáñez, Cristina;
- Buades, Ana B.;
- Franconetti, Antonio;
- Garcia‐Raso, Angel;
- Fiol, Juan J.;
- Terrón, Angel;
- Molins, Elies;
- Frontera, Antonio
Publication type:
Article
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
Published in:
Epilepsia Open, 2020, v. 5, n. 3, p. 354, doi. 10.1002/epi4.12414
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.
Publication type:
Article
Alberta Infant Motor Scale (AIMS) Performance of Greek Preterm Infants: Comparisons With Full-Term Infants of the Same Nationality and Impact of Prematurity-Related Morbidity Factors.
Published in:
Physical Therapy, 2016, v. 96, n. 7, p. 1102, doi. 10.2522/ptj.20140494
By:
- Syrengelas, Dimitrios;
- Kalampoki, Vassiliki;
- Kleisiouni, Paraskevi;
- Manta, Vassiliki;
- Mellos, Stavros;
- Pons, Roser;
- Chrousos, George P.;
- Siahanidou, Tania
Publication type:
Article
Heart Failure Post-SARS-CoV-2 Infection in Children with Duchenne Muscular Dystrophy: The Additive Value of Cardiovascular Magnetic Resonance.
Published in:
Children, 2023, v. 10, n. 5, p. 894, doi. 10.3390/children10050894
By:
- Markousis-Mavrogenis, George;
- Belegrinos, Antonios;
- Giannakopoulou, Aikaterini;
- Karanasios, Evangelos;
- Vartela, Vasiliki;
- Patsilinakou, Elephtheria;
- Samantis, Paul;
- Pons, Roser-Marie;
- Papavasiliou, Antigoni;
- Mavrogeni, Sophie I.
Publication type:
Article
Pathophysiology of cognitive dysfunction and the role of combined brain/heart magnetic resonance imaging (Review).
Published in:
Experimental & Therapeutic Medicine, 2022, v. 24, n. 3, p. N.PAG
By:
- Markousis-Mavrogenis, George;
- Bacopoulou, Flora;
- Kolovou, Genovefa;
- Pons, Maria-Roser;
- Giannakopoulou, Aikaterini;
- Papavasiliou, Antigoni;
- Kitas, George D.;
- Chrousos, George P.;
- Mavrogeni, Sophie I.
Publication type:
Article
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children.
Published in:
Acta Dermato-Venereologica, 2023, v. 103, p. 1, doi. 10.2340/actadv.v103.5758
By:
- NASI, Lamprini;
- ALEXOPOULOS, Alexios;
- KOKKINOU, Eleftheria;
- ROKA, Kleoniki;
- TZETIS, Maria;
- TSIPI, Maria;
- KAKOUROU, Talia;
- KANAKA-GANTENBEIN, Christina;
- CHROUSOS, George;
- KATTAMIS, Antonis;
- PONS, Roser
Publication type:
Article
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations.
Published in:
Acta Dermato-Venereologica, 2019, v. 99, n. 13, p. 1309, doi. 10.2340/00015555-3317
By:
- VALARI, Manthoula;
- THEODORAKI, Martha;
- LOUKAS, Ierotheos;
- GKANTSEVA-PATSOURA, Sylvia;
- KARAVANA, Georgia;
- FALAINA, Vasiliki;
- LYKOPOULOU, Lilia;
- PONS, Roser;
- ATHANASIOU, Ioannis;
- WERTHEIM-TYSAROWSKA, Katarzyna;
- KANAKA-GANTENBEIN, Christina;
- KIRITSI, Dimitra
Publication type:
Article
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Published in:
2020
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
Publication type:
journal article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Published in:
2020
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
Publication type:
journal article
A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Published in:
Journal of Neurology, 2016, v. 263, n. 8, p. 1604, doi. 10.1007/s00415-016-8179-z
By:
- Polymeris, Alexandros;
- Tessa, Alessandra;
- Anagnostopoulou, Katherine;
- Rubegni, Anna;
- Galatolo, Daniele;
- Dinopoulos, Argirios;
- Gika, Artemis;
- Youroukos, Sotiris;
- Skouteli, Eleni;
- Santorelli, Filippo;
- Pons, Roser
Publication type:
Article
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
By:
- Julia‐Palacios, Natalia Alexandra;
- Kuseyri Hübschmann, Oya;
- Olivella, Mireia;
- Pons, Roser;
- Horvath, Gabriella;
- Lücke, Thomas;
- Fung, Cheuk‐Wing;
- Wong, Suet‐Na;
- Cortès‐Saladelafont, Elisenda;
- Rovira‐Remisa, M. Mar;
- Yıldız, Yılmaz;
- Mercimek‐Andrews, Saadet;
- Assmann, Birgit;
- Stevanović, Galina;
- Manti, Filippo;
- Brennenstuhl, Heiko;
- Jung‐Klawitter, Sabine;
- Jeltsch, Kathrin;
- Sivri, H. Serap;
- Garbade, Sven F.
Publication type:
Article
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
By:
- Yıldız, Yılmaz;
- Kuseyri Hübschmann, Oya;
- Akgöz Karaosmanoğlu, Ayça;
- Manti, Filippo;
- Karaca, Meryem;
- Schwartz, Ida Vanessa D.;
- Pons, Roser;
- López‐Laso, Eduardo;
- Palacios, Natalia Alexandra Julia;
- Porta, Francesco;
- Kavecan, Ivana;
- Balcı, Mehmet Cihan;
- Dy‐Hollins, Marisela E.;
- Wong, Suet‐Na;
- Oppebøen, Mari;
- Medeiros, Leonardo Simão;
- de Paula, Leila Cristina Pedroso;
- García‐Cazorla, Angeles;
- Hoffmann, Georg F.;
- Jeltsch, Kathrin
Publication type:
Article
Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 463, doi. 10.1002/jimd.12649
By:
- Roubertie, Agathe;
- Opladen, Thomas;
- Brennenstuhl, Heiko;
- Kuseyri Hübschmann, Oya;
- Flint, Lisa;
- Willemsen, Michel A.;
- Leuzzi, Vincenzo;
- Cazorla, Angels Garcia;
- Kurian, Manju A.;
- François‐Heude, Marie Céline;
- Hwu, Paul;
- Zeev, Bruria Ben;
- Kiening, Karl;
- Roujeau, Thomas;
- Pons, Roser;
- Pearson, Toni S.
Publication type:
Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
By:
- Keller, Mareike;
- Brennenstuhl, Heiko;
- Kuseyri Hübschmann, Oya;
- Manti, Filippo;
- Julia Palacios, Natalia Alexandra;
- Friedman, Jennifer;
- Yıldız, Yılmaz;
- Koht, Jeanette Aimee;
- Wong, Suet‐Na;
- Zafeiriou, Dimitrios I.;
- López‐Laso, Eduardo;
- Pons, Roser;
- Kulhánek, Jan;
- Jeltsch, Kathrin;
- Serrano‐Lomelin, Jesus;
- Garbade, Sven F.;
- Opladen, Thomas;
- Goez, Helly;
- Burlina, Alberto;
- Cortès‐Saladelafont, Elisenda
Publication type:
Article
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1070, doi. 10.1002/jimd.12360
By:
- Kuseyri Hübschmann, Oya;
- Mohr, Alexander;
- Friedman, Jennifer;
- Manti, Filippo;
- Horvath, Gabriella;
- Cortès‐Saladelafont, Elisenda;
- Mercimek‐Andrews, Saadet;
- Yildiz, Yilmaz;
- Pons, Roser;
- Kulhánek, Jan;
- Oppebøen, Mari;
- Koht, Jeanette Aimee;
- Podzamczer‐Valls, Inés;
- Domingo‐Jimenez, Rosario;
- Ibáñez, Salvador;
- Alcoverro‐Fortuny, Oscar;
- Gómez‐Alemany, Teresa;
- Castro, Pedro;
- Alfonsi, Chiara;
- Zafeiriou, Dimitrios I.
Publication type:
Article
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288
By:
- Marti‐Sanchez, Laura;
- Baide‐Mairena, Heidy;
- Marcé‐Grau, Anna;
- Pons, Roser;
- Skouma, Anastasia;
- López‐Laso, Eduardo;
- Sigatullina, Maria;
- Rizzo, Cristiano;
- Semeraro, Michela;
- Martinelli, Diego;
- Carrozzo, Rosalba;
- Dionisi‐Vici, Carlo;
- González‐Gutiérrez‐Solana, Luis;
- Correa‐Vela, Marta;
- Ortigoza‐Escobar, Juan Dario;
- Sánchez‐Montañez, Ángel;
- Vazquez, Élida;
- Delgado, Ignacio;
- Aguilera‐Albesa, Sergio;
- Yoldi, María Eugenia
Publication type:
Article
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1121, doi. 10.1002/jimd.12247
By:
- 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
Publication type:
Article
Natalizumab therapy in patients with pediatric-onset multiple sclerosis in Greece: clinical and immunological insights of time-long administration and future directions—a single-center retrospective observational study.
Published in:
Naunyn-Schmiedeberg's Archives of Pharmacology, 2022, v. 395, n. 8, p. 933, doi. 10.1007/s00210-022-02238-y
By:
- Gontika, Maria;
- Skarlis, Charalampos;
- Markoglou, Nikolaos;
- Tzanetakos, Dimitrios;
- Vakrakou, Aglaia;
- Toulas, Panagiotis;
- Koutsis, George;
- Evangelopoulos, Maria-Eleptheria;
- Pons, Roser;
- Dardiotis, Efthymios;
- Chrousos, George;
- Dalakas, Marinos;
- Stefanis, Leonidas;
- Anagnostouli, Maria
Publication type:
Article
Brain and heart magnetic resonance imaging/spectroscopy in duchenne muscular dystrophy.
Published in:
European Journal of Clinical Investigation, 2017, v. 47, n. 12, p. n/a, doi. 10.1111/eci.12842
By:
- Mavrogeni, Sophie;
- Pons, Roser;
- Nikas, Ioannis;
- Papadopoulos, George;
- Verganelakis, Dimitrios A.;
- Kolovou, Genovefa;
- Chrousos, George P.
Publication type:
Article
Oedema-fibrosis in Duchenne Muscular Dystrophy: Role of cardiovascular magnetic resonance imaging.
Published in:
European Journal of Clinical Investigation, 2017, v. 47, n. 12, p. n/a, doi. 10.1111/eci.12843
By:
- Mavrogeni, Sophie;
- Papavasiliou, Antigoni;
- Giannakopoulou, Katerina;
- Markousis‐Mavrogenis, George;
- Pons, Maria Roser;
- Karanasios, Evangelos;
- Nikas, Ioannis;
- Papadopoulos, George;
- Kolovou, Genovefa;
- Chrousos, George P.
Publication type:
Article
Ischemic stroke in a pediatric patient with very rare coexistence of sickle‐cell/β‐thalassemia and neurofibromatosis type 1.
Published in:
Pediatric Blood & Cancer, 2023, v. 70, n. 9, p. 1, doi. 10.1002/pbc.30364
By:
- Roka, Kleoniki;
- Solomou, Elena;
- Glentis, Stavros;
- Gavra, Maria;
- Kokkinou, Eleftheria;
- Rigatou, Efthymia;
- Pons, Roser;
- Kattamis, Antonis
Publication type:
Article
Delayed-onset severe neurotoxicity related to blinatumomab in an adolescent patient with refractory acute lymphoblastic leukemia.
Published in:
2021
By:
- Filippidou, Maria;
- Avgerinou, Georgia;
- Katsibardi, Katerina;
- Gavra, Maria;
- Pons, Roser;
- Kattamis, Antonis
Publication type:
Case Study
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Published in:
Movement Disorders, 2021, v. 36, n. 3, p. 690, doi. 10.1002/mds.28362
By:
- Tristán‐Noguero, Alba;
- Borràs, Eva;
- Molero‐Luis, Marta;
- Wassenberg, Tessa;
- Peters, Tessa;
- Verbeek, Marcel M.;
- Willemsen, Michel;
- Opladen, Thomas;
- Jeltsch, Kathrin;
- Pons, Roser;
- Thony, Beat;
- Horvath, Gabriella;
- Yapici, Zuhal;
- Friedman, Jennifer;
- Hyland, Keith;
- Agosta, Guillermo E.;
- López‐Laso, Eduardo;
- Artuch, Rafael;
- Sabidó, Eduard;
- García‐Cazorla, Àngels
Publication type:
Article
Genetic mimics of cerebral palsy.
Published in:
2019
By:
- Pearson, Toni S.;
- Pons, Roser;
- Ghaoui, Roula;
- Sue, Carolyn M.
Publication type:
journal article
Primary and Secondary Carnitine Deficiency Syndromes.
Published in:
Journal of Child Neurology, 1995, v. 10, n. 2S, p. 2S8, doi. 10.1177/088307389501000203
By:
- Pons, Roser;
- De Vivo, Darryl C.
Publication type:
Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Published in:
Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085
By:
- Iacobazzi, Vito;
- Invernizzi, Federica;
- Baratta, Silvia;
- Pons, Roser;
- Chung, Wendy;
- Garavaglia, Barbara;
- Dionisi-Vici, Carlo;
- Ribes, Antonia;
- Parini, Rossella;
- Huertas, Maria Dolores;
- Roldan, Susana;
- Lauria, Graziantonio;
- Palmieri, Ferdinando;
- Taroni, Franco
Publication type:
Article
A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
Published in:
Genes, 2023, v. 14, n. 7, p. 1333, doi. 10.3390/genes14071333
By:
- Vittas, Spiros;
- Bisba, Maria;
- Christopoulou, Georgia;
- Apostolakopoulou, Loukia;
- Pons, Roser;
- Constantoulakis, Pantelis
Publication type:
Article
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 11, p. 5644, doi. 10.3390/ijms25115644
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
Publication type:
Article
Cardiac profile of asymptomatic children with Becker and Duchenne muscular dystrophy under treatment with steroids and with/without perindopril.
Published in:
2017
By:
- Mavrogeni, Sophie;
- Giannakopoulou, Aikaterini;
- Papavasiliou, Antigoni;
- Markousis-Mavrogenis, George;
- Pons, Roser;
- Karanasios, Evangelos;
- Noutsias, Michel;
- Kolovou, Genovefa;
- Papadopoulos, George
Publication type:
journal article
Analysis of a founder mutation in the TH gene in a cohort of greek patients with Parkinson's disease.
Published in:
2016
By:
- Pons, Roser;
- Kekou, Kyriaki;
- Antonellou, Roubina;
- Svingou, Maria;
- Kanavakis, Emmanouel;
- Stefanis, Leonidas
Publication type:
Letter
Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency.
Published in:
Movement Disorders, 2013, v. 28, n. 8, p. 1058, doi. 10.1002/mds.25382
By:
- Pons, Roser;
- Syrengelas, Dimitris;
- Youroukos, Sotiris;
- Orfanou, Irene;
- Dinopoulos, Arqirios;
- Cormand, Bru;
- Ormazabal, Aida;
- Garzía‐Cazorla, Angels;
- Serrano, Mercedes;
- Artuch, Rafael
Publication type:
Article
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
Published in:
Movement Disorders, 2010, v. 25, n. 8, p. 1086, doi. 10.1002/mds.23002
By:
- Pons, Roser;
- Serrano, Mercedes;
- Ormazabal, Aida;
- Toma, Claudio;
- Garcia-Cazorla, Angels;
- Area, Estela;
- Ribasés, Marta;
- Kanavakis, Emmanuel;
- Drakaki, Kaliopi;
- Giannakopoulos, Aristotelis;
- Orfanou, Irene;
- Youroukos, Sotiris;
- Cormand, Bru;
- Artuch, Rafael
Publication type:
Article
The spectrum of movement disorders in Glut-1 deficiency.
Published in:
Movement Disorders, 2010, v. 25, n. 3, p. 275, doi. 10.1002/mds.22808
By:
- Pons, Roser;
- Collins, Abbie;
- Rotstein, Michael;
- Engelstad, Kristin;
- De Vivo, Darryl C
Publication type:
Article
Translation, reliability and validity of the Greek version of the Child Engagement in Daily Life in children with cerebral palsy.
Published in:
Child: Care, Health & Development, 2024, v. 50, n. 1, p. 1, doi. 10.1111/cch.13202
By:
- Dimakopoulos, Rigas;
- Papadopoulou, Μarianna;
- Pons, Roser;
- Spinou, Arietta
Publication type:
Article

Found: 46