Results overview: Found 10 records in 0.02 seconds.
Articles, 10 records found
Articles 10 records found  
1.
11 p, 2.7 MB Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration / Sancho, Paula (Centro de Investigación Príncipe Felipe (València)) ; Andrés-Bordería, Amparo (Universitat de València) ; Gorría-Redondo, Nerea (Complejo Hospitalario de Navarra) ; Llano, Katia (Complejo Hospitalario de Navarra) ; Martínez-Rubio, Dolores (Centro de Investigación Príncipe Felipe (València)) ; Yoldi-Petri, María Eugenia (Complejo Hospitalario de Navarra) ; Blumkin, Luba (Tel-Aviv University) ; Rodríguez de la Fuente, Pablo (Complejo Hospitalario de Navarra) ; Gil-Ortiz, Fernando (CELLS-ALBA Synchrotron Light Source (Barcelona)) ; Fernández-Murga, Leonor (Hospital Arnau de Vilanova (Lleida, Catalunya)) ; Sánchez-Monteagudo, Ana (Centro de Investigación Príncipe Felipe (València)) ; Lupo, Vincenzo (Centro de Investigación Príncipe Felipe (València)) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Espinós, Carmen (Centro de Investigación Príncipe Felipe (València)) ; Aguilera-Albesa, Sergio (Navarrabiomed-Fundación Miguel Servet) ; Universitat Autònoma de Barcelona
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that of autosomal dominant classical spinocerebellar ataxia type 5 (SCA5). [...]
2021 - 10.3390/ijms22052505
International journal of molecular sciences, Vol. 22 (march 2021)  
2.
23 p, 1.3 MB Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders / Mohammad, Shekeeb S. (University of Sydney) ; Angiti, Rajeshwar Reddy (Liverpool Hospital) ; Biggin, Andrew (University of Sydney) ; Morales-Briceño, Hugo (Westmead Hospital) ; Goetti, Robert (University of Sydney) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Gregory, Allison (Oregon Health & Science University) ; Hogarth, Penelope (Oregon Health & Science University) ; Ng, Joanne (UCL-Institute of Child Health) ; Papandreou, Apostolos (UCL-Institute of Child Health) ; Bhattacharya, Kaustuv (University of Sydney) ; Rahman, Shamima (University College London and Metabolic Unit) ; Prelog, Kristina (University of Sydney) ; Webster, Richard I (TY Nelson Department of Neurology and Neurosurgery, The Children's Hospital at Westmead) ; Wassmer, Evangeline (Birmingham Children's Hospital) ; Hayflick, Susan (Oregon Health & Science University) ; Livingston, John (University of Leeds) ; Kurian, Manju (UCL-Institute of Child Health) ; Chong, W. Kling (Great Ormond Street Hospital for Children (Londres)) ; Dale, Russell C. (University of Sydney) ; Universitat Autònoma de Barcelona
Bilateral basal ganglia abnormalities on MRI are observed in a wide variety of childhood disorders. MRI pattern recognition can enable rationalization of investigations and also complement clinical and molecular findings, particularly confirming genomic findings and also enabling new gene discovery. [...]
2020 - 10.1093/braincomms/fcaa178
Brain Communications, Vol. 2 (october 2020)  
3.
21 p, 2.5 MB Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG) : Evidence for Hypoglycosylation-Driven Channelopathy / Izquierdo-Serra, Mercè (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Martínez-Monseny, Antonio F. (Hospital Sant Joan de Déu (Manresa)) ; López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Carrillo-García, Julia (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Edo, Albert (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Ortigoza-Escobar, Juan Darío (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García, Óscar (Hospital Virgen de la Salud (Toledo)) ; Cancho-Candela, Ramón (Hospital Universitario Río Hortega (Valladolid)) ; Carrasco-Marina, M. Llanos (Hospital Universitario Severo Ochoa) ; Gutiérrez-Solana, Luis G. (Hospital Infantil Universitario Niño Jesús (Madrid)) ; Cuadras, Daniel (Fundació Sant Joan de Déu) ; Muchart, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Montero, Raquel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Artuch, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández-Fernández, José M. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ; Serrano, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding Ca2. [...]
2018 - 10.3390/ijms19020619
International journal of molecular sciences, Vol. 19 (february 2018)  
4.
14 p, 7.0 MB Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia / Baz-Redón, Noelia (Universitat Autònoma de Barcelona. Departament de Pediatria, Obstetrícia i Ginecologia i Medicina Preventiva i Salut Pública) ; Rovira-Amigo, Sandra (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Fernández Cancio, Mónica (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Castillo-Corullón, Silvia (Hospital Clínic Universitari (València)) ; Cols, Maria (Hospital Sant Joan de Déu (Manresa)) ; Caballero-Rabasco, M. Araceli (Hospital del Mar (Barcelona, Catalunya)) ; Asensio, Óscar (Parc Taulí Hospital Universitari) ; Martín de Vicente, Carlos (Hospital Universitario Miguel Servet (Saragossa)) ; Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Torrent-Vernetta, Alba (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; de Mir-Messa, Inés (Hospital Universitari Vall d'Hebron) ; Gartner, Silvia (Hospital Universitari Vall d'Hebron) ; Iglesias-Serrano, Ignacio (Hospital Universitari Vall d'Hebron) ; Díez-Izquierdo, Ana (Hospital Universitari Vall d'Hebron) ; Polverino, Eva (Hospital Universitari Vall d'Hebron) ; Amengual-Pieras, Esther (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ; Amaro-Rodríguez, Rosanel (Hospital Clínic i Provincial de Barcelona) ; Vendrell, Montserrat (Centro de Investigación Biomédica en Red de Enfermedades Respiratorias) ; Mumany, Marta (Consorci Sanitari de Terrassa) ; Pascual-Sánchez, María Teresa (Hospital Universitari Sant Joan de Reus (Tarragona)) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Reula, Ana (D Universitat de Valencia) ; Escribano, Amparo (Instituto de Investigación Sanitaria INCLIVA (València)) ; Dasí, Francisco (Instituto de Investigación Sanitaria INCLIVA (València)) ; Armengot-Carceller, Miguel (Hospital Universitari i Politècnic La Fe de València) ; Garrido-Pontnou, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Camats Tarruella, Núria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Moreno Galdó, Antonio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by an alteration of ciliary structure. Immunofluorescence, consisting in the detection of the presence and distribution of cilia proteins in human respiratory cells by fluorescence, has been recently proposed as a technique to improve understanding of disease-causing genes and diagnosis rate in PCD. [...]
2020 - 10.3390/jcm9113603
Journal of clinical medicine, Vol. 9 (november 2020)  
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7 p, 439.8 KB The European Reference Network for Rare Neurological Diseases / Reinhard, Carola (University Hospital of Tübingen (Alemanya)) ; Bachoud-Lévi, Anne-Catherine (Henri Mondor-Albert Chenevier Hospital) ; Bäumer, Tobias (University of Lübeck) ; Bertini, Enrico (Bambino Gesù Children's Hospital-IRCCS) ; Brunelle, Alicia (University Hospital Tübingen) ; Buizer, Annemieke I. (Amsterdam Movement Sciences and Emma Children's Hospital) ; Federico, Antonio (University of Siena) ; Gasser, Thomas (German Center for Neurodegenerative Diseases) ; Groeschel, Samuel (University Children's Hospital) ; Hermanns, Sanja (University Hospital Tübingen) ; Klockgether, Thomas (University Hospital Bonn (Bonn, Alemanya)) ; Krägeloh-Mann, Ingeborg (University Children's Hospital) ; Landwehrmeyer, G. Bernhard (University of Ulm) ; Leber, Isabelle (AP-HP - Hôpital Pitié-Salpêtrière) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Mariotti, Caterina (Unit of Medical Genetics and Neurogenetics, Fondazione Instituto de Ricovero e Cura a Carattere Scientifico Istituto Neurologico Carlo Besta) ; Meissner, Wassilios G. (Department of Medicine, University of Otago, New Zealand Brain Research Institute) ; Molnar, Maria Judit (Institute of Genomic Medicine and Rare Disorders, Semmelweis University) ; Nonnekes, Jorik (Department of Rehabilitation, Centre of Expertise for Parkinson and Movement Disorders, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre) ; Ortigoza Escobar, Juan Dario (Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, and Centro de Investigación Biomédica en Red de Enfermedades Raras Instituto de Salud Carlos III (CIBERER-ISCIII)) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Renna Linton, Lori (EuroHSP (França)) ; Schöls, Ludger (University of Tübingen) ; Schuele, Rebecca (University of Tübingen) ; Tijssen, Marina A. J. (University of Groningen) ; Vandenberghe, Rik (Katholieke Universiteit Leuven) ; Volkmer, Anna (University College London Hospitals National Health System Foundation Trust National Hospital for Neurology and Neurosurgery) ; Wolf, Nicole I. (Emma Children's Hospital) ; Graessner, Holm (University Hospital Tübingen) ; Universitat Autònoma de Barcelona
While rare diseases (RDs) are by definition of low prevalence, the total number of patients suffering from an RD is high, and the majority of them have neurologic manifestations, involving central, peripheral nerve, and muscle. [...]
2021 - 10.3389/fneur.2020.616569
Frontiers in neurology, Vol. 11 (january 2021)  
6.
795.1 KB Genetic and phenotypic spectrum associated with IFIH1 gain-of-function / Rice, Gillian I. (University of Manchester) ; Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ; Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ; Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ; Eyck, Lien Van (Institut Imagine (Paris, França)) ; Seabra, Luis (Institut Imagine (Paris, França)) ; Barrea, Christophe (Université de Liège) ; Battini, Roberta (IRCCS Fondazione Stella Maris) ; Belot, Alexandre (Université de Lyon) ; Berg, Stefan (The Queen Silvia Children's Hospital) ; de Villemeur, Thierry Billette (Sorbonne Université) ; Bley, Annette E. (University Children's Hospital) ; Blumkin, Lubov (Tel-Aviv University) ; Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ; Briggs, Tracy A. (St Mary's Hospital) ; Brimble, Elise (Stanford University School of Medicine) ; Dale, Russell C. (University of Sydney) ; Darin, Niklas (The Queen Silvia Children's Hospital) ; Debray, François-Guillaume (Université de Liège) ; De Giorgis, Valentina (IRCCS Mondino Foundation) ; Denecke, Jonas (University Medical Center Hamburg Eppendorf) ; Doummar, Diane (Hôpital Armand Trousseau (París, França)) ; Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ; Eleftheriou, Despina (University College London (UCL)) ; Estienne, Margherita (Istituto Neurologico Carlo Besta) ; Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ; Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ; Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ; Hartog, Nicholas (Michigan State University College of Human Medicine) ; Harvengt, Julie (University of Liège. Department of Medical Genetics) ; Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ; Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ; Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ; Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ; Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ; Marti, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ; Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ; Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ; Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ; Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ; Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ; Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ; Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ; Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ; Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe de València) ; Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ; Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ; Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ; Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ; Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Zuberi, Sameer M. (University of Glasgow. School of Medicine) ; Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ; Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ; Universitat Autònoma de Barcelona
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. [...]
2020 - 10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849  
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3 p, 169.2 KB NR4A2 Mutations Can Cause Intellectual Disability and Language Impairment With Persistent Dystonia-Parkinsonism / Jesús, Silvia (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Hinarejos, Isabel (Centro de Investigación Príncipe Felipe (València)) ; Carrillo, Fátima (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Martínez-Rubio, Dolores (Centro de Investigación Príncipe Felipe (València)) ; Macías-García, Daniel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Sánchez-Monteagudo, Ana (Centro de Investigación Príncipe Felipe (València)) ; Adarmes-Gómez, A. D. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Lupo, Vincenzo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Mir, Pablo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Espinós, Carmen (Centro de Investigación Príncipe Felipe (València))
TheNR4A2/NURR1gene (MIM*601828) has recently been associated with autosomal-dominantearly-onset dystonia-parkinsonism with intellectual disability. 1NR4A2codifies for a nuclear tran-scription factor and is expressed mainly in the substantia nigra, ventral tegmental area, and limbicareas. [...]
2021 - 10.1212/NXG.0000000000000543
Neurology: Genetics, Vol. 7 (january 2021)  
8.
7 p, 396.4 KB Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect / Correa-Vela, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Lupo, Vincenzo (Centro de Investigación Príncipe Felipe (València)) ; Montpeyó, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sancho, Paula (Centro de Investigación Príncipe Felipe (València)) ; Marcé-Grau, Anna (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hernández-Vara, Jorge (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Darling, Alejandra (Hospital Sant Joan de Déu (Manresa)) ; Jenkins, Alison (Centro de Investigación Príncipe Felipe (València)) ; Fernández-Rodríguez, Sandra (Centro de Investigación Príncipe Felipe (València)) ; Tello, Cristina (Centro de Investigación Príncipe Felipe (València)) ; Ramírez-Jiménez, Laura (Centro de Investigación Príncipe Felipe (València)) ; Pérez, Belén (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ; Sánchez-Montáñez, Ángel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona) ; Sobrido, María J. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Martinez-Vicente, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Pérez-Dueñas, Belén (Universitat Autònoma de Barcelona) ; Espinós, Carmen (Centro de Investigación Príncipe Felipe (València)) ; Universitat Autònoma de Barcelona
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. [...]
2020 - 10.1002/acn3.51095
Annals of Clinical and Translational Neurology, Vol. 7 (august 2020) , p. 1436-1442  
9.
16 p, 3.4 MB AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders / Salpietro, V. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Dixon, C. L. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Guo, H. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bello, O. D. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Vandrovcova, J. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Efthymiou, S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Maroofian, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Heimer, G. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Burglen, L. (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Département de Génétique et Embryologie Médicale. APHP. Hôpital Trousseau) ; Valence, S. (Centre de Référence des Malformations et Maladies Congénitales du Cervelet. Service de Neurologie Pédiatrique. APHP. Hôpital Trousseau) ; Torti, E. (GeneDx) ; Hacke, M. (Biochemistry Center. Heidelberg University) ; Rankin, J. (Royal Devon and Exeter NHS Foundation Trust) ; Tariq, H. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Colin, E. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Procaccio, V. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Striano, P. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Mankad, K. (Great Ormond Street Hospital for Children (Londres)) ; Lieb, A. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Chen, S. (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Pisani, L. (Division of Medical Genetics. Northwell Health/Hofstra University SOM) ; Bettencourt, C. (UCL Institute of Neurology (Regne Unit)) ; Männikkö, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Manole, A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Brusco, Alfredo (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Grosso, E. (Department of Medical Sciences. Medical Genetics Unit. University of Torino) ; Ferrero, G. B. (Department of Public Health and Pediatrics. University of Torino) ; Armstrong-Moron, J. (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Gueden, S. (Unit of Neuropediatrics. University Hospital) ; Bar-Yosef, O. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Tzadok, M. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Monaghan, K. G. (GeneDx) ; Santiago-Sim, T. (GeneDx) ; Person, R. E. (GeneDx) ; Cho, M. T. (GeneDx) ; Willaert, R. (GeneDx) ; Yoo, Y. (Department of Biomedical Sciences. Seoul National University) ; Chae, J. H. (Department of Pediatrics. Seoul National University) ; Quan, Y. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wu, H. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Wang, T. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Bernier, R. A. (Department of Psychiatry. University of Washington) ; Xia, K. (Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics. School of Life Sciences. Central South University) ; Blesson, A. (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Jain, M. (Center for Autism and Related Disorders. Kennedy Krieger Institute) ; Motazacker, M. M. (Department of Clinical Genetics. University of Amsterdam) ; Jaeger, B. (Department of Pediatric Neurology. Amsterdam UMC) ; Schneider, A. L. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Boysen, K. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Muir, A. M. (Department of Pediatrics. University of Washington) ; Myers, C. T. (Department of Pediatrics. Division of Genetic Medicine. University of Washington) ; Gavrilova, R. H. (Department of Clinical Genomics. Mayo Clinic) ; Gunderson, L. (Department of Clinical Genomics. Mayo Clinic) ; Schultz-Rogers, L. (Department of Clinical Genomics. Mayo Clinic) ; Klee, E. W. (Department of Clinical Genomics. Mayo Clinic) ; Dyment, D. (Children's Hospital of Eastern Ontario Research Institute. University of Ottawa) ; Osmond, M. (Genome Québec Innovation Center) ; Parellada, M. (Hospital General Universitario Gregorio Marañón) ; Llorente, C. (Hospital General Universitario Gregorio Marañón) ; Gonzalez-Peñas, J. (Hospital General Universitario Gregorio Marañón) ; Carracedo, A. (Fundación Pública Galega de Medicina Xenómica) ; Van Haeringen, A. (Department of Clinical Genetics. Leiden University Medical Center) ; Ruivenkamp, C. (Department of Clinical Genetics. Leiden University Medical Center) ; Nava, Caroline. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Heron, D. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Nardello, R. (Department of Health Promotion,Mother and Child Care. Internal Medicine and Medical Specialities "G. D'Alessandro". University of Palermo) ; Iacomino, M. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Minetti, C. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Skabar, A. (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Fabretto, A. (Institute for Maternal and Child Health. IRCCS "Burlo Garofolo". University of Trieste) ; Hanna, M. G. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bugiardini, E. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Hostettler, I. (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Callaghan, B. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Khan, A. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Cortese, Andrea (UCL Queen Square Institute of Neurology (Regne Unit)) ; O'Connor, E. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Yau, W. Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Bourinaris, T. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Kaiyrzhanov, R. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Chelban, V. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Madej, M. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Diana, M. C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Vari, M. S. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Pedemonte, M. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Bruno, C. (Pediatric Neurology and Muscular Diseases Unit. IRCCS Istituto "Giannina Gaslini") ; Balagura, G. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Scala, M. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Fiorillo, C. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Nobili, L. (Department of Neurosciences. Rehabilitation. Ophthalmology. Genetics. Maternal and Child Health. University of Genoa) ; Malintan, N. T. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Zanetti, M. N. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Krishnakumar, S. S. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Lignani, G. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Jepson, J. E. C. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Broda, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Baldassari, S. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Rossi, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Fruscione, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Madia, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Traverso, M. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; De-Marco, P. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron) ; Munell Casadesus, Francina (Hospital Universitari Vall d'Hebron) ; Kriouile, Y. (Children's Hospital of Rabat. University of Rabat) ; El-Khorassani, M. (Children's Hospital of Rabat. University of Rabat) ; Karashova, B. (Department of Paediatrics. Medical University of Sofia) ; Avdjieva, D. (Department of Paediatrics. Medical University of Sofia) ; Kathom, H. (Department of Paediatrics. Medical University of Sofia) ; Tincheva, R. (Department of Paediatrics. Medical University of Sofia) ; Van-Maldergem, L. (Centre of Human Genetics. University Hospital Liege) ; Nachbauer, W. (Department of Neurology. Medical University Innsbruck) ; Boesch, S. (Department of Neurology. Medical University Innsbruck) ; Gagliano, A. (Ospedale Pediatrico "A. Cao". Department of Biomedical Sciences. University of Cagliari) ; Amadori, E. (Child and Adolescent Neuropsychiatry. University of Campania "Luigi Vanvitelli") ; Goraya, J. S. (Division of Paediatric Neurology. Dayanand Medical College & Hospital) ; Sultan, T. (Department of Paediatric Neurology. Children's Hospital of Lahore) ; Kirmani, S. (Department of Medical Genetics. Aga Khan University Hospital. Karachi) ; Ibrahim, S. (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Jan, F. (Department of Paediatric Neurology. Aga Khan University Hospital. Karachi) ; Mine, J. (Department of Pediatrics. Shimane University School of Medicine) ; Banu, S. (Institute of Child Health and Shishu Shastho Foundation Hospital) ; Veggiotti, P. (Vittore Buzzi Children's Hospital) ; Zuccotti, G. V. (Vittore Buzzi Children's Hospital) ; Ferrari, M. D. (Leiden University Medical Center) ; Van Den Maagdenberg, A. M. J. (Leiden University Medical Center) ; Verrotti, A. (Paediatric Department. San Salvatore Hospital. University of L'Aquila) ; Marseglia, G. L. (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Savasta, S. (Department of Pediatrics. University of Pavia. IRCCS Policlinico "San Matteo") ; Soler, M. A. (Computational Modelling of Nanoscale and Biophysical systems Laboratory. Italian Institute of Technology) ; Scuderi, C. (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Borgione, E. (Laboratorio di Neuropatologia Clinica. U.O.S. Malattie. Neuromuscolari Associazione OASI Maria SS. ONLUS - IRCCS) ; Chimenz, R. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Gitto, E. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Dipasquale, V. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Sallemi, A. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Fusco, M. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cuppari, C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Cutrupi, M. C. (Department of Pediatrics. University Hospital "Gaetano Martino". University of Messina) ; Ruggieri, M. (Department of Clinical and Experimental Medicine. Section of Pediatrics and Child Neuropsychiatry. University of Catania) ; Cama, A. (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Capra, V. (Department of Neurosurgery. IRCCS Istituto Giannina Gaslini) ; Mencacci, N. E. (Department of Neurology. Northwestern University Feinberg School of Medicine) ; Boles, R. (Courtagen Life Sciences) ; Gupta, N. (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Kabra, M. (All India Institute of Medical Sciences (Nova Delhi, Índia)) ; Papacostas, S. (The Cyprus Institute of Neurology and Genetics) ; Zamba-Papanicolaou, E. (The Cyprus Institute of Neurology and Genetics) ; Dardiotis, Efthimios (General University Hospital of Larissa (Grècia)) ; Maqbool, S. (Department of Developmental and Behavioral Pediatrics. Children Hospital Complex and Institute of Child Health) ; Rana, N. (Department of Pediatric Neurology. Children Hospital Complex and Institute of Child Health) ; Atawneh, O. (Hilal Pediatric Hospital Hebron. Hebron. West Bank) ; Lim, S. Y. (Department of Biomedical Science. Faculty of Medicine. University of Malaysia) ; Shaikh, F. (Jeffrey Cheah School of Medicine and Health Sciences. Monash University Malaysia) ; Koutsis, G. (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Breza, M. (Neurogenetics Unit. Neurology Department. Eginition Hospital. National and Kapodistrian University) ; Coviello, D. A. (Laboratorio di Genetica Umana. IRCCS Istituto Giannina Gaslini) ; Dauvilliers, Y. A. (University Hospital of Montpellier (França)) ; AlKhawaja, I. (Albashir University Hospital) ; AlKhawaja, M. (Prince Hamzah Hospital. Ministry of Health) ; Al-Mutairi, F. (King Saud University) ; Stojkovic, T. (Institute of Myology. Hôpital La Pitié Salpêtrière) ; Ferrucci, V. (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Zollo, M. (CEINGE. Biotecnologie Avanzate S.c.a.rl.) ; Alkuraya, F. S. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ; Kinali, M. (The Portland Hospital) ; Sherifa, H. (Assiut University Hospital) ; Benrhouma, H. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Turki, I. B. Y. (Research Unit UR12 SP24. Department of Child and Adolescent Neurology. National Institute Mongi Ben Hmida of Neurology) ; Tazir, M. (Laboratoire de Recherche en Neurosciences. Service de Neurologie) ; Obeid, M. (Department of Anatomy. Cell Biology and Physiology. American University of Beirut Medical Center) ; Bakhtadze, S. (Department of Child Neurology. Tbilisi State Medical University) ; Saadi, N. W. (Baghdad College of Medicine. Children Welfare Teaching Hospital) ; Zaki, M. S. (Human Genetics and Genome Research Division. National Research Centre) ; Triki, C. C. (Child Neurology Department. Hedi Chaker hospital- Sfax Tunisia) ; Benfenati, F. (Istituto Italiano di Tecnologia) ; Gustincich, S. (Istituto Italiano di Tecnologia) ; Kara, M. (Paediatric Neurology Unit. Department of Pediatrics. University of Tripoli) ; Belcastro, V. (Neurology Unit. S. Anna Hospital) ; Specchio, N. (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Capovilla, G. (Child Neuropsychiatry Department. Epilepsy Center. C. Poma Hospital) ; Karimiani, E. G. (Genetics Research Centre. Molecular and Clinical Sciences Institute. St George's. University of London. Cranmer Terrace) ; Salih, A. M. (Medical University of Duhok) ; Okubadejo, N. U. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Ojo, O. O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oshinaike, O. O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Oguntunde, O. (College of Medicine. University of Lagos (CMUL) & Lagos University Teaching Hospital) ; Wahab, K. (University of Ilorin Teaching Hospital (UITH)) ; Bello, A. H. (University of Ilorin Teaching Hospital (UITH)) ; Abubakar, S. (Ahmadu Bello University) ; Obiabo, Y. (Delta State University Teaching Hospital) ; Nwazor, E. (Federal Medical Centre) ; Ekenze, O. (University of Nigeria Teaching Hospital) ; Williams, U. (University of Calabar Teaching Hospital) ; Iyagba, A. (University of Port Harcourt Teaching Hospital) ; Taiwo, L. (Babcock University. Ilishan. Remo & Federal Medical Centre) ; Komolafe, M. (Obafemi Awolowo University Teaching Hospital (OAUTH)) ; Senkevich, K. (Pavlov First Saint Petersburg State Medical University) ; Shashkin, C. (Kazakh National State University) ; Zharkynbekova, N. (Shymkent Medical Academy) ; Koneyev, K. (Kazakh National State University) ; Manizha, G. (Avicenna Tajik State Medical University) ; Isrofilov, M. (Avicenna Tajik State Medical University) ; Guliyeva, U. (Mediclub clinic) ; Salayev, K. (Azerbaijan State Medical University) ; Khachatryan, S. ("Somnus" Neurology Clinic Sleep and Movement Disorders Center) ; Rossi, S. (Department of Neurology. Università Cattolica del Sacro Cuore) ; Silvestri, G. (Department of Neurology. Università Cattolica del Sacro Cuore) ; Haridy, N. (Department of Neurology and Psychiatry. Assuit University Hospital) ; Ramenghi, L. A. (Neonatal Intensive Care Unit. Istituto Giannina Gaslini) ; Xiromerisiou, G. (Department of Neurology. Medical School. University of Thessaly) ; David, E. (Radiology Unit. Papardo Hospital. Viale Ferdinando Stagno d'Alcontres. Contrada Papardo) ; Aguennouz, M. (Unit of Neurology and Neuromuscular Diseases. Department of Clinical and Experimental Medicine. University of Messina) ; Fidani, L. (Department of Biology. Medical School. Aristotle University) ; Spanaki, C. (Department of Neurology. Medical School. University of Crete) ; Tucci, A. (William Harvey Research Institute. The NIHR Biomedical Research Centre at Barts. Queen Mary University London) ; Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ; Chez, M. (Neuroscience Medical Group. 1625 Stockton Boulevard. Suite 104) ; Tsai, A. (Department of Genetics and Inherited Metabolic diseases. Children's Hospital Colorado) ; Fassi, E. (Department of Pediatrics. Washington University School of Medicine) ; Shinawi, M. (Department of Pediatrics. Washington University School of Medicine) ; Constantino, J. N. (William Greenleaf Eliot Division of Child & Adolescent Psychiatry. Department of Psychiatry. Washington University School of Medicine) ; De Zorzi, R. (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Fortuna, Sara (Department of Chemical and Pharmaceutical Sciences. University of Trieste) ; Kok, F. (Mendelics Genomic Analysis) ; Keren, B. (Department of Genetics. Assistance Publique - Hôpitaux de Paris. University Hôpital Pitié-Salpêtrière) ; Bonneau, D. (MitoLab. UMR CNRS 6015-INSERM U1083. MitoVasc Institute. Angers University) ; Choi, M. (Department of Biomedical Sciences. Seoul National University) ; Benzeev, B. (Pediatric Neurology Unit. Safra Children's Hospital. Sheba Medical Center and Sackler Faculty of Medicine. Tel Aviv University) ; Zara, F. (Laboratory of Neurogenetics and Neuroscience. IRCCS Istituto "Giannina Gaslini") ; Mefford, H. C. (Department of Pediatrics. University of Washington) ; Scheffer, I. E. (Epilepsy Research Centre. Department of Medicine. University of Melbourne. Austin Health) ; Clayton-Smith, J. (Division of Evolution and Genomic Sciences. School of Biological Sciences. University of Manchester) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ; Rothman, J. E. (Department of Cell Biology. Yale University School of Medicine) ; Eichler, E. E. (Howard Hughes Medical Institute. University of Washington) ; Kullmann, D. M. (Department of Clinical and Experimental Epilepsy. UCL Queen Square Institute of Neurology) ; Houlden, H. (UCL Queen Square Institute of Neurology (Regne Unit)) ; Universitat Autònoma de Barcelona
AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca-impermeable, with a linear relationship between current and trans-membrane voltage. [...]
2019 - 10.1038/s41467-019-10910-w
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 3094  
10.
9 p, 799.8 KB Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment / Serrano, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; De Diego, Victor (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Muchart, Jordi (Radiology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Cuadras, Daniel (Statistics Department, Fundació Sant Joan de Déu) ; Felipe, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Velázquez-Fragua, Ramón (Hospital Universitario La Paz (Madrid)) ; Poo, M. Pilar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Fons, Carmen (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; O'Callaghan, M. Mar (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Boix, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Robles, Bernabé (Hospital Sant Joan de Déu (Manresa)) ; Carratalá, Francisco (Neurology Department, Hospital Sant Joan d'Alacant) ; Girós, Marisa (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Briones, Paz (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Gort, Laura (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Artuch, R. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Cerdá, Celia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Jaeken, Jaak (Center for Metabolic Disease, KULeuven) ; Pérez, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Pérez-Dueñas, Belén (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona ; Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. [...]
2015 - 10.1186/s13023-015-0358-y
Orphanet Journal of Rare Diseases, Vol. 10 (october 2015)  

See also: similar author names
11 Perez-Dueñas, Belen
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