Results overview: Found 3 records in 0.02 seconds.
Articles, 3 records found
Articles 3 records found  
1.
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) ; Gavazzi, Francesco (Children's Hospital of Philadelphia) ; Adang, Laura A. (Children's Hospital of Philadelphia) ; 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) ; Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ; Eleftheriou, Despina (University College London (UCL)) ; Estienne, Margherita (Istituto Neurologico Carlo Besta) ; Fazzi, Elisa (Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy) ; Feillet, François (Service de Médecine Infantile, Centre de Référence des maladies métaboliques de Nancy, CHU Brabois Enfants, Unité INSERM NGERE U1256, Nancy, France) ; Galli, Jessica (Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy) ; Hartog, Nicholas (Department of Allergy/Immunology, Spectrum Health Helen Devos Children's Hospital, Michigan State University College of Human Medicine, East Lansing, Michigan) ; Harvengt, Julie (Department of Medical Genetics, CHU & University of Liège, Gembloux, Belgium) ; Heron, Bénédicte (Service de Neuropédiatrie, Centre Référence des Maladies Lysosomales, Hôpital Trousseau, Paris, France) ; Heron, Delphine (UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles", Groupe Hospitalier Pitié-Salpêtrière, Paris, France) ; Kelly, Diedre A. (The Liver Unit, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom) ; Lev, Dorit (Metabolic Neurogenetic Service, Wolfson Medical Center, The Rina Mor Institute of Medical Genetics, Holon, Israel) ; Levrat, Virginie (Service de pédiatrie, Centre Hospitalier Annecy Genevois, Pringy, France) ; Livingston, John H. (Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom) ; Marti, Itxaso (Pediatric Neurology, Hospital Universitario Donostia, Universidad del País Vasco UPV-EHU, San Sebastian, Spain) ; Mignot, Cyril (Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare, GH Pitié-Sapêtrière, Paris, France) ; Mochel, Fanny (Institut du Cerveau et de la Moelle épinière, INSERM U 1127, Sorbonne Universités, Paris, France) ; Nougues, Marie-Christine (Service de Neuropédiatrie, GHUEP, Hôpital Armand Trousseau, APHP, Paris, France) ; Oppermann, Ilena (University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Popp, Bernt (Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany) ; Rodero, Mathieu P. (Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France) ; Rodriguez, Diana (Service de Neuropédiatrie, Hôpital Trousseau, Groupe Hospitalier HUEP, Inserm U1141, Paris, France) ; Saletti, Veronica (Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy) ; Sharpe, Cia (Paediatric Neurology, Starship Children's Hospital, Auckland, New Zealand) ; Tonduti, Davide (Pediatric Neurology Unit, V. Buzzi Children's Hospital, Milan, Italy) ; Vadlamani, Gayatri (Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom) ; Haren, Keith Van (Department of Neurology, Stanford University School of Medicine, Stanford, California) ; Vila, Miguel Tomas (Neuropediatría, Hospital Universitari i Pôlitecnic La Fe, Valencia, Spain) ; Vogt, Julie (West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom) ; Wassmer, Evangeline (Department of Paediatric Neurology, Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, United Kingdom) ; Wiedemann, Arnaud (Service de Médecine Infantile, Centre de Référence des maladies métaboliques de Nancy, CHU Brabois Enfants, Unité INSERM NGERE U1256, Nancy, France) ; Wilson, Callum J. (National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand) ; Zerem, Ayelet (Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel) ; Zweier, Christiane (Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany) ; Zuberi, Sameer M. (School of Medicine, University of Glasgow, Glasgow, United Kingdom) ; Orcesi, Simona (Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy) ; Vanderver, Adeline L. (Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania) ; Hur, Sun (Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts) ; Crow, Yanick J. (Centre for Genomic and Experimental Medicine, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom) ; 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  
2.
7 p, 396.4 KB Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect / Correa-Vela, Marta (Universitat Autònoma de Barcelona) ; Lupo, Vincenzo (Centro de Investigación Príncipe Felipe (CIPF)) ; Montpeyó, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sancho, Paula (Centro de Investigación Príncipe Felipe (CIPF)) ; 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) ; Jenkins, Alison (Centro de Investigación Príncipe Felipe (CIPF)) ; Fernández-Rodríguez, Sandra (Centro de Investigación Príncipe Felipe (CIPF)) ; Tello, Cristina (Centro de Investigación Príncipe Felipe (CIPF)) ; Ramírez-Jiménez, Laura (Centro de Investigación Príncipe Felipe (CIPF)) ; Pérez, Belén (Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz)) ; Sánchez-Montáñez, Ángel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Macaya Ruiz, Alfons (Universitat Autònoma de Barcelona) ; Sobrido, María J. (Fundación Pública Galega de Medicina Xenómica, and CIBER on Rare Diseases (CIBERER). Instituto de Investigaciones Sanitarias (IDIS)) ; 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 (CIPF)) ; 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  
3.
9 p, 799.8 KB Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment / Serrano, Mercedes (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Passeig Sant Joan de Déu) ; de Diego, Víctor (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; 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, Ramón (Neurology Department, Hospital Universitario La Paz) ; Poo, M. Pilar (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Fons, Carmen (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; O'Callaghan, M. Mar (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; García-Cazorla, Angels (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Boix, Cristina (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Robles, Bernabé (Neurology Department, Hospital General de Sant Boi, Parc Sanitari Sant Joan de Déu) ; Carratalá, Francisco (Neurology Department, Hospital Sant Joan d'Alacant) ; Girós, Marisa (Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER)) ; Briones, Paz (Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER)) ; Gort, Laura (Hospital Clinic-IBC, IDIBAPS, Instituto de Salud Carlos III, U-737 Centre for Biomedical Research on Rare Diseases (CIBER-ER)) ; Artuch, Rafael (Clinical Biochemistry Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; Pérez-Cerdá, Celia (Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ) ; Jaeken, Jaak (Center for Metabolic Disease, KULeuven) ; Pérez, Belén (Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid (UAM), U-746 Centre for Biomedical Research on Rare Diseases (CIBER-ER) Madrid, Instituto de Salud Carlos III, IdiPAZ) ; Pérez-Dueñas, Belén (Neuropediatric Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III) ; 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
1 Pérez-Dueñas, B.
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.