Zobrazeno 1 - 10
of 495
pro vyhledávání: '"Giros, M."'
Autor:
Schluter, A, Rodriguez-Palmero, A, Verdura, E, Velez-Santamaria, V, Ruiz, M, Fourcade, S, Planas-Serra, L, Martinez, JJ, Guilera, C, Giros, M, Artuch, R, Yoldi, ME, O'Callaghan, M, Garcia-Cazorla, A, Armstrong, J, Marti, I, Rezola, EM, Redin, C, Mandel, JL, Conejo, D, Sierra-Corcoles, C, Beltran, S, Gut, M, Vazquez, E, Del Toro, M, Troncoso, M, Perez-Jurado, LA, Gutierrez-Solana, LG, de Munain, AL, Casasnovas, C, Aguilera-Albesa, S, Macaya, A, Pujol, A
Publikováno v:
Neurology
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Background and Objectives Genetic white matter disorders (GWMD) are of heterogeneous origin, with >100 causal genes identified to date. Classic targeted approaches achieve a molecular diagnosis in only half of all patients. We aimed to determine the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::a37761368e2873ca437fb7a0c71ae40e
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7321
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7321
Autor:
Pilo de la Fuente, B., Sobrido, M.J., Girós, M., Pozo, L., Lustres, M., Barrero, F., Macarrón, J., Díaz, M., Jiménez-Escrig, A.
Publikováno v:
In Neurología (English Edition) 2011 26(7):397-404
Autor:
Pilo de la Fuente, B., Sobrido, M.J., Girós, M., Pozo, L., Lustres, M., Barrero, F., Macarrón, J., Díaz, M., Jiménez-Escrig, A.
Publikováno v:
In Neurología 2011 26(7):397-404
Akademický článek
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Autor:
Bastida, J.M. *, Benito, R., Janusz, K., Díez‐Campelo, M., Hernández‐Sánchez, J.M., Marcellini, S., Girós, M., Rivera, J., Lozano, M.L., Hortal, A., Hernández‐Rivas, J.M., González‐Porras, J.R.
Publikováno v:
In Journal of Thrombosis and Haemostasis September 2017 15(9):1859-1866
Autor:
Lafuente González, H., Liceran Sanandres, M., Corbella ingles, E., Girós, M., Fanlo-maresma, M., Sarasa Corral, I., Trías Vilagut, F., Candás Estébanez, B., Puertas González, J.A., Corbella Virós, X., Pintó Sala, X.
Publikováno v:
In Atherosclerosis August 2018 275:e101-e101
Autor:
Espeel, M., Roels, F., Giros, M., Mandel, H., Peltier, A., Poggi, F., Poll-The, B.T., Smeitink, J.A.M., Maldergem, L. van, Santos, M.J.
Publikováno v:
European Journal of Cell Biology, 67, 4, pp. 319-327
European Journal of Cell Biology, 67, pp. 319-327
European Journal of Cell Biology, 67, 319-327
European Journal of Cell Biology, 67, pp. 319-327
European Journal of Cell Biology, 67, 319-327
Contains fulltext : 22261___.PDF (Publisher’s version ) (Open Access)
Autor:
Altassan R; Department of Medical Genetic, Montréal Children's Hospital, Montréal, Québec, Canada.; Department of Medical Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Péanne R; Department of Human Genetics, KU Leuven, Leuven, Belgium.; LIA GLYCOLAB4CDG (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure', France/ Belgium., Jaeken J; Department of Human Genetics, KU Leuven, Leuven, Belgium., Barone R; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Bidet M; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France., Borgel D; INSERM U1176, Université Paris-Sud, CHU de Bicêtre, Le Kremlin Bicêtre, France., Brasil S; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal., Cassiman D; Department of Gastroenterology-Hepatology and Metabolic Center, University Hospitals Leuven, Leuven, Belgium., Cechova A; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Coman D; Department of Metabolic Medicine, The Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Southport, Queensland, Australia., Corral J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain., Correia J; Centro de Referência Doenças Hereditárias do Metabolismo - Centro Hospitalar do Porto, Porto, Portugal., de la Morena-Barrio ME; Servicio de Hematologíay Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain., de Lonlay P; Reference Center of Inherited Metabolic Diseases, University Paris Descartes, Hospital Necker Enfants Malades, Paris, France., Dos Reis V; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Division of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia., Fiumara A; Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Francisco R; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal., Freeze H; Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California., Funke S; Department of Obstetrics and Gynecology, Division of Neonatology, University of Pécs, Pecs, Hungary., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gert M; LIA GLYCOLAB4CDG (International Associated Laboratory 'Laboratory for the Research on Congenital Disorders of Glycosylation-from Cellular Mechanisms to Cure', France/ Belgium.; Center for Human Genetics, KU Leuven, Leuven, Belgium., Girad M; AP-HP, Necker University Hospital, Hepatology and Gastroenterology Unit, French National Reference Centre for Biliary Atresia and Genetic Cholestasis, Paris, France.; Hepatologie prdiatrique department, Paris Descartes University, Paris, France., Giros M; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Grünewald S; Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust, London, UK., Hernández-Caselles T; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain., Honzik T; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic., Hutter M; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany., Krasnewich D; National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington., Lee J; Department of Metabolic Medicine, The Royal Children's Hospital Melbourne, Melbourne, Victoria, Australia., Lefeber D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Marques-de-Silva D; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal., Martinez AF; Genetics and Molecular Medicine and Rare Disease Paediatric Unit, Sant Joan de Déu Hospital, Barcelona, Spain., Moravej H; Neonatal Research Center, Shiraz University of Medical Sciences, Shiraz, Iran., Õunap K; Department of Pediatrics, University of Tartu, Tartu, Estonia.; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Pascoal C; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal.; Professionals and Patient Associations International Network (CDG & Allies-PPAIN), Departament o Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, Caparica, Portugal., Pascreau T; AP-HP, Service d'Hématologie Biologique, Hôpital R. Debré, Paris, France., Patterson M; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic Children's Center, Rochester, New York.; Division of Child and Adolescent Neurology, Department of Pediatrics, Mayo Clinic Children's Center, Rochester, New York.; Division of Child and Adolescent Neurology, Department of Medical Genetics, Mayo Clinic Children's Center, Rochester, New York., Quelhas D; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.; Centro de Genética Médica Doutor Jacinto Magalhães, Unidade de Bioquímica Genética, Porto, Portugal., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota., Sarkhail P; Metabolic and Genetic department, Sarem Woman's Hospital, Tehrān, Iran., Schiff M; Neurologie pédiatrique et maladies métaboliques, (C. Farnoux) - Pôle de pédiatrie médicale CHU, Hôpital Robert Debré, Paris, France., Seroczyńska M; Departamento de Bioquímica, Biología Molecular B e Inmunología, Faculty of Medicine, IMIB-University of Murcia, Murcia, Spain., Serrano M; Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Seta N; AP-HP, Bichat Hospital, Université Paris Descartes, Paris, France., Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, the Institute of Mother and Child, Warsaw, Poland., Thiel C; Center for Child and Adolescent Medicine, Department, University of Heidelberg, Heidelberg, Germany., Tort F; Secció d'Errors Congènits del Metabolisme -IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Vals MA; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Videira P; UCIBIO, Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa Caparica, Caparica, Portugal., Witters P; Department of Paediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium.; Department of Development and Regeneration, KU Leuven, Leuven, Belgium., Zeevaert R; Department of Paediatric Endocrinology and Diabetology, Jessa Hospital, Hasselt, Belgium., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, New York.; Department of Pediatrics, Tulane University, New Orleans, Louisiana.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Jan; Vol. 42 (1), pp. 5-28.
Autor:
Ferrándiz-Pulido, C. *, Bartralot, R., Girós, M., Bassas, P., Heras, C., Bodet, D., Savall, R., García-Patos, V.
Publikováno v:
In Actas dermosifiliograficas April 2009 100(3):222-226
Autor:
Ferrándiz-Pulido, C., Bartralot, R., Girós, M., Bassas, P., Heras, C., Bodet, D., Savall, R., García-Patos, V.
Publikováno v:
In Actas dermosifiliográficas (English Edition) 2009 100(3):222-226