Zobrazeno 1 - 10
of 3 161
pro vyhledávání: '"Palau,F"'
Autor:
Ferri-Rufete, D, Baleta-Riera, L, Casas-Alba, D, Balsells, S, Llorca-Cardeñosa, A, Barraso, M, Català, J, Casas, E, Díaz, J, Fresno, C, Palau, F, Martínez-Monseny, AF
Publikováno v:
In AJO International 3 October 2024 1(3)
Autor:
Domínguez-Berzosa L; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 08950 Barcelona, Spain., Cantarero L; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 08950 Barcelona, Spain., Rodríguez-Sanz M; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Tort G; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Garrido E; Laboratory of Neurosciences, Psychiatry Department, Instituto de Investigación Sanitaria del Hospital Universitario 12 de Octubre, Avda. Andalucía s/n, 28041 Madrid, Spain., Troya-Balseca J; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Sáez M; Centro de Investigación Príncipe Felipe (CIPF), 45012 Valencia, Spain., Castro-Martínez XH; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Fernandez-Lizarbe S; Centro de Investigación Príncipe Felipe (CIPF), 45012 Valencia, Spain., Urquizu E; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Calvo E; Unidad de Proteomica, Centro Nacional de Investigaciones Cardiovasculares (CNIC), 28029 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), ISCIII, 28029 Madrid, Spain., López JA; Unidad de Proteomica, Centro Nacional de Investigaciones Cardiovasculares (CNIC), 28029 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), ISCIII, 28029 Madrid, Spain., Palomo T; Laboratory of Neurosciences, Psychiatry Department, Instituto de Investigación Sanitaria del Hospital Universitario 12 de Octubre, Avda. Andalucía s/n, 28041 Madrid, Spain.; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), ISCIII, 28041 Madrid, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 08950 Barcelona, Spain.; ÚNICAS SJD Center, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 08950 Barcelona, Spain.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Oct 04; Vol. 25 (19). Date of Electronic Publication: 2024 Oct 04.
Autor:
Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.; Department of Genetic and Molecular Medicine - IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Codina A; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Jou C; Universitat de Barcelona (UB), Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Meyer S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; University Medical Center Göttingen, Department of Neurology, Göttingen, Germany., Kilicarslan OA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Aleman A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Luknárová R; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany., Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Gut M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany., Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Topf A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. francesc.palau@sjd.es.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. francesc.palau@sjd.es.; Department of Genetic and Molecular Medicine - IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain. francesc.palau@sjd.es.; ERN ITHACA, Barcelona, Spain. francesc.palau@sjd.es.; Division of Pediatrics, Faculty of Medicine and Health Sciences, Universitat de Barcelona (UB), Barcelona, Spain. francesc.palau@sjd.es., Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain. daniel.natera@sjd.es.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. daniel.natera@sjd.es.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. daniel.natera@sjd.es.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 27. Date of Electronic Publication: 2024 Sep 27.
Autor:
Cascajo-Almenara MV; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., Juliá-Palacios N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Urreizti R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Sánchez-Cuesta A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., Fernández-Ayala DM; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain., García-Díaz E; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain., Oliva C; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., O Callaghan MDM; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08028, Barcelona, Spain., Moreno-Lozano PJ; Internal Medicine Department, Clinic Hospital and University of Barcelona, 08036, Barcelona, Spain., Muchart J; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Nascimento A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Ortez CI; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Natera-de Benito D; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Pineda M; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Rivera N; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA., Navas P; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain., Salviati L; Clinical Genetics Unit, Department of Women and Children's Health, Padua University, 35128, Padua, Italy., Palau F; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, University of Barcelona, 08036, Barcelona, Spain., Yubero D; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., García-Cazorla A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh and Children's Neuroscience Institute, University of Pittsburgh Medical Center and Children's Hospital of Pittsburgh, 15224, Pittsburgh, PA, USA. udai@pitt.edu., Santos-Ocaña C; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. csanoca@upo.es.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013, Sevilla, Spain. csanoca@upo.es., Artuch R; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029, Madrid, Spain. Rafael.artuch@sjd.es.; Institut de Recerca Sant Joan de Déu. Clinical Biochemistry, Paediatric Neurology, Radiology and Genetics Departments, 08950, Barcelona, Spain. Rafael.artuch@sjd.es.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Apr; Vol. 32 (4), pp. 426-434. Date of Electronic Publication: 2024 Feb 05.
Autor:
Pijuan J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain., Vilanova-Adell A; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Casas-Alba D; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu and University of Barcelona, Barcelona, Spain.; European Reference Network, ITHACA, Barcelona, Spain., Campistol J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.; Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain.; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu and University of Barcelona, Barcelona, Spain.; European Reference Network, ITHACA, Barcelona, Spain.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 340-342. Date of Electronic Publication: 2023 Nov 22.
Autor:
Brooks D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Burke E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.; Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA., Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Bick D; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Casas-Alba D; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Armstrong J; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Prat C; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain., Martínez-Monseny AF; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA., Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 279-291. Date of Electronic Publication: 2024 Mar 07.
Autor:
Tolosa-Merlos D; Institut de Neuropsiquiatria i Addiccions, Hospital del Mar, Barcelona, Spain., Moreno-Poyato AR; Department of Public Health, Mental Health and Maternal and Child Health Nursing, Nursing School, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain., González-Palau F; Hospital Santa Maria, Salut/Gestió de Serveis Sanitaris, Lleida, Spain., Pérez-Toribio A; Unitat de Salut Mental de l'Hospitalet, Gerència Territorial Metropolitana Sud, Institut Català de la Salut, L'Hospitalet de Llobregat, Spain., Casanova-Garrigós G; Department and Faculty of Nursing, Universitat Rovira i Virgili, Tortosa, Spain., Delgado-Hito P; Department of Fundamental Care and Medical-Surgical Nursing, Nursing School, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain.; GRIN-IDIBELL (Nursing Research Group - Bellvitge Biomedical Research Institute), L'Hospitalet de Llobregat, Spain.
Publikováno v:
Journal of clinical nursing [J Clin Nurs] 2023 Aug; Vol. 32 (15-16), pp. 5135-5146. Date of Electronic Publication: 2022 Dec 24.
Autor:
Moreno-Poyato AR; Antonio R. Moreno-Poyato, PhD, MSc, MHN, RN, Department of Public Health, Mental Health and Maternal and Child Health Nursing, Universitat de Barcelona, L'Hospitalet de Llobregat, Spain., El Abidi K; Khadija El Abidi, MSc, RN, Institut de Neuropisquiatria i Addiccions, Hospital del Mar, Barcelona, Spain., González-Palau F; Francesca González-Palau, PhD, MSc, MHN, RN, Hospital Santa Maria, Salut/Gestió de Serveis Sanitaris, Lleida, Catalonia, Spain., Tolosa-Merlos D; Diana Tolosa-Merlos, PhD, MSc, RN, Institut de Neuropisquiatria i Addiccions, Hospital del Mar, Barcelona, Spain., Rodríguez-Nogueira Ó; Óscar Rodríguez-Nogueira, PhD, MSc, PT, SALBIS Research Group, Department of Nursing and Physiotherapy, Universidad de León, Campus de Ponferrada, Ponferrada, Spain., Pérez-Toribio A; Alonso Pérez-Toribio, PhD, MSc, RN, Unitat de Salut Mental de l'Hospitalet, Gerència Territorial Metropolitana Sud/Institut Català de la Salut, L'Hospitalet de Llobregat, Spain., Casanova-Garrigos G; Georgina Casanova-Garrigos, PhD, MSc, RN, Department and Faculty of Nursing, Universitat Rovira i Virgili, Tortosa, Catalonia, Spain., Roviralta-Vilella M; Maria Roviralta-Vilella, MSc, RN, Parc de Salut Mar de Barcelona, Barcelona, Spain., Roldán-Merino JF; Juan F. Roldán-Merino, PhD, MSc, MHN, RN, Campus Docent Sant Joan de Déu Fundació Privada. School of Nursing, University of Barcelona, Barcelona, Spain.
Publikováno v:
Journal of the American Psychiatric Nurses Association [J Am Psychiatr Nurses Assoc] 2024 Jan-Feb; Vol. 30 (1), pp. 74-85. Date of Electronic Publication: 2022 Jan 03.
Autor:
Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Matalonga L; Centro Nacional Análisis Genómico (CNAG), Barcelona, Spain., Martorell L; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain.; Department of Genetic and Molecular Medicine - IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Codina A; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain.; Department of Genetic and Molecular Medicine - IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain., Jou C; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain.; Department of Genetic and Molecular Medicine - IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; ERN ITHACA, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, Universitat de Barcelona (UB), Barcelona, Spain., Beltran S; Centro Nacional Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain., Lochmüller H; Centro Nacional Análisis Genómico (CNAG), Barcelona, Spain.; Childrens Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Töpf A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
Publikováno v:
Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (3), pp. 647-653.
Autor:
Pijuan J; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sevrioukova IF; Department of Molecular Biology and Biochemistry, University of California, Irvine, California, USA., García-Campos Ó; Department of Pediatric Neurology, Hospital General Universitario de Toledo, Toledo, Spain., Hernaez M; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Gort L; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain., Gómez-Chiari M; Department of Radiology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Jou C; Pathology Department, Institut de Recerca Sant Joan de Déu, CIBERER, Barcelona, Spain., Candela-Cantó S; Department of Neurosurgery, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Rumiá J; Department of Neurosurgery, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Neurosurgery, Hospital Clinic de Barcelona, Barcelona, Spain., Artuch R; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Genetic and Molecular Medicine, IPER, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.; European Reference Network for Rare Malformation Syndromes, Intellectual and Other Neurodevelopmental Disorders, (ERN-ITHACA), Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Ortigoza-Escobar JD; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Jan; Vol. 39 (1), pp. 215-217. Date of Electronic Publication: 2023 Oct 03.