Zobrazeno 1 - 10
of 707
pro vyhledávání: '"Yubero D"'
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:
Minguez B; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., de Los Santos M; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Garcia-Volpe C; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Molera C; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08036 Barcelona, Spain., Oliva C; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, 08036 Barcelona, Spain., Arias A; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Rodriguez-Gonzalez H; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain., Yubero D; Genetic Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Tondo M; Department of Biochemistry, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute (IIB) Sant Pau, 08041 Barcelona, Spain.; Centre of Biomedical Investigation Network for Diabetes and Metabolic Diseases (CIBERDEM), 28029 Madrid, Spain., Santos-Ocaña C; Departamento de Fisiología, Anatomía y Biología Celular, Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Sevilla, Spain.; U703-U729 CIBERER, Instituto de Salud Carlos III, 28029 Madrid, Spain., Meavilla S; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain., Artuch R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; U703-U729 CIBERER, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Publikováno v:
Antioxidants (Basel, Switzerland) [Antioxidants (Basel)] 2024 Aug 09; Vol. 13 (8). Date of Electronic Publication: 2024 Aug 09.
Autor:
Fabra MA; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Paredes-Fuentes AJ; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., Torralba Carnerero M; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain., Moreno Férnandez de Ayala DJ; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Arroyo Luque A; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Sánchez Cuesta A; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Staiano C; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Sanchez-Pintos P; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital de Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.; GCV14/ER/5 CIBERER, Instituto de Salud Carlos III, Santiago de Compostela, Spain., Luz Couce M; Unidad de Diagnóstico y Tratamiento de Enfermedades Metabólicas Congénitas, Hospital de Santiago de Compostela, IDIS, CIBERER, MetabERN, Santiago de Compostela, Spain.; GCV14/ER/5 CIBERER, Instituto de Salud Carlos III, Santiago de Compostela, Spain., Tomás M; Hospital Universitari i Politècnic La Fe, Servicio de Neuropediatría, Valencia, Spain., Marco-Hernández AV; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Orellana C; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Martínez F; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Roselló M; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Caro A; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Oltra Soler JS; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Monfort S; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Sánchez A; Hospital Universitari i Politècnic La Fe, Unidad de Genética, Valencia, Spain., Rausell D; Hospital Universitari i Politècnic La Fe, Servicio de Análisis Clínicos, Valencia, Spain., Vitoria I; Hospital Universitari i Politècnic La Fe, Unidad de Metabolopatías, Valencia, Spain., Del Toro M; Pediatric Neurology Unit, Hospital Universitari Vall d'Hebron, CIBERER, MetabERN, Barcelona, Spain.; Instituto de Salud Carlos III, Barcelona, Spain., Garcia-Cazorla A; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., Julia-Palacios NA; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., Jou C; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., Yubero D; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., López LC; Departamento de Fisiología, Facultad de Medicina, Centro de Investigación Biomédica, Instituto de Biotecnología, Universidad de Granada, Granada, Spain., Hernández Camacho JD; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., López Lluch G; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Ballesteros Simarro M; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Rodríguez Aguilera JC; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Calvo GB; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Cascajo Almenara MV; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain., Artuch R; Hospital San Joan de Deu, Barcelona, Spain.; Unidad U703 CIBERER, Instituto de Salud Carlos III, Barcelona, Spain., Santos-Ocaña C; Departamento de Fisiología, Anatomía y Biología Celular, CABD, Universidad Pablo de Olavide, Sevilla, Spain.; Unidad U729 CIBERER, Instituto de Salud Carlos III, Sevilla, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul 08. Date of Electronic Publication: 2024 Jul 08.
Autor:
Martinez-Molina M; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Carmona-Rocha E; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Gil-Lianes J; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Yubero D; Genetics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Casas-Alba D; Genetics Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Baselga E; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain., Ivars M; Dermatology Department, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2024 Jul 05. Date of Electronic Publication: 2024 Jul 05.
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:
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:
Perandones-González H; Complejo Asistencial Universitario de León, Leon, Spain., Rusiñol-Batlle L; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Bosquez D; Department of Dermatology, Sant Joan de Deu Barcelona, Barcelona, Spain., Brunet-Llobet L; Department of Odontology, Sant Joan de Deu Barcelona, Barcelona, Spain., Ivars M; Department of Dermatology, Sant Joan de Deu Barcelona, Barcelona, Spain., Yubero D; Department of Clinical Biochemistry, Sant Joan de Deu Barcelona, Barcelona, Spain.; Department of Clinical Biochemistry and Molecular Medicine, Institut de Recerca Sant Joan de Déu and CIBERER16 ISCIII, Barcelona, Spain., Sarig O; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Malki L; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Peled A; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Baselga E; Department of Dermatology, Sant Joan de Deu Barcelona, Barcelona, Spain.
Publikováno v:
Pediatric dermatology [Pediatr Dermatol] 2023 Nov-Dec; Vol. 40 (6), pp. 1094-1096. Date of Electronic Publication: 2023 Mar 27.
Autor:
Paredes-Fuentes AJ; Division of Inborn Errors of Metabolism-IBC, Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, Barcelona, Spain., Oliva C; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain., Urreizti R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Yubero D; 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, Barcelona, Spain., Artuch R; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Publikováno v:
Critical reviews in clinical laboratory sciences [Crit Rev Clin Lab Sci] 2023 Jun; Vol. 60 (4), pp. 270-289. Date of Electronic Publication: 2023 Jan 24.
Autor:
Muñoz-Pujol G; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain., Ortigoza-Escobar JD; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Paredes-Fuentes AJ; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain., Jou C; Pathology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, University of Barcelona, CIBERER, Esplugues de Llobregat, Barcelona, Spain., Ugarteburu O; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain., Gort L; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain., Yubero D; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain., García-Cazorla A; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., O'Callaghan M; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Campistol J; Pediatric Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Muchart J; Pediatric Radiology Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Yépez VA; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Informatics, Technical University of Munich, Garching, Germany., Gusic M; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Gagneur J; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Informatics, Technical University of Munich, Garching, Germany., Prokisch H; School of Medicine, Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Artuch R; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain., Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain., Urreizti R; Clinical Biochemistry and Molecular Medicine and Genetics Departments, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, and CIBERER, Esplugues de Llobregat, Barcelona, Spain., Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, CIBERER, Barcelona, Spain.
Publikováno v:
Brain pathology (Zurich, Switzerland) [Brain Pathol] 2023 May; Vol. 33 (3), pp. e13134. Date of Electronic Publication: 2022 Nov 30.
Autor:
Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Bruels CC; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., 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., Milisenda JC; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain., Estrella EA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Li C; Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, FL, 32610, USA., Pijuan J; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Draper I; Molecular Cardiology Research Institute, Tufts Medical Center, Boston, MA, 02111, USA., Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Stafki SA; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Syeda SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 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, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 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, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Martorell L; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Pinal-Fernandez I; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lidov HGW; Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Mammen AL; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Grau-Junyent JM; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Internal Medicine, Hospital Clinic of Barcelona, University of Barcelona, Barcelona, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Palau F; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Ghosh PS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Darras BT; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Kunkel LM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Hoenicka J; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Kang PB; Department of Neurology, Paul and Sheila Wellstone Muscular Dystrophy Center, University of Minnesota Medical School, 420 Delaware Street SE, MMC 295, Minneapolis, MN, 55455, USA. pkang@umn.edu.; Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA. pkang@umn.edu., Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Déu 2, Esplugues de Llobregat, 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:
Acta neuropathologica [Acta Neuropathol] 2023 Apr; Vol. 145 (4), pp. 479-496. Date of Electronic Publication: 2023 Feb 17.