Zobrazeno 1 - 10
of 631
pro vyhledávání: '"Natera De Benito 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:
Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, 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.; Department of Neurology, University Medical Center Göttingen, 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, Center for Genomic Sciences in Medicine, 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, Center for Genomic Sciences in Medicine, 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 Dec 10. Date of Electronic Publication: 2024 Dec 10.
Autor:
Rodriguez-Gonzalez H; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain.; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain., Ormazabal A; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Casado M; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Arias AY; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain., Oliva C; Departament de Bioquímica Clinica, Institut de Bioquímica Clínica, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain., Barranco-Altirriba M; B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain.; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain., Casadevall R; Dirección de Estrategia Digital y Datos, Hospital Sant Joan de Déu, Barcelona, Spain., García-Cuyas F; Dirección de Estrategia Digital y Datos, Hospital Sant Joan de Déu, Barcelona, Spain., Nascimento A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Ortez C; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Natera-de Benito D; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Armangué T; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., O'Callaghan MM; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Juliá-Palacios N; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Darling A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Ortigoza-Escobar JD; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Fons C; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., García-Cazorla A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain., Perera-Lluna A; B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain.; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain., Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.
Publikováno v:
Clinical chemistry [Clin Chem] 2024 Dec 02; Vol. 70 (12), pp. 1443-1451.
Autor:
Frongia, A.L., Natera-de Benito, D., Ortez, C., Alarcón, M., Borrás, A., Medina, J., Vigo, M., Padrós, N., Moya, O., Armas, J., Carrera-García, L., Expósito-Escudero, J., Cuadras, D., Bernal, S., Martorell, L., Colomer, J., Nascimento, A.
Publikováno v:
In Neuromuscular Disorders July 2019 29(7):517-524
Autor:
Di Feo MF; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.; Folkhälsan Research Center, Helsinki, Uusimaa, Finland., Oghabian A; Folkhälsan Research Center, Helsinki, Uusimaa, Finland., Nippala E; Folkhälsan Research Center, Helsinki, Uusimaa, Finland., Gautel M; Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King's College London BHF Centre of Research Excellence, London, UK., Jungbluth H; Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King's College London BHF Centre of Research Excellence, London, UK.; Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK., Forzano F; Clinical Genetics Department, Guy's and St Thomas NHS Foundation Trust, London, SE1 9RT, UK., Malfatti E; Université Paris Est Créteil, INSERM, U955, IMRB, and Reference Center for Neuromuscular Disorders, APHP Henri Mondor University Hospital, Créteil, France., Castiglioni C; Clinica MEDS, Santiago de Chile, Chile., Krey I; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, 4275, Germany., Gomez Andres D; Child Neurology Unit. Hospital Universitari Vall d'Hebron, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain., Brady AF; North West Thames Regional Service, Northwick Park and St. Mark's Hospitals, Harrow, London, UK., Iascone M; Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo, Italy., Cereda A; Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy., Pezzani L; Clinical Genetics Service, Pediatria 1-ASST Papa Giovanni XXIII, Bergamo, Italy., Natera De Benito D; Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain., Nascimiento Osorio A; Neuropaediatrics Department, Hospital Sant Joan De Déu, Institut De Recerca Sant Joan De Déu, Barcelona, 08950, Spain., Estévez Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan De Déu, Barcelona, Spain., Kurbatov SA; Voronezh NN Burdenko State Medical University, Voronezh, 394036, Russia.; Saratov State Medical University, Saratov, 410012, Russia., Attie-Bitach T; Unité D'embryofoetopathologie, Service D'histologie-Embryologie-Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, Kerala, India., Ryan E; GeneDx, Gaithersburg, Maryland, USA., Morrow M; GeneDx, Gaithersburg, Maryland, USA., Gorokhova S; Marseille Medical Genetics, Aix Marseille Université, Faculté Des Sciences Médicales Et Paramédicales, Marseille, France., Chabrol B; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Marseille, France., Sinisalo J; Helsinki University Central Hospital, Helsinki, Finland., Tolppanen H; Helsinki University Central Hospital, Helsinki, Finland., Tolva J; Transplantation Laboratory, Department of Pathology, University of Helsinki, Helsinki, Finland., Munell F; Unitat De Malalties Neuromusculars Pediàtriques, Hospital Universitari Vall D'Hebron, Barcelona, Spain., Camacho Soriano J; Histology Department, Vall D'Hebron University Hospital, Barcelona, Spain., Sanchez Duran MA; Maternal Fetal Medicine Unit, Department of Obstetrics, Universitat Autònoma de Barcelona, Hospital Vall D'Hebron, Barcelona, Spain., Johari M; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Tajsharghi H; Division of Biomedicine, School of Health Sciences, University of Skovde, Skovde, Sweden., Hackman P; Folkhälsan Research Center, Helsinki, Uusimaa, Finland., Udd B; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.; Department of Musculoskeletal Diseases, Tampere University Hospital, Tampere, Pirkanmaa, Finland., Savarese M; Folkhälsan Research Center, Helsinki, Uusimaa, Finland.
Publikováno v:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Oct; Vol. 11 (10), pp. 2745-2755. Date of Electronic Publication: 2024 Aug 28.
Autor:
Nematollahi S; Escuela de Fisioterapia y Terapia Ocupacional, Universidad McGill, Montreal, Canadá.; Departamento de Investigación Clínica, Hospitales Shriners para Niños, Montreal, Canadá., Dieterich K; Université Grenoble Alpes, Inserm U1209, Instituto de Biociencias Avanzadas, CHU Grenoble Alpes, Centro de Referencia de Artrogriposis y Neuromuscular, Grenoble, Francia., Filges I; Genética Médica, Instituto de Genética Médica y Patología y Departamento de Investigación Clínica, Hospital Universitario de Basilea y Universidad de Basilea, Basilea, Suiza., De Vries JIP; Obstetricia y Ginecología, Amsterdam Movement Sciences, Amsterdam, University Medical Center, Vrije Universiteit Medical Center, Amsterdam, the Países Bajos., Van Bosse H; Departamento de Cirugía Ortopédica, Cardinal Glennon Children's Hospital/SSM Health/St. Louis University, St. Louis, MO, EE.UU., Natera de Benito D; Unidad Neuromuscular, Hospital Sant Joan de Déu, Barcelona, España.; Investigación Aplicada en Enfermedades Neuromusculares, Institut de Recerca Sant Joan de Déu, Barcelona, España., Hall JG; Departamento de Genética Médica y Pediatría, Universidad de Columbia Británica y BC Children's Hospital, Vancouver, Columbia Británica, Canadá., Sawatzky B; Departamento de Ortopedia, Universidad de British Columbia, Vancouver, British Columbia Columbia, Canadá., Bedard T; Sistema de Vigilancia de Anomalías Congénitas de Alberta, Genética Clínica, Alberta Children's Hospital, Alberta Health Services, Calgary, Alberta, Canadá., Sanchez VC; Asociación Artrogriposis Múltiple Congénita España, Barcelona, Spain., Navalon-Martinez C; Asociación Artrogriposis Múltiple Congénita España, Barcelona, Spain., Pan T; Departamento de Informática Biomédica, Universidad de Emory, Atlanta, GA, EE.UU.; Instituto de Ingeniería y Ciencia de Datos, Instituto de Tecnología de Georgia, Atlanta, GA, EE.UU., Hilton C; Shriners Children's, Sede central, Tampa, FL, EE.UU., Dahan-Oliel N; Escuela de Fisioterapia y Terapia Ocupacional, Universidad McGill, Montreal, Canadá.; Departamento de Investigación Clínica, Hospitales Shriners para Niños, Montreal, Canadá.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Oct; Vol. 66 (10), pp. e192-e199. Date of Electronic Publication: 2024 Apr 06.
Autor:
Nematollahi S; École de physiothérapie et d'ergothérapie, Université de McGill, Montréal, QC, Canada.; Département de recherche clinique, Hôpitaux Shriners pour enfants du Canada, Montréal, Canada., Dieterich K; Inserm U1209, Institut des Biosciences Avancées, CHU Grenoble Alpes, Centre de référence de l'arthrogrypose et des maladies neuromusculaires, Université Grenoble Alpes, Grenoble, France., Filges I; Génétique médicale, Institut de génétique médicale et de pathologie et Département de recherche clinique, Hôpital universitaire de Bâle et Université de Bâle, Bâle, Suisse., De Vries JIP; Obstétrique et gynécologie, Amsterdam Movement Sciences, Amsterdam Centre médical universitaire, Centre médical de la Vrije Universiteit, Amsterdam, Pays-Bas., Van Bosse H; Département de chirurgie orthopédique, Hôpital pour enfants Cardinal Glennon/SSM Santé, Université de St. Louis University, St. Louis, MO, États-Unis., Natera-De Benito D; Unité neuromusculaire, Hôpital Sant Joan de Déu, Barcelone, Espagne.; Recherche appliquée en maladies neuromusculaires, Institut de Recerca Sant Joan de Déu, Barcelone, Espagne., Hall JG; Département de génétique médicale et de pédiatrie, Université de la Colombie-Britannique et BC hôpital pour enfants, Vancouver, Canada., Sawatzky B; Département d'orthopédie, Université de la Colombie-Britannique, Vancouver, Canada., Bedard T; Génétique clinique, Système de surveillance des anomalies congénitales de l'Alberta, Calgary, Alberta, Canada., Sanchez VC; Asociación Artrogriposis Múltiple Congénita España, Barcelone, Espagne., Navalon-Martinez C; Asociación Artrogriposis Múltiple Congénita España, Barcelone, Espagne., Pan T; Département d'informatique biomédicale, Université Emory, Atlanta, GA, États-Unis.; Département d'ingénierie et de la science des données, Institut de technologie de Géorgie, Atlanta, GA, États-Unis., Hilton C; Département d'Ingénierie et d'analyse des données, Shriners Children's, Siège social, Tampa, FL, États-Unis., Dahan-Oliel N; École de physiothérapie et d'ergothérapie, Université de McGill, Montréal, QC, Canada.; Département de recherche clinique, Hôpitaux Shriners pour enfants du Canada, Montréal, Canada.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Oct; Vol. 66 (10), pp. e200-e207. Date of Electronic Publication: 2024 Apr 09.
Autor:
Nematollahi S; School of Physical and Occupational Therapy, McGill University, Montreal, Canada.; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Canada., Dieterich K; Université Grenoble Alpes, Inserm U1209, Institute of Advanced Biosciences, CHU Grenoble Alpes, Arthrogryposis and Neuromuscular Reference Center, Grenoble, France., Filges I; Medical Genetics, Institute of Medical Genetics and Pathology and Department of Clinical Research, University Hospital Basel and University of Basel, Basel, Switzerland., De Vries JIP; Obstetrics and Gynecology, Amsterdam Movement Sciences, Amsterdam University Medical Center, Vrije Universiteit Medical Center, Amsterdam, the Netherlands., Van Bosse H; Department of Orthopaedic Surgery, Cardinal Glennon Children's Hospital/SSM Health/St. Louis University, St. Louis, MO, USA., Natera de Benito D; Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hall JG; Department of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, British Columbia, Canada., Sawatzky B; Department of Orthopaedics, University of British Columbia, Vancouver, British Columbia, Canada., Bedard T; Alberta Congenital Anomalies Surveillance System, Clinical Genetics, Alberta Children's Hospital, Alberta Health Services, Calgary, Alberta, Canada., Sanchez VC; Asociación Artrogriposis Múltiple Congénita España, Barcelona, Spain., Navalon-Martinez C; Asociación de Pacientes de Artrogriposis Multiple Congénita, Barcelona, Spain., Pan T; Department of Biomedical Informatics, Emory University, Atlanta, GA, USA.; Institute for Data Engineering and Science, Georgia Institute of Technology, Atlanta, GA, USA., Hilton C; Shriners Children's, Headquarters, Tampa, FL, USA., Dahan-Oliel N; School of Physical and Occupational Therapy, McGill University, Montreal, Canada.; Department of Clinical Research, Shriners Hospitals for Children, Montreal, Canada.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Oct; Vol. 66 (10), pp. 1340-1347. Date of Electronic Publication: 2024 Mar 16.
Autor:
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. Electronic address: daniel.natera@sjd.es., Pugliese A; IRCCS Centro Neurolesi 'Bonino-Pulejo', Neurology Unit, Messina, Italy., Polavarapu K; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Guergueltcheva V; Clinic of Neurology, University Hospital Sofiamed, Sofia University St. Kliment Ohridski, Sofia, Bulgaria., Tournev I; Department of Neurology, University Hospital 'Alexandrovska', Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria., Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Sofia Medical University, Sofia, Bulgaria., Afonso Ribeiro J; Neurology Department, Coimbra University Hospital Centre, Coimbra, Portugal., Fernández-Mayoralas DM; Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain., Ortez C; 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., Martorell L; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico, Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico, Barcelona, Spain., Jou C; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Lau J; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Thompson R; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Shen X; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Engel AG; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota., Nascimento A; 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., Lochmüller H; Children' s Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Laboratory of Neurogenetics and Molecular Medicine-IPER, Sant Joan de Deu Research Institute, Barcelona, Spain; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany., Selcen D; Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, Minnesota. Electronic address: selcen.duygu@mayo.edu.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2024 Aug; Vol. 157, pp. 5-13. Date of Electronic Publication: 2024 May 09.
Autor:
Natera-de Benito, D. *, Töpf, A., Vilchez, J.J., González-Quereda, L., Domínguez-Carral, J., Díaz-Manera, J., Ortez, C., Bestué, M., Gallano, P., Dusl, M., Abicht, A., Müller, J.S., Senderek, J., García-Ribes, A., Muelas, N., Evangelista, T., Azuma, Y., McMacken, G., Paipa Merchan, A., Rodríguez Cruz, P.M., Camacho, A., Jiménez, E., Miranda-Herrero, M.C., Santana-Artiles, A., García-Campos, O., Dominguez-Rubio, R., Olivé, M., Colomer, J., Beeson, D., Lochmüller, H., Nascimento, A.
Publikováno v:
In Neuromuscular Disorders December 2017 27(12):1087-1098