Your browser doesn't support javascript.
loading
Genotype-phenotype correlations in recessive titinopathies.
Savarese, Marco; Vihola, Anna; Oates, Emily C; Barresi, Rita; Fiorillo, Chiara; Tasca, Giorgio; Jokela, Manu; Sarkozy, Anna; Luo, Sushan; Díaz-Manera, Jordi; Ehrstedt, Christoffer; Rojas-García, Ricardo; Sáenz, Amets; Muelas, Nuria; Lonardo, Fortunato; Fodstad, Heidi; Qureshi, Talha; Johari, Mridul; Välipakka, Salla; Luque, Helena; Petiot, Philippe; de Munain, Adolfo López; Pane, Marika; Mercuri, Eugenio; Torella, Annalaura; Nigro, Vincenzo; Astrea, Guja; Santorelli, Filippo Maria; Bruno, Claudio; Kuntzer, Thierry; Illa, Isabel; Vílchez, Juan J; Julien, Cedric; Ferreiro, Ana; Malandrini, Alessandro; Zhao, Chong-Bo; Casar-Borota, Olivera; Davis, Mark; Muntoni, Francesco; Hackman, Peter; Udd, Bjarne.
  • Savarese M; Folkhälsan Research Center, Helsinki, Finland. marco.savarese@helsinki.fi.
  • Vihola A; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland. marco.savarese@helsinki.fi.
  • Oates EC; Folkhälsan Research Center, Helsinki, Finland.
  • Barresi R; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Fiorillo C; Neuromuscular Research Center, Fimlab Laboratories, Tampere University and University Hospital, Tampere, Finland.
  • Tasca G; School of Biotechnology & Biomolecular Sciences, University of New South Wales, Sydney, Australia.
  • Jokela M; Rare Diseases Advisory Group Service for Neuromuscular Diseases, Muscle Immunoanalysis Unit, Dental Hospital, and The John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Translational and Clinical Research Institute, University of Newcastle, Newcastle upon Tyne, UK
  • Sarkozy A; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Luo S; Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Díaz-Manera J; Neuromuscular Research Center, Tampere University Hospital and Tampere University, Tampere, Finland.
  • Ehrstedt C; Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Rojas-García R; Department of Neurology, Huashan Hospital Fudan University, Shanghai, China.
  • Sáenz A; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.
  • Muelas N; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
  • Lonardo F; John Walton Muscular Dystrophy Research Center, University of Newcastle, Newcastle, UK.
  • Fodstad H; Department of Women and Childrens Health, Section for Paediatrics, Uppsala University, Uppsala, Sweden.
  • Qureshi T; Uppsala University Childrens Hospital, Uppsala, Sweden.
  • Johari M; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.
  • Välipakka S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
  • Luque H; Group of Neuromuscular Diseases, Neurosciences Area, Biodonostia Health Research Institute, San Sebastián, Spain.
  • Petiot P; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
  • de Munain AL; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain.
  • Pane M; UOSD Genetica Medica, AO Rummo, Benevento, Italy.
  • Mercuri E; Department of Laboratory Medicine and Pathology, Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.
  • Torella A; Folkhälsan Research Center, Helsinki, Finland.
  • Nigro V; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Astrea G; Folkhälsan Research Center, Helsinki, Finland.
  • Santorelli FM; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Bruno C; Folkhälsan Research Center, Helsinki, Finland.
  • Kuntzer T; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Illa I; Folkhälsan Research Center, Helsinki, Finland.
  • Vílchez JJ; Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
  • Julien C; Hospices Civils de Lyon, Explorations Fonctionnelles Neurologiques, Hôpital de la Croix Rousse, Lyon, France.
  • Ferreiro A; Group of Neuromuscular Diseases, Neurosciences Area, Biodonostia Health Research Institute, San Sebastián, Spain.
  • Malandrini A; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Zhao CB; Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Casar-Borota O; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy, Caserta, Italy.
  • Davis M; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy, Caserta, Italy.
  • Muntoni F; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Hackman P; Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Udd B; Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Genet Med ; 22(12): 2029-2040, 2020 12.
Article en En | MEDLINE | ID: mdl-32778822
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Hipotonía Muscular Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Secuenciación de Nucleótidos de Alto Rendimiento / Hipotonía Muscular Tipo de estudio: Prognostic_studies Límite: Child / Humans Idioma: En Año: 2020 Tipo del documento: Article