Genotype-phenotype correlations in recessive titinopathies.

Filiacions

Savarese M:

Folkhälsan Research Center, Helsinki, Finland.

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland.

Vihola A:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Neuromuscular Research Center, Fimlab Laboratories, Tampere University and University Hospital, Tampere, Finland

Oates EC:

School of Biotechnology & Biomolecular Sciences, University of New South Wales, Sydney, Australia

Barresi R:

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

Fiorillo C:

Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

Tasca G:

Unità Operativa Complessa di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

Jokela M:

Neuromuscular Research Center, Tampere University Hospital and Tampere University, Tampere, Finland

Sarkozy A:

Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK

Luo S:

Department of Neurology, Huashan Hospital Fudan University, Shanghai, China

Díaz-Manera J:

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

John Walton Muscular Dystrophy Research Center, University of Newcastle, Newcastle, UK

Ehrstedt C:

Department of Women and Childrens Health, Section for Paediatrics, Uppsala University, Uppsala, Sweden

Uppsala University Childrens Hospital, Uppsala, Sweden

Rojas-García R:

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

Sáenz A:

Group of Neuromuscular Diseases, Neurosciences Area, Biodonostia Health Research Institute, San Sebastián, Spain

Muelas N:

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

Instituto de Investigación. Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain

Lonardo F:

UOSD Genetica Medica, AO Rummo, Benevento, Italy

Fodstad H:

Department of Laboratory Medicine and Pathology, Division of Genetic Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland

Qureshi T:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Johari M:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Välipakka S:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Luque H:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Petiot P:

Hospices Civils de Lyon, Explorations Fonctionnelles Neurologiques, Hôpital de la Croix Rousse, Lyon, France

de Munain AL:

Group of Neuromuscular Diseases, Neurosciences Area, Biodonostia Health Research Institute, San Sebastián, Spain

Pane M:

Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Roma, Italy

Mercuri E:

Pediatric Neurology and Nemo Clinical Centre, Fondazione Policlinico Universitario A. Gemelli IRCSS, Università Cattolica del Sacro Cuore, Roma, Italy

Torella A:

Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy, Caserta, Italy

Nigro V:

Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy, Caserta, Italy

Astrea G:

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy

Santorelli FM:

Molecular Medicine, IRCCS Fondazione Stella Maris, Pisa, Italy

Bruno C:

Paediatric Neurology and Neuromuscular Disorders Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

Kuntzer T:

Department of Neurosciences, Nerve-Muscle Unit, Lausanne University Hospital (CHUV), 1011, Lausanne, Switzerland

Illa I:

Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

Vílchez JJ:

Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain

Instituto de Investigación. Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular and Ataxias Research Group, Instituto de Investigación Sanitaria La Fe, Valencia, Spain

Julien C:

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), Institut de Myologie, GH Pitié-Salpêtrière, Paris, France

Ferreiro A:

Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), Institut de Myologie, GH Pitié-Salpêtrière, Paris, France

Basic and Translational Myology Lab, UMR8251 BFA, Université de Paris/CNRS, Paris, France

Malandrini A:

Neurology and Neurometabolic Unit, Department of Medicine, Surgery, and Neurosciences, University of Siena, Siena, Italy

Zhao CB:

Department of Neurology, Huashan Hospital Fudan University, Shanghai, China

Casar-Borota O:

Department of Clinical Pathology, Uppsala University Hospital, Uppsala, Sweden

Davis M:

Department of Diagnostic Genomics, Department of Health, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia

Muntoni F:

Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK

NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK

Hackman P:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Udd B:

Folkhälsan Research Center, Helsinki, Finland

Department of Medical Genetics, Medicum, University of Helsinki, Helsinki, Finland

Department of Neurology, Vaasa Central Hospital, Vaasa, Finland