第一单位：
Department of Neurology, Hospital Francesc de Borja, Gandía, Spain. rafasivera@gmail.com.
作者：
Rafael,Sivera [1]
;
Marina,Frasquet [2]
;
Vincenzo,Lupo [3]
;
Tania,García-Sobrino [4]
;
Patricia,Blanco-Arias [5]
;
Julio,Pardo [4]
;
Roberto,Fernández-Torrón [6]
;
Adolfo López,de Munain [7]
;
Celedonio,Márquez-Infante [8]
;
Liliana,Villarreal [8]
;
Pilar,Carbonell [8]
;
Ricard,Rojas-García [9]
;
Sonia,Segovia [10]
;
Isabel,Illa [9]
;
Anna Lia,Frongia [11]
;
Andrés,Nascimento [12]
;
Carlos,Ortez [12]
;
María Del Mar,García-Romero [13]
;
Samuel Ignacio,Pascual [14]
;
Ana Lara,Pelayo-Negro [15]
;
José,Berciano [15]
;
Antonio,Guerrero [16]
;
Carlos,Casasnovas [17]
;
Ana,Camacho [18]
;
Jesús,Esteban [19]
;
María José,Chumillas [20]
;
Marisa,Barreiro [21]
;
Carmen,Díaz [22]
;
Francesc,Palau [23]
;
Juan Jesús,Vílchez [24]
;
Carmen,Espinós [3]
;
Teresa,Sevilla [24]
作者单位：
Department of Neurology, Hospital Francesc de Borja, Gandía, Spain. rafasivera@gmail.com.
[1]
Department of Neurology, Hospital Universitari i Politécnic La Fe, Valencia, Spain.;Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain.
[2]
Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders and Service of Genomics and Traslational Geneticis, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
[3]
Department of Neurology, Hospital Clínico, Santiago de Compostela, Spain.
[4]
Neurogenetics Research Group, Instituto de Investigaciones Sanitarias (IDIS), Santiago de Compostela, Spain.;Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.
[5]
Neuromuscular Disorders Unit, Neurology Department, Hospital Donostia, San Sebastián, Spain.;The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.;Neuroscience Area, Biodonostia Health Research Institute, San Sebastián, Spain.;Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.
[6]
Neuromuscular Disorders Unit, Neurology Department, Hospital Donostia, San Sebastián, Spain.;Neuroscience Area, Biodonostia Health Research Institute, San Sebastián, Spain.;Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.;Department of Neurosciences, School of Medicine, University of the Basque Country (EHU-UPV), San Sebastián, Spain.
[7]
Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
[8]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.;Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
[9]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.
[10]
Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain.
[11]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.;Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Déu, Fundacion Sant Joan de Deu, Barcelona, Spain.
[12]
Neuropaediatrics Department, Hospital la Paz, Madrid, Spain.
[13]
Neuropaediatrics Department, Hospital la Paz, Madrid, Spain.;Department of Pediatrics, Universidad Autónoma de Madrid, Madrid, Spain.
[14]
Center for Biomedical Research in the Neurodegenerative Diseases (CIBERNED) Network, Instituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.;Department of Neurology, University Hospital "Marqués de Valdecilla (IDIVAL)", Santander, Spain.;University of Cantabria (UC), Santander, Spain.
[15]
Neuromuscular Diseases Unit, Department of Neurology, Hospital Clínico San Carlos, Madrid, Spain.
[16]
Neuromuscular Diseases Unit, Department of Neurology, Hospital Universitari de Bellvitge - IDIBELL, Barcelona, Spain.
[17]
Child Neurology Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.;Facultad de Medicina, Universidad Complutense, Madrid, Spain.
[18]
Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.;Department of Neurology, Hospital Ruber Internacional, Madrid, Spain.
[19]
Department of Neurophysiology, Hospital Universitari I Politécnic La Fe, Valencia, Spain.
[20]
Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain.
[21]
Department of Neurology, Hospital General de Alicante, Alicante, Spain.
[22]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.;Institut de Recerca Sant Joan de Déu and Hospital Sant Joan de Déu, Barcelona, Spain.;Hospital Clínic, Barcelona, Spain.;Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain.
[23]
Department of Neurology, Hospital Universitari i Politécnic La Fe, Valencia, Spain.;Neuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Intituto Carlos III, Ministry of Economy and Competitiviness, Madrid, Spain.;Department of Medicine, University of Valencia, Valencia, Spain.
[24]
DOI
10.1038/s41598-017-06894-6
PMID
28751717
发布时间
2019-05-01
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