第一单位：
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
作者：
Agatha,Schlüter [1]
;
Valentina,Vélez-Santamaría [2]
;
Edgard,Verdura [1]
;
Agustí,Rodríguez-Palmero [3]
;
Montserrat,Ruiz [1]
;
Stéphane,Fourcade [1]
;
Laura,Planas-Serra [1]
;
Nathalie,Launay [1]
;
Cristina,Guilera [1]
;
Juan José,Martínez [1]
;
Christian,Homedes-Pedret [4]
;
M Antonia,Albertí-Aguiló [5]
;
Miren,Zulaika [6]
;
Itxaso,Martí [7]
;
Mónica,Troncoso [8]
;
Miguel,Tomás-Vila [9]
;
Gemma,Bullich [10]
;
M Asunción,García-Pérez [11]
;
María-Jesús,Sobrido-Gómez [12]
;
Eduardo,López-Laso [13]
;
Carme,Fons [14]
;
Mireia,Del Toro [15]
;
Alfons,Macaya [15]
;
HSP/ataxia workgroup [16]
;
Sergi,Beltran [17]
;
Luis G,Gutiérrez-Solana [18]
;
Luis A,Pérez-Jurado [19]
;
Sergio,Aguilera-Albesa [20]
;
Adolfo López,de Munain [21]
;
Carlos,Casasnovas [22]
;
Aurora,Pujol
作者单位：
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.
[1]
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Neurology Department, Neuromuscular Unit, Bellvitge University Hospital, Universitat de Barcelona, Barcelona, Spain.
[2]
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Pediatric Neurology Unit, Pediatrics Department, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain.
[3]
Neurology Department, Neuromuscular Unit, Bellvitge University Hospital, Universitat de Barcelona, Barcelona, Spain.;Neurology Department, Hospital Universitari General de Catalunya, Barcelona, Spain.
[4]
Neurology Department, Neuromuscular Unit, Bellvitge University Hospital, Universitat de Barcelona, Barcelona, Spain.
[5]
Neuromuscular Area, Group of Neurodegenerative Diseases, Biodonostia Health Research Institute (Biodonostia HRI), San Sebastian, Spain.;Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), ISCIII, Madrid, Spain.
[6]
Neuromuscular Area, Group of Neurodegenerative Diseases, Biodonostia Health Research Institute (Biodonostia HRI), San Sebastian, Spain.;Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), ISCIII, Madrid, Spain.;Pediatric Neurology Department, Donostia University Hospital, University of the Basque Country (UPV-EHU), San Sebastian, Spain.
[7]
Pediatric Neurology Department, Central Campus, Hospital Clínico San Borja Arriarán, Universidad de Chile, Santiago, Chile.
[8]
Neuropediatrics Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.
[9]
Centro Nacional Análisis Genómico (CNAG) - Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.
[10]
Pediatric Neurology Unit, Pediatrics Department, Hospital Universitario Fundación Alcorcón, Madrid, Spain.
[11]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Coruña Institute of Biomedical Research (INIBIC), A Coruña, Spain.;Hospital Clínico Universitario, A Coruña, Spain.
[12]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Pediatric Neurology Unit, Pediatrics Department, Reina Sofía University Hospital, Córdoba, Spain.;Maimonides Institute For Biomedical Research of Cordoba (IMIBIC), Córdoba, Spain.
[13]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Pediatric Neurology Department, Sant Joan de Déu University Hospital, Member of the ERN EpiCARE, Barcelona, Spain.;Sant Joan de Déu Research Institute, (IRSJD), Barcelona, Spain.
[14]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Pediatric Neurology Department, Vall d'Hebron University Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain.;Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona, Barcelona, Spain.
[15]
Centro Nacional Análisis Genómico (CNAG) - Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Baldiri Reixac 4, Barcelona, Spain.;Universitat Pompeu Fabra (UPF), Barcelona, Spain.;Departament de Genètica, Facultat de Biologia, Microbiologia i Estadística, Universitat de Barcelona (UB), Barcelona, 08028, Spain.
[16]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Pediatric Neurology Department, Children's University Hospital Niño Jesús, Madrid, Spain.
[17]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain.;Genetics Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.;Department of Experimental and Health Sciences, Universitat Pompeu Fabra, Barcelona, Spain.
[18]
Pediatric Neurology Unit, Pediatrics Department, Navarra Health Service, Pamplona, Spain.;Navarrabiomed, Biomedical Research Center, Pamplona, Spain.
[19]
Neuromuscular Area, Group of Neurodegenerative Diseases, Biodonostia Health Research Institute (Biodonostia HRI), San Sebastian, Spain.;Network Center for Biomedical Research in Neurodegenerative Diseases (CIBERNED), ISCIII, Madrid, Spain.;Neurology Department, Donostia University Hospital, San Sebastian, Spain.
[20]
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain. carloscasasnovas@bellvitgehospital.cat.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. carloscasasnovas@bellvitgehospital.cat.;Neurology Department, Neuromuscular Unit, Bellvitge University Hospital, Universitat de Barcelona, Barcelona, Spain. carloscasasnovas@bellvitgehospital.cat.
[21]
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Hospital Duran i Reynals, Gran Via 199, L'Hospitalet de Llobregat, Barcelona, 08908, Spain. apujol@idibell.cat.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. apujol@idibell.cat.;Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain. apujol@idibell.cat.
[22]
DOI
10.1186/s13073-023-01214-2
PMID
37679823
发布时间
2023-11-23
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