第一单位：
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.;CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
作者：
Irene,Madrigal [1]
;
Cristina,Villar-Vera [2]
;
Gemma,Arca [3]
;
Jesica,Expósito-Escudero [4]
;
Laia,Rodríguez-Revenga [1]
;
Andres,Piolatti-Luna [2]
;
Nuria,Muelas [5]
;
Roger,Vilchez [6]
;
Maria,Ciutad Celdran [7]
;
Anna,Codina [8]
;
Berta,Estévez-Arias [9]
;
Laura,Carrera-Garcia [4]
;
Carlos,Ortez [4]
;
Leonardo,Rodriguez-Carunchio [10]
;
Giorgia,Sebastiani [7]
;
Inmaculada,Azorin [6]
;
Andrés,Nascimento [11]
;
Cristina,Jou [12]
;
Juan Jesus,Vilchez [13]
;
Daniel,Natera-de Benito [4]
作者单位：
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.;CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
[1]
Department of Paediatrics, Hospital Clinico Universitario de Valencia, Valencia, Spain.
[2]
Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona and Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain.;Department of Neonatology, BCNatal, Hospital Clinic Barcelona, Barcelona, Spain.
[3]
Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain.;Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
[4]
CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.;Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.;Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari i Politècnic La Fe, Valencia, Spain.;Neuromuscular Reference Centre, ERN-EURO-NMD, Valencia, Spain.;Department of Medicine, University of Valencia, Valencia, Spain.
[5]
CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.;Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
[6]
Department of Neonatology, BCNatal, Hospital Clinic Barcelona, Barcelona, Spain.
[7]
Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
[8]
Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain.;Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
[9]
Department of Pathology, Hospital Clinic, Barcelona, Spain.
[10]
CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.;Neuromuscular Unit, Hospital Sant Joan de Déu, Barcelona, Spain.;Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
[11]
CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, 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.
[12]
CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.;Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.;Department of Medicine, University of Valencia, Valencia, Spain.
[13]
DOI
10.1111/nan.70025
PMID
40488356
发布时间
2025-09-07
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