Neurodevelopmental Gene-Related Dystonia: A Pediatric Case with NAA15 Variant.

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第一作者： Delia,Yubero

第一单位： Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.

作者： Delia,Yubero ^[1] ; Loreto,Martorell ^[2] ; Tania,Nunes ^[1] ; Gholson J,Lyon ^[2] ; Juan Darío,Ortigoza-Escobar ^[3]

作者单位： Department of Genetic and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. ^[1] U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. ^[2] Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain. ^[3] Department of Human Genetics and Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA. ^[4] Biology PhD Program, The Graduate Center, The City University of New York, New York, New York, USA. ^[5] Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain. ^[6] European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany. ^[7]

主题词人类(Humans);儿童(Child);张力失调(Dystonia);张力障碍(Dystonic Disorders)

DOI 10.1002/mds.29241

PMID 36221186

发布时间 2023-06-15

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