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作者：
Gillian I,Rice [1]
;
Naoki,Kitabayashi [2]
;
Magalie,Barth [3]
;
Tracy A,Briggs [4]
;
Annabel C E,Burton [1]
;
Maria Luisa,Carpanelli [5]
;
Alfredo M,Cerisola [6]
;
Cindy,Colson [7]
;
Russell C,Dale [8]
;
Federica Rachele,Danti [9]
;
Niklas,Darin [10]
;
Begoña,De Azua [11]
;
Valentina,De Giorgis [12]
;
Christian G L,De Goede [13]
;
Isabelle,Desguerre [14]
;
Corinne,De Laet [15]
;
Atieh,Eslahi [16]
;
Michael C,Fahey [17]
;
Penny,Fallon [18]
;
Alex,Fay [19]
;
Elisa,Fazzi [20]
;
Mark P,Gorman [21]
;
Nirmala Rani,Gowrinathan [22]
;
Marie,Hully [23]
;
Manju A,Kurian [24]
;
Nicolas,Leboucq [25]
;
Jean-Pierre S-M,Lin [26]
;
Matthew A,Lines [18]
;
Soe S,Mar [11]
;
Reza,Maroofian [12]
;
Laura,Martí-Sanchez [27]
;
Gary,McCullagh [28]
;
Majid,Mojarrad [29]
;
Vinodh,Narayanan [30]
;
Simona,Orcesi [31]
;
Juan Dario,Ortigoza-Escobar [32]
;
Belén,Pérez-Dueñas [33]
;
Florence,Petit [20]
;
Keri M,Ramsey [34]
;
Magnhild,Rasmussen [16]
;
François,Rivier [32]
;
Pilar,Rodríguez-Pombo [32]
;
Agathe,Roubertie [9]
;
Tommy I,Stödberg [34]
;
Mehran Beiraghi,Toosi [35]
;
Annick,Toutain [36]
;
Florence,Uettwiller [37]
;
Nicole,Ulrick [38]
;
Adeline,Vanderver [36]
;
Amy,Waldman [39]
;
John H,Livingston [40]
;
Yanick J,Crow [41]
作者单位：
Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom.
[1]
Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.
[2]
Sorbonne-Paris-Cité, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris Descartes University, Paris, France.
[3]
Department of Genetics, CHU Angers, Angers, France.
[4]
Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St Mary's Hospital, Manchester, United Kingdom.
[5]
Department of Paediatrics and Child Health, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
[6]
Department of Child Neurology and Psychiatry, A. Manzoni Hospital, Lecco, Italy.
[7]
Department of Pediatric Neurology, Facultad de Medicina, UDELAR, Montevideo, Uruguay.
[8]
Clinique de Génétique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.
[9]
Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
[10]
Department of Developmental Neurosciences, Institute of Child Health, UCL, London, United Kingdom.
[11]
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
[12]
Department of Paediatrics, Child Neurology and Psychiatry, Sapienza University, Rome, Italy.
[13]
Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.
[14]
Department of Pediatrics, Hospital Son Llátzer, Palma de Mallorca, Spain.
[15]
Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy.
[16]
Department of Paediatric Neurology, Royal Preston Hospital, Preston, United Kingdom.
[17]
Department of Paediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
[18]
Nutrition and metabolic Unit, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
[19]
Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
[20]
Department of Paediatrics, Monash University, Melbourne, Australia.
[21]
Department of Paediatric Neurology, St George's University Hospitals NHS Foundation Trust, London, United Kingdom.
[22]
Department of Neurology, University of California, California, San Francisco, United States.
[23]
Unit of Child Neurology and Psychiatry, Department of Clinical and Experimental Sciences, Civil Hospital, University of Brescia, Brescia, Italy.
[24]
Department of Neurology, Boston Children's Hospital, Boston, United States.
[25]
Department of Neurology, Kaiser Permanente, Los Angeles, United States.
[26]
Neuroradiologie, CHU de Montpellier, Montpellier, France.
[27]
General Neurology and Complex Motor Disorders Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, United Kingdom.
[28]
Department of Pediatrics, University of Ottawa, Ottawa, Canada.
[29]
Department of Pediatric Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, United States.
[30]
Medical Research, RILD Wellcome Wolfson Centre, Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
[31]
Department of Child Neurology, Hospital Sant Joan de Déu, Esplugues de Llobregat, Catalonia, Spain.
[32]
Department of Paediatric Neurology, Royal Manchester Children's Hospital, Manchester, United Kingdom.
[33]
Neurogenomics Division, Center for Rare Childhood Disorders, TGen - The Translational Genomics Research Institute, Phoenix, United States.
[34]
Department of Clinical Neurosciences for Children, and Unit for Congenital and Hereditary Neuromuscular Disorders, Oslo University Hospital, Oslo, Norway.
[35]
Department of Neuropédiatrie and CR Maladies Neuromusculaires, CHU de Montpellier, France.
[36]
PhyMedExp, University of Montpellier, INSERM U1046, CNRS UMR 9214, Montpellier, France.
[37]
Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma Madrid, CIBERER, IDIPAZ, Madrid, Spain.
[38]
INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.
[39]
Neuropediatric Unit, Karolinska University Hospital, Stockholm, Sweden.
[40]
Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
[41]
Service de Génétique, CHU de Tours, Tours, France.
[42]
Pediatric Immunology-Hematology and Rheumatology Unit, Institut Imagine, Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
[43]
Department of Allergology and Clinical Immunology, CHRU Tours, Tours, France.
[44]
Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, United States.
[45]
Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom.
[46]
主题词
腺苷脱氨酶(Adenosine Deaminase);青少年(Adolescent);成年人(Adult);神经系统自身免疫疾病(Autoimmune Diseases of the Nervous System);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);婴儿(Infant);干扰素Ⅰ型(Interferon Type I);男(雄)性(Male);突变(Mutation);神经系统畸形(Nervous System Malformations);表型(Phenotype);RNA结合蛋白质类(RNA-Binding Proteins);青年人(Young Adult)
DOI
10.1055/s-0037-1601449
PMID
28561207
发布时间
2021-01-09
- 浏览44
Neuropediatrics
Neuropediatrics
166-184页
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