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作者：
Lucia,Laugwitz [1]
;
Rebecca,Buchert [2]
;
Patricio,Olguín [3]
;
Mehrdad A,Estiar [4]
;
Mihaela,Atanasova [5]
;
Wilson Marques,Jr [6]
;
Jörg,Enssle [2]
;
Brian,Marsden [5]
;
Javiera,Avilés [3]
;
Andrés,González-Gutiérrez [3]
;
Noemi,Candia [3]
;
Marietta,Fabiano [7]
;
Susanne,Morlot [8]
;
Susana,Peralta [2]
;
Alisa,Groh [2]
;
Carmen,Schillinger [2]
;
Carolin,Kuehn [2]
;
Linda,Sofan [2]
;
Marc,Sturm [2]
;
Benjamin,Bender [9]
;
Pedro J,Tomaselli [6]
;
Uta,Diebold [10]
;
Amelie J,Mueller [2]
;
Stephanie,Spranger [11]
;
Maren,Fuchs [12]
;
Fernando,Freua [13]
;
Uirá Souto,Melo [14]
;
Lauren,Mattas [15]
;
Setareh,Ashtiani [16]
;
Oksana,Suchowersky [17]
;
Samuel,Groeschel [18]
;
Guy A,Rouleau [19]
;
Keren,Yosovich [20]
;
Marina,Michelson [21]
;
Zvi,Leibovitz [22]
;
Muhammad,Bilal [23]
;
Eyyup,Uctepe [24]
;
Ahmet,Yesilyurt [25]
;
Orhan,Ozdogan [26]
;
Tamer,Celik [26]
;
Ingeborg,Krägeloh-Mann [18]
;
Olaf,Riess [27]
;
Hendrik,Rosewich [28]
;
Muhammad,Umair [29]
;
Dorit,Lev [30]
;
Stephan,Zuchner [31]
;
Ulrich,Schweizer [7]
;
David S,Lynch [32]
;
Ziv,Gan-Or [33]
;
Tobias B,Haack [27]
作者单位：
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany. Electronic address: lucia.laugwitz@med.uni-tuebingen.de.
[1]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
[2]
Department of Neuroscience, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile; Program of Human Genetics, Biomedical Sciences Institute, Facultad de Medicina, Universidad de Chile, Santiago 8380453, Chile.
[3]
Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Human Genetics, McGill University, Montreal, QC, Canada.
[4]
Centre for Medicines Discovery, Nuffield Department of Medicine, University of Oxford, Oxford, UK.
[5]
Neuroscience and Behavioral Sciences Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14048-900, Brazil.
[6]
Institut für Biochemie und Molekularbiologie, Uniklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53115 Bonn, Germany.
[7]
Department of Human Genetics, Hannover Medical School, Hanover, Germany.
[8]
Diagnostic and Interventional Neuroradiology, Radiologic Clinics, University of Tübingen, 72076 Tübingen, Germany.
[9]
Social Pediatric Center, Auf der Bult, Hannover, Germany.
[10]
MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.
[11]
Sozialpädiatrisches Zentrum (SPZ), Allgemeines Krankenhaus Celle, 29221 Celle, Germany.
[12]
Division of Clinical Neurology, Hospital das Clinicas da Universidade de São Paulo, São Paulo, Brazil.
[13]
Max Planck Institute for Molecular Genetics, RG Development & Disease, Berlin, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
[14]
Department of Pediatrics, Division of Medical Genetics, Stanford Medicine, Stanford, CA, USA.
[15]
Alberta Children's Hospital, Medical Genetics, Calgary, AB, Canada.
[16]
Departments of Medicine (Neurology) and Medical Genetics, University of Alberta, Edmonton, AB, Canada.
[17]
Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany.
[18]
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada; Department of Human Genetics, McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.
[19]
Molecular Genetic Lab, Wolfson Medical Center, Holon 58100, Israel.
[20]
The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel.
[21]
Obstetrics & Gynecology Ultrasound Unit, Bnai Zion Medical Center, Rappaport Faculty of Medicine, Technion-Israel Institute, Haifa, Israel.
[22]
Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi 74800, Pakistan.
[23]
Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.
[24]
Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey; Acibadem Maslak Hospital, Istanbul, Turkey.
[25]
Departman of Pediatric Neurology, Adana City Training and Research Hospital, Adana, Turkey.
[26]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany; Center for Rare Disease, University of Tübingen, 72076 Tübingen, Germany; Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE).
[27]
Neuropediatrics, General Paediatrics, Diabetology, Endocrinology and Social Paediatrics, University of Tübingen, University Hospital Tübingen, 72016 Tübingen, Germany; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Göttingen, Germany.
[28]
Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia (KSA); Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan.
[29]
Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon 58100, Israel.
[30]
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
[31]
Department of Neurogenetics, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK; NIHR University College London Hospitals Biomedical Research Centre, London, UK.
[32]
Department of Human Genetics, McGill University, Montreal, QC, Canada; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, QC, Canada; Department of Neurology and Neurosurgery, McGill University, Montréal, QC, Canada.
[33]
主题词
人类(Humans);硒蛋白质类(Selenoproteins);男(雄)性(Male);女(雌)性(Female);动物(Animals);神经变性疾病(Neurodegenerative Diseases);儿童(Child);儿童, 学龄前(Child, Preschool);系谱(Pedigree);婴儿(Infant);突变(Mutation);表型(Phenotype);硒代半胱氨酸(Selenocysteine);等位基因(Alleles);果蝇属(Drosophila);青少年(Adolescent)
DOI
10.1016/j.ajhg.2024.12.001
PMID
39753114
发布时间
2025-01-19
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American journal of human genetics
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