换一批
第一作者：
Yuji,Nakamura
第一单位：
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.
作者：
Yuji,Nakamura [1]
;
Issei S,Shimada [2]
;
Reza,Maroofian [3]
;
Micol,Falabella [3]
;
Maha S,Zaki [4]
;
Masanori,Fujimoto [1]
;
Emi,Sato [1]
;
Hiroshi,Takase [5]
;
Shiho,Aoki [6]
;
Akihiko,Miyauchi [6]
;
Eriko,Koshimizu [7]
;
Satoko,Miyatake [8]
;
Yuko,Arioka [9]
;
Mizuki,Honda [10]
;
Takayoshi,Higashi [11]
;
Fuyuki,Miya [12]
;
Yukimune,Okubo [13]
;
Isamu,Ogawa [14]
;
Annarita,Scardamaglia [3]
;
Mohammad,Miryounesi [15]
;
Sahar,Alijanpour [15]
;
Farzad,Ahmadabadi [16]
;
Peter,Herkenrath [17]
;
Hormos Salimi,Dafsari [18]
;
Clara,Velmans [19]
;
Mohammed,Al Balwi [20]
;
Antonio,Vitobello [21]
;
Anne-Sophie,Denommé-Pichon [21]
;
Médéric,Jeanne [22]
;
Antoine,Civit [23]
;
Mohamed S,Abdel-Hamid [24]
;
Hamed,Naderi [25]
;
Hossein,Darvish [25]
;
Somayeh,Bakhtiari [26]
;
Michael C,Kruer [26]
;
Christopher J,Carroll [27]
;
Ehsan,Ghayoor Karimiani [27]
;
Rozhgar A,Khailany [28]
;
Talib Adil,Abdulqadir [29]
;
Mehmet,Ozaslan [30]
;
Peter,Bauer [31]
;
Giovanni,Zifarelli [31]
;
Tahere,Seifi [32]
;
Mina,Zamani [32]
;
Chadi,Al Alam [33]
;
Javeria Raza,Alvi [34]
;
Tipu,Sultan [3]
;
Stephanie,Efthymiou [3]
;
Simon A S,Pope [35]
;
Kazuhiro,Haginoya [13]
;
Tamihide,Matsunaga [14]
;
Hitoshi,Osaka [6]
;
Naomichi,Matsumoto [7]
;
Norio,Ozaki [9]
;
Yasuyuki,Ohkawa [36]
;
Shinya,Oki [37]
;
Tatsuhiko,Tsunoda [38]
;
Robert D S,Pitceathly [39]
;
Yoshitaka,Taketomi [11]
;
Henry,Houlden [3]
;
Makoto,Murakami [11]
;
Yoichi,Kato [2]
;
Shinji,Saitoh [1]
作者单位：
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.
[1]
Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.
[2]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
[3]
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
[4]
Core Laboratory, Nagoya City University Graduate School of Medical Sciences, Nagoya 4678601, Japan.
[5]
Department of Pediatrics, Jichi Medical University, Tochigi 3290498, Japan.
[6]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.
[7]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 2360004, Japan.;Department of Clinical Genetics, Yokohama City University Hospital, Yokohama 2360004, Japan.
[8]
Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Nagoya 4668550, Japan.
[9]
Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.;Laboratory of Molecular and Cellular Physiology, Graduate School of Integrated Sciences for Life, Hiroshima University, Hiroshima 7398526, Japan.
[10]
Laboratory of Microenvironmental and Metabolic Health Sciences, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo 1138655, Japan.
[11]
Center for Medical Genetics, Keio University School of Medicine, Tokyo, 1608582, Japan.
[12]
Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 9893126, Japan.
[13]
Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University, Nagoya 4678603, Japan.
[14]
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1516745811, Iran.
[15]
Pediatric Neurology Department, Faculty of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1546815514, Iran.
[16]
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.
[17]
Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50937, Germany.;Max-Planck-Institute for Biology of Ageing, Cologne 50931, Germany.;Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne 50931, Germany.
[18]
Faculty of Medicine and University Hospital Cologne, Institute of Human Genetics, University of Cologne, Cologne 50931, Germany.
[19]
Department of Pathology and Laboratory Medicine, College of Medicine, KSAU-HS, Ministry of National Guard Health Affairs, Riyadh 11426, Saudi Arabia.
[20]
Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne University Hospital, Dijon 21000, France.;INSERM UMR1231 GAD 'Génétique des Anomalies du Développement', FHU-TRANSLAD, University of Burgundy, Dijon 21000, France.
[21]
Genetics Department, University Hospital of Tours, Tours 37044, France.;UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.
[22]
Genetics Department, University Hospital of Tours, Tours 37044, France.
[23]
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.
[24]
Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan 4918936316, Iran.
[25]
Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.;Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, AZ 85004, USA.
[26]
Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London SW17 0RE, UK.
[27]
Department of Basic Science, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq.
[28]
Department of Pediatrics, College of Medicine, Hawler Medical University, Erbil, Kurdistan Region 44001, Iraq.
[29]
Department of Biology, Division of Molecular Biology and Genetics, Gaziantep University, Gaziantep 27410, Turkey.
[30]
Centogene GmbH, Rostock 18055, Germany.
[31]
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 83151-61355, Iran.;Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.
[32]
Pediatrics and Pediatric Neurology, American Center for Psychiatry and Neurology, Abu Dhabi 108699, UAE.
[33]
Department of Pediatric Neurology, the Children's Hospital and the University of Child Health Sciences, Lahore 54600, Pakistan.
[34]
Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.;Neurometabolic Unit, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
[35]
Division of Transcriptomics, Medical Institute of Bioregulation, Kyushu University, Fukuoka 8128582, Japan.
[36]
Department of Drug Discovery Medicine, Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan.;Institute of Resource Development and Analysis, Kumamoto University, Kumamoto 8600811, Japan.
[37]
Laboratory for Medical Science Mathematics, Department of Biological Sciences, School of Science, The University of Tokyo, Tokyo 113-0033, Japan.;Laboratory for Medical Science Mathematics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo 113-0033, Japan.;Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama 230-0045, Japan.
[38]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.;NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
[39]
医学主题词
青少年(Adolescent);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);婴儿(Infant);男(雄)性(Male);诱导多能干细胞(Induced Pluripotent Stem Cells);脂肪酶(Lipase);小头畸形(Microcephaly);神经胶质(Neuroglia);磷脂酶A2, 非钙依赖型(Phospholipases A2, Calcium-Independent)
DOI
10.1093/brain/awae185
PMID
39082157
发布时间
2025-01-04
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Brain
Brain
3949-3967页
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