换一批
换一批
作者：
Pablo,Iruzubieta [1]
;
César Augusto Pinheiro Ferreira,Alves [2]
;
Aisha M,Al Shamsi [3]
;
Gehad,ElGhazali [4]
;
Maha S,Zaki [5]
;
Lorenzo,Pinelli [6]
;
Diego,Lopergolo [7]
;
Bernard P H,Cho [8]
;
Amy A,Jolly [8]
;
Amna,Al Futaisi [9]
;
Fatema,Al-Amrani [9]
;
Jessica,Galli [10]
;
Elisa,Fazzi [10]
;
Katarina,Vulin [11]
;
Francisco,Barajas-Olmos [12]
;
Holger,Hengel [13]
;
Bayan Mohammed,Aljamal [14]
;
Vahideh,Nasr [15]
;
Farhad,Assarzadegan [16]
;
Michele,Ragno [17]
;
Luigi,Trojano [18]
;
Naomi Meave,Ojeda [19]
;
Arman,Çakar [20]
;
Silvia,Bianchi [7]
;
Francesca,Pescini [21]
;
Anna,Poggesi [21]
;
Amal,Al Tenalji [22]
;
Majid,Aziz [23]
;
Rahema,Mohammad [24]
;
Aziza,Chedrawi [25]
;
Nicola,De Stefano [7]
;
Giovanni,Zifarelli [26]
;
Ludger,Schöls [13]
;
Tobias B,Haack [27]
;
Adriana,Rebelo [28]
;
Stephan,Zuchner [28]
;
Filiz,Koc [29]
;
Lyn R,Griffiths [30]
;
Lorena,Orozco [12]
;
Karla García,Helmes [31]
;
Meisam,Babaei [32]
;
Peter,Bauer [26]
;
Won,Chan Jeong [33]
;
Ehsan Ghayoor,Karimiani [34]
;
Miriam,Schmidts [35]
;
Joseph G,Gleeson [19]
;
Wendy K,Chung [36]
;
Fowzan Sami,Alkuraya [14]
;
Bita,Shalbafan [37]
;
Hugh S,Markus [8]
;
Henry,Houlden [24]
;
Reza,Maroofian [38]
作者单位：
Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom; Department of Neurology, Donostia University Hospital, Biogipuzkoa Health Research Institute, Donostia-San Sebastián, Spain; CIBERNED, Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas-Instituto de Salud Carlos III (CIBER-CIBERNED-ISCIII), 28029, Madrid, Spain.
[1]
Neuroradiology Division, Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.
[2]
Genetic Division, Paediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.
[3]
Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates; College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.
[4]
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, El-Tahrir Street, Dokki, Cairo, Egypt.
[5]
Neuroradiology Unit, Pediatric Neuroradiology Section, ASST SpedaliCivili, Brescia, Italy.
[6]
Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy; UOC Neurologia e Malattie Neurometaboliche, Azienda Ospedaliero-Universitaria Senese, Siena, Italy.
[7]
Department of Clinical Neurosciences, University of Cambridge, United Kingdom.
[8]
Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Oman.
[9]
Child Neurology and Psychiatry Unit, ASST SpedaliCivili of Brescia, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
[10]
Department of Medical and Laboratory Genetics, ERN-Ithaca Zagreb Center, Children's Hospital Zagreb, Zagreb, Croatia; Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia.
[11]
Immunogenomics and Metabolic Diseases Laboratory, Instituto Nacional de Medicina Genómica, SS, CDMX, Mexico.
[12]
Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076, Tübingen, Germany.
[13]
Department of Translational Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.
[14]
Department of Neurology - Kermanshah Imam Reza (AS) Hospital Complex, Kermanshah University of Medical Sciences, Kermanshah, Iran.
[15]
Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences(SBUMS), Tehran, Iran.
[16]
Pianeta Salute, Viale Assisi, 88, 63084, Villa Pigna, Ascoli Piceno, Italy.
[17]
Department of Psychology, University of Campania 'Luigi Vanvitelli', Viale Ellittico 31, 81100, Caserta, Italy.
[18]
Rady Children's Institute for Genomic Medicine, University of California, San Diego, La Jolla, USA.
[19]
Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093, Istanbul, Turkey.
[20]
Department of Emergency, Stroke Unit, Careggi University Hospital, Florence, Italy; Department of NEUROFARBA, University of Florence, Florence, Italy.
[21]
Sheikh Khalifa Medical City, Purelab, Purehealth, Abu Dhabi, United Arab Emirates.
[22]
Sheikh Khalifa Medical City, Department of Pediatric Neurology, Abu Dhabi, United Arab Emirates.
[23]
Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom.
[24]
Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[25]
CENTOGENE GmbH, Am Strande 7, 18055, Rostock, Germany.
[26]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[27]
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
[28]
Department of Neurology, Faculty of Medicine, Cukurova University, Adana, Turkey.
[29]
Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, 60 Musk Ave, Kelvin Grove, QLD, 4059, Australia.
[30]
Department of Genetics, General Hospital - Dr. Aurelio Valdivieso, Oaxaca de Juárez, Oaxaca, Mexico.
[31]
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.
[32]
3billion, Seoul, South Korea.
[33]
Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom.
[34]
Pediatrics Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Mathildenstrasse 1, 79106, Freiburg, Germany; CIBSS-Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany.
[35]
Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, USA.
[36]
Cellular and Molecular Endocrine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
[37]
Department of Neurogenetics, UCL Institute of Neurology London Queen Square and National Hospital for Neurology and Neurosurgery, University College London, London, United Kingdom. Electronic address: r.maroofian@ucl.ac.uk.
[38]
主题词
人类(Humans);女(雌)性(Female);男(雄)性(Male);等位基因(Alleles);成年人(Adult);中年人(Middle Aged);遗传关联研究(Genetic Association Studies);磁共振成像(Magnetic Resonance Imaging);CADASIL(CADASIL);表型(Phenotype);老年人(Aged);突变, 误义(Mutation, Missense);疾病遗传易感性(Genetic Predisposition to Disease);青年人(Young Adult);脑(Brain);青少年(Adolescent)
DOI
10.1016/j.ebiom.2024.105297
PMID
39191170
发布时间
2024-09-23
- 浏览0
EBioMedicine
2024年107卷
105297页
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