换一批
第一作者：
Camille,Engel
第一单位：
Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr.
作者：
Camille,Engel [1]
;
Stéphanie,Valence [2]
;
Geoffroy,Delplancq [3]
;
Reza,Maroofian [4]
;
Andrea,Accogli [5]
;
Emanuele,Agolini [6]
;
Fowzan S,Alkuraya [7]
;
Valentina,Baglioni [8]
;
Irene,Bagnasco [9]
;
Mathilde,Becmeur-Lefebvre [10]
;
Enrico,Bertini [11]
;
Ingo,Borggraefe [12]
;
Elise,Brischoux-Boucher [3]
;
Ange-Line,Bruel [13]
;
Alfredo,Brusco [14]
;
Dalal K,Bubshait [15]
;
Christelle,Cabrol [3]
;
Maria Roberta,Cilio [16]
;
Marie-Coralie,Cornet [17]
;
Christine,Coubes [18]
;
Olivier,Danhaive [19]
;
Valérie,Delague [20]
;
Anne-Sophie,Denommé-Pichon [13]
;
Marilena Carmela,Di Giacomo [21]
;
Martine,Doco-Fenzy [22]
;
Hartmut,Engels [23]
;
Kirsten,Cremer [23]
;
Marion,Gérard [24]
;
Joseph G,Gleeson [25]
;
Delphine,Heron [26]
;
Joanna,Goffeney [27]
;
Anne,Guimier [28]
;
Frederike L,Harms [29]
;
Henry,Houlden [4]
;
Michele,Iacomino [30]
;
Rauan,Kaiyrzhanov [4]
;
Benjamin,Kamien [31]
;
Ehsan Ghayoor,Karimiani [32]
;
Dror,Kraus [33]
;
Paul,Kuentz [34]
;
Kerstin,Kutsche [29]
;
Damien,Lederer [35]
;
Lauren,Massingham [36]
;
Cyril,Mignot [37]
;
Déborah,Morris-Rosendahl [38]
;
Lakshmi,Nagarajan [39]
;
Sylvie,Odent [40]
;
Clothilde,Ormières [28]
;
Jennifer Neil,Partlow [41]
;
Laurent,Pasquier [40]
;
Lynette,Penney [42]
;
Christophe,Philippe [13]
;
Gianluca,Piccolo [43]
;
Cathryn,Poulton [31]
;
Audrey,Putoux [44]
;
Marlène,Rio [28]
;
Christelle,Rougeot [45]
;
Vincenzo,Salpietro [46]
;
Ingrid,Scheffer [47]
;
Amy,Schneider [48]
;
Siddharth,Srivastava [49]
;
Rachel,Straussberg [50]
;
Pasquale,Striano [51]
;
Enza Maria,Valente [52]
;
Perrine,Venot [53]
;
Laurent,Villard [54]
;
Antonio,Vitobello [13]
;
Johanna,Wagner [12]
;
Matias,Wagner [55]
;
Maha S,Zaki [56]
;
Federizo,Zara [51]
;
Gaetan,Lesca [57]
;
Vahid Reza,Yassaee [58]
;
Mohammad,Miryounesi [59]
;
Farzad,Hashemi-Gorji [58]
;
Mehran,Beiraghi [60]
;
Farah,Ashrafzadeh [60]
;
Hamid,Galehdari [61]
;
Christopher,Walsh [41]
;
Antonio,Novelli [6]
;
Moritz,Tacke [12]
;
Dinara,Sadykova [62]
;
Yerdan,Maidyrov [63]
;
Kairgali,Koneev [64]
;
Chingiz,Shashkin [65]
;
Valeria,Capra [30]
;
Mina,Zamani [61]
;
Lionel,Van Maldergem [3]
;
Lydie,Burglen [66]
;
Juliette,Piard [67]
作者单位：
Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France. cengel@chu-besancon.fr.
[1]
Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, APHP Sorbonne Université, Paris, France.
[2]
Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.
[3]
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.
[4]
Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, QC, Canada.
[5]
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[6]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[7]
Department of Human Neurosciences, Institute of Child and Adolescent Neuropsychiatry, Sapienza University of Rome, Rome, Italy.
[8]
Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, 10141, Turin, Italy.
[9]
Service de Génétique Clinique, CHR d'Orléans, Orléans, France.
[10]
Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
[11]
Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany.
[12]
UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.;Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
[13]
Department of Medical Sciences, University of Torino, 10126, Turin, Italy.
[14]
Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
[15]
Department of Pediatrics, Division of Pediatric Neurology Saint-Luc University Hospital, and Institute of Neuroscience (IoNS), Catholic University of Louvain, Brussels, Belgium.
[16]
Department of Pediatrics, Division of Neonatology, University of California San Francisco, San Francisco, CA, USA.
[17]
Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.
[18]
Division of Neonatology, Saint-Luc university Hospital, and Institut of Clinical and Experimental Research (IREC), Bruxelles, Belgium.
[19]
Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France.
[20]
Medical Genetics Service and Laboratory of Cytogenetics, SIC Anatomia Patologica, "San Carlo" Hospital, 85100, Potenza, Italy.
[21]
CHU Reims, Service de Génétique, Reims, France.;CHU de Nantes, service de génétique médicale, Nantes, France.;L'institut du thorax, INSERM, UNIV Nantes, Nantes, France.
[22]
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
[23]
Clinical Genetics, Côte de Nacre University Hospital Center, Caen, France.
[24]
University of California San Diego, Department of Neurosciences, Rady Children's Institute for Genomic Medicine, San Diego, CA, 92037, USA.
[25]
Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
[26]
Service de neuropédiatrie, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.
[27]
Service de Médecine Génomique des Maladies Rares, Hôpital Necker Enfants Malades, Institut Imagine et Université Paris-Cité, Paris, France.
[28]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[29]
Unit of Medical Genetics, IRCCS Instituto Giannina Gaslini, Genova, Italy.
[30]
Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, 6008, Australia.
[31]
Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.;Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
[32]
Department of Neurology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.;Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel.
[33]
UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.;Oncobiologie Génétique Bioinformatique, PCBio, CHU Besançon, Besançon, France.
[34]
Institute for Pathology and Genetics, 6040, Gosselies, Belgium.
[35]
Division of Medical Genetics, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, USA.
[36]
APHP, Sorbonne Université, Département de Génétique, Paris, France.;Centre de Référence Déficiences Intellectuelles de Causes Rares, GH Pitié-Salpêtrière/Hôpital Armand Trousseau, Paris, France.
[37]
Clinical Genetics and Genomics, Royal Brompton and Harefield NHS Foundation Trust, London, UK.;NHLI, Imperial College London, London, UK.
[38]
Department of Neurology, Perth Children's Hospital, Nedlands, WA, Australia.;University of Western Australia, Nedlands, WA, Australia.
[39]
Service de Génétique Clinique, Centre Référence "Déficiences Intellectuelles de causes rares" (CRDI), Centre Référence Anomalies du développement (CLAD-Ouest), CHU Rennes, Univ Rennes, Rennes, France.
[40]
Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
[41]
Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, NS, Canada.
[42]
UOSD Neuro-oncology, IRCCS Giannina Gaslini, Genova, Italy.
[43]
Hospices Civils de Lyon, Service de Génétique, Bron, France.;Équipe GENDEV, Centre de Recherche en Neurosciences de Lyon, INSERM U1028 CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.
[44]
Hôpital Femme Mère Enfant, Service de Neuropédiatrie, Bron, France.
[45]
Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.;IRCCS Giannina Gaslini Institute, Genova, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
[46]
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.;Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, VIC, Australia.
[47]
Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, VIC, Australia.
[48]
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
[49]
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 6997801, Israel.
[50]
IRCCS Giannina Gaslini Institute, Genova, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.
[51]
Department of Molecular Medicine, University of Pavia, Pavia, Italy.;Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
[52]
Neonatal Intensive Care Unit, Institut Alix de Champagne, Reims, France.
[53]
Aix Marseille Univ, INSERM, Marseille Medical Genetics Center, MMG, Marseille, France.;Département de Génétique Médicale, AP-HM, Hôpital d'Enfants de La Timone, Marseille, France.
[54]
Department of Pediatric Neurology, Developmental Medicine and Social Pediatrics, University of Munich, 80337, Munich, Germany.;Institute for Neurogenomics, Helmholtz Center Munich, Neuherberg, Germany.;Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany.
[55]
Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
[56]
Hospices Civils de Lyon, Service de Génétique, Bron, France.;Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France.
[57]
Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
[58]
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
[59]
Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
[60]
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
[61]
Astana Medical University, Nur-Sultan, Kazakhstan.
[62]
S. D. Asfendiyarov Kazakh National Medical University Almaty, Almaty, Kazakhstan.
[63]
Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, 050000, Kazakhstan.
[64]
Department of Neurology, The International Institute of Postraduate Education, Almaty, Kazakhstan.
[65]
Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, Paris, France.
[66]
Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France.;UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.
[67]
医学主题词
人类(Humans);核蛋白质类(Nuclear Proteins);癫痫(Epilepsy);表型(Phenotype);基因型(Genotype);遗传关联研究(Genetic Association Studies);神经变性疾病(Neurodegenerative Diseases);萎缩(Atrophy)
DOI
10.1038/s41431-023-01410-z
PMID
37344571
发布时间
2024-09-02
基金项目
K23 NS119666/NS/NINDS NIH HHS/United States
P50 HD105351/HD/NICHD NIH HHS/United States
- 浏览0
European journal of human genetics
European journal of human genetics
1023-1031页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
