换一批
换一批RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
作者：
Mariagrazia,Talarico [1]
;
Julitta,de Bellescize [2]
;
Matthias,De Wachter [3]
;
Xavier,Le Guillou [4]
;
Guylène,Le Meur [5]
;
Matthieu,Egloff [4]
;
Bertrand,Isidor [6]
;
Benjamin,Cogné [6]
;
Diane,Beysen [3]
;
Paul,Rollier [7]
;
Melanie,Fradin [7]
;
Laurent,Pasquier [7]
;
Ilaria,Guella [8]
;
Scott E,Hickey [9]
;
Paul J,Benke [10]
;
Amelle,Shillington [11]
;
Candy,Kumps [12]
;
Olivier,Vanakker [12]
;
Erica H,Gerkes [13]
;
Shenela,Lakhani [14]
;
Irina,Romanova [15]
;
Ilya,Kanivets [16]
;
Melanie,Brugger [17]
;
Katharina,Vill [18]
;
Raymond C,Caylor [19]
;
Cindy,Skinner [19]
;
Rory J,Tinker [20]
;
Tommy,Stödberg [21]
;
Astrid,Nümann [22]
;
Tobias B,Haack [23]
;
Natalie,Deininger [23]
;
Holger,Hengel [24]
;
Jeanne,Jury [6]
;
Solène,Conrad [6]
;
Sandra,Mercier [6]
;
Grace,Yoon [25]
;
Melissa,Tsuboyama [26]
;
Giulia,Barcia [27]
;
Cyril,Gitiaux [27]
;
Marlène,Rio [27]
;
Andrea,Bevot [28]
;
Sylvia,Redon [29]
;
Kevin,Uguen [29]
;
Antje,Wonneberger [30]
;
Alexander,Schulz [31]
;
Dagmar,Timmann [32]
;
Danielle Hays,Karlowicz [33]
;
Nicolas,Chatron [34]
;
Amanda,Carnevale [25]
;
Sonal,Mahida [26]
;
Katrin,Õunap [35]
;
Sébastien,Kury [6]
;
Sara,Cabet [36]
;
Gaetan,Lesca [37]
作者单位：
Department of Medical and Surgical Sciences, University Magna Graecia of Catanzaro, Catanzaro, Italy; Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France.
[1]
Department of Clinical Epileptology, Sleep Disorders and Functional Neurology in Children, University Hospital of Lyon (HCL), Member of the ERN EpiCARE, Lyon, France.
[2]
Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, - Edegem, Belgium.
[3]
Poitiers University Hospital, Medical Genetics Department, F- 86000 Poitiers, France; Poitiers University, INSERM U1084, LNEC, F - 86000 Poitiers, France.
[4]
Nantes University, ophthalmology department Nantes University Hospital, Inserm, TARGET, F-44000 Nantes, France.
[5]
Medical Genetics Department, Nantes University, CHU Nantes, F-44000 Nantes, France; The Thorax Institute, INSERM, CNRS, Nantes University, CHU Nantes, F-44000 Nantes, France.
[6]
Clinical Genetics Department, "Intellectual Deficiencies of Rare Causes" Reference Center (CRDI), CLAD-Ouest Developmental Abnormalities Reference Center, CHU Rennes, 35203 Rennes, France.
[7]
Centre for Applied Neurogenetics, Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, BC, Canada.
[8]
Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.
[9]
Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
[10]
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
[11]
Center for Medical Genetics, Ghent University Hospital, Belgium.
[12]
Clinical Genetics, University Medical Center Groningen, Groningen, The Netherlands.
[13]
Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
[14]
Department of Medical Genetics, Kazan State University, Russia; GENOMED medical-genetic center, Moscow, Russia.
[15]
Department of Neurology, Svt. Luka's Institute of Child Neurology and Epilepsy, Moscow, Russia.
[16]
Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, German; Department of Obstetrics and Gynecology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany.
[17]
Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, German; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich, Germany.
[18]
Greenwood Genetic Center, Greenwood, South Carolina, USA.
[19]
Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
[20]
Pediatric Neurology, Karolinska University Hospital, Stockholm, Sweden.
[21]
Department of Neurology, Charity University Medicine Berlin, Berlin, Germany.
[22]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
[23]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; Center for Neurology and Hertie-Institute for Clinical Brain Research, Tübingen.
[24]
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
[25]
Boston Children's Hospital, department of neurology, Boston Children's Hospital, Boston, MA, USA.
[26]
Federation of Genetics, Molecular Genetics Department, Necker-Enfants Malades Hospital, Paris, France.
[27]
Neuropediatrics, University Children's Hospital Tübingen, Tübingen, Germany.
[28]
Medical Genetics Department, Brest University Hospital, Brest, France; Reference Center for Intellectual Disabilities, Pediatric Department, Brest University Hospital, Brest, France; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
[29]
Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
[30]
Institute of Human Genetics, Jena University Hospital, Jena, Germany.
[31]
Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Essen University Hospital, University of Duisburg-Essen, Essen 45147, Germany.
[32]
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
[33]
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France.
[34]
Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.
[35]
Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France; Pediatric imaging department, Femme-Mere-Enfant hospital, Lyon 1 University, Lyon, France.
[36]
Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address: gaetan.lesca@chu-lyon.fr.
[37]
DOI
10.1016/j.gim.2024.101347
PMID
39707840
发布时间
2024-12-21
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Genetics in medicine
101347页
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