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换一批
作者：
Serena,Galosi [1]
;
Ban H,Edani [2]
;
Simone,Martinelli [3]
;
Hana,Hansikova [4]
;
Erik A,Eklund [5]
;
Caterina,Caputi [6]
;
Laura,Masuelli [1]
;
Nicole,Corsten-Janssen [7]
;
Myriam,Srour [8]
;
Renske,Oegema [9]
;
Daniëlle G M,Bosch [10]
;
Colin A,Ellis [11]
;
Louise,Amlie-Wolf [11]
;
Andrea,Accogli [12]
;
Isis,Atallah [13]
;
Luisa,Averdunk [9]
;
Kristin W,Barañano [10]
;
Roberto,Bei [14]
;
Irene,Bagnasco [15]
;
Alfredo,Brusco [16]
;
Scott,Demarest [17]
;
Anne-Sophie,Alaix [18]
;
Carlo,Di Bonaventura [19]
;
Felix,Distelmaier [20]
;
Frances,Elmslie [21]
;
Ziv,Gan-Or [22]
;
Jean-Marc,Good [1]
;
Karen,Gripp [15]
;
Erik-Jan,Kamsteeg [23]
;
Ellen,Macnamara [10]
;
Carlo,Marcelis [24]
;
Noëlle,Mercier [25]
;
Joseph,Peeden [14]
;
Simone,Pizzi [13]
;
Luca,Pannone [26]
;
Marwan,Shinawi [27]
;
Camilo,Toro [28]
;
Nienke E,Verbeek [29]
;
Sunita,Venkateswaran [30]
;
Patricia G,Wheeler [31]
;
Lucie,Zdrazilova [31]
;
Rong,Zhang [32]
;
Giovanna,Zorzi [27]
;
Renzo,Guerrini [11]
;
William C,Sessa [33]
;
Dirk J,Lefeber [34]
;
Marco,Tartaglia [5]
;
Fadi F,Hamdan [2]
;
Kariona A,Grabińska [3]
;
Vincenzo,Leuzzi [35]
作者单位：
Department of Human Neuroscience, Sapienza University, Rome 00185, Italy.
[1]
Vascular Biology and Therapeutics Program, Yale University School of Medicine, New Haven, CT 06520, USA.
[2]
Department of Pharmacology, Yale University School of Medicine, New Haven, CT 06520, USA.
[3]
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy.
[4]
Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague 12808, Czech Republic.
[5]
Section for Pediatrics, Department of Clinical Sciences, Lund University, Lund 22184, Sweden.
[6]
Department of Experimental Medicine, Sapienza University, Rome 00161, Italy.
[7]
Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen 9700, The Netherlands.
[8]
Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada.
[9]
Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada.
[10]
Department of Genetics, University Medical Center Utrecht, Utrecht 3584 CX, The Netherlands.
[11]
Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.
[12]
Division of Medical Genetics, Nemours/A I duPont Hospital for Children, Wilmington, DE 19803, USA.
[13]
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne 1011, Switzerland.
[14]
Department of General Pediatrics, Neonatology and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf 40225, Germany.
[15]
Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD 21287, USA.
[16]
Department of Clinical Sciences and Translational Medicine, University of Rome 'Tor Vergata', Rome 00133, Italy.
[17]
Division of Neuropsychiatry, Epilepsy Center for Children, Martini Hospital, Turin 10128, Italy.
[18]
Department of Medical Sciences, University of Torino & Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin 10126, Italy.
[19]
Children's Hospital Colorado, Aurora, CO 80045, USA.
[20]
Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
[21]
Hopital Universitaire Necker Enfants Malades APHP, Paris 75015, France.
[22]
South West Thames Regional Genetics Service, St. George's Healthcare NHS Trust, London SW17 0QT, UK.
[23]
Montréal Neurological Institute and Hospital, McGill University, Montreal, QC H3A 2B4, Canada.
[24]
Department of Human Genetics, McGill University, Montréal, QC H3A 0C7, Canada.
[25]
Department of Human Genetics, Radboud University Medical Centre, Nijmegen 6525, The Netherlands.
[26]
Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892-2152, USA.
[27]
Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen 6525, The Netherlands.
[28]
Service d'Epileptologie et Médecine du handicap, Hôpital Neurologique, Institution de Lavigny, Lavigny 1175, Switzerland.
[29]
East Tennessee Children's Hospital, University of Tennessee Department of Medicine, Knoxville, TN 37916, USA.
[30]
Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy.
[31]
Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
[32]
Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa ON K1H 8L1, Canada.
[33]
Arnold Palmer Hospital for Children, Orlando, FL 32806, USA.
[34]
Department of Pediatric Neurology, IRCCS Foundation Carlo Besta Neurological Institute, Milan 20133, Italy.
[35]
AOU Meyer, Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Florence 50139, Italy.
[36]
Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen 6525 AJ, The Netherlands.
[37]
Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC H3T1C5, Canada.
[38]
主题词
烷基和芳基转移酶类(Alkyl and Aryl Transferases);儿童(Child);人类(Humans);肌阵挛(Myoclonus);神经变性疾病(Neurodegenerative Diseases);色素性视网膜炎(Retinitis Pigmentosa)
DOI
10.1093/brain/awab299
PMID
34382076
发布时间
2023-03-17
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Brain
Brain
208-223页
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