换一批The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
第一作者：
Sarah M,Brooker
第一单位：
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
作者：
Sarah M,Brooker [1]
;
Maria,Novelli [2]
;
Robert,Coukos [1]
;
Neha,Prakash [3]
;
Walaa A,Kamel [4]
;
Marta,Amengual-Gual [5]
;
Mathieu,Anheim [6]
;
Giulia,Barcia [7]
;
Tanya,Bardakjian [8]
;
Franciska,Baur [9]
;
Steffen,Berweck [10]
;
Bigna K,Bölsterli [11]
;
Melanie,Brugger [12]
;
Thomas,Cassini [13]
;
Nicolas,Chatron [14]
;
Brian,Corner [13]
;
Hormos Salimi,Dafsari [9]
;
Jean-Madeleine,de Sainte Agathe [15]
;
Colin A,Ellis [8]
;
Kimberly M,Ezell [13]
;
Cendrine,Foucard [16]
;
Steven J,Frucht [17]
;
Maria C,Garcia [18]
;
Deepak,Gill [19]
;
Anne,Guimier [7]
;
Rizwan,Hamid [13]
;
Damià,Heine-Suñer [20]
;
Peter,Herkenrath [21]
;
Marie,Hully [22]
;
Ioannis U,Isaias [23]
;
Louis,Januel [24]
;
Chloe,Laurencin [25]
;
Taylor,Laut [26]
;
Alinoe,Lavillaureix [27]
;
Gaetan,Lesca [14]
;
Marion,Lesieur-Sebellin [7]
;
Luca,Magistrelli [28]
;
Cecilia,Marelli [29]
;
Heather C,Mefford [30]
;
Bryce A,Mendelsohn [31]
;
Saadet,Mercimek-Andrews [26]
;
Claire,Miller [17]
;
Shekeeb S,Mohammad [32]
;
Francesca,Morgante [33]
;
Sirisha,Nandipati [34]
;
Thomas,Opladen [35]
;
Mahesh,Padmanaban [36]
;
Micaela,Pauni [37]
;
Gianni,Pezzoli [38]
;
Amelie,Piton [39]
;
Francis,Ramond [40]
;
Giulietta M,Riboldi [17]
;
Christelle,Rougeot-Jung [41]
;
Fernando,Santos-Simarro [20]
;
Ingrid E,Scheffer [42]
;
Naoual,Serari [16]
;
Christine M,Stahl [17]
;
Ann Stembridge,Kung [31]
;
Susana,Tarongí Sanchez [43]
;
Christel,Thauvin-Robinet [44]
;
Marianne,Till [14]
;
Christine,Tranchant [6]
;
Christopher,Troedson [19]
;
Thomas F,Tropea [45]
;
Olivier,Vanakker [46]
;
Patricia,Vega [37]
;
Maxi Leona,Wiese [9]
;
Udo,Wieshmann [47]
;
Laura J,Williams [48]
;
Thomas,Wirth [6]
;
Michael,Zech [49]
;
Hans,Zempel [50]
;
Emmanuel,Roze [16]
;
Vincenzo,Leuzzi [2]
;
Serena,Galosi [2]
;
Victor S C,Fung [48]
;
Gemma,Carvill [1]
;
Dimitri,Krainc [1]
;
Elizabeth,Gerard [1]
;
Niccolò E,Mencacci [1]
作者单位：
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.
[1]
Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
[2]
Department of Neurology, University of Connecticut School of Medicine, Farmington, CT.
[3]
Department of Neurology, Beni Suef University, Beni Suef, Egypt.
[4]
Department of Pediatrics, Pediatric Neurology, Hospital Universitario Son Espases, Palma, Spain.
[5]
Department of Neurology, The University Hospitals of Strasbourg, Strasbourg, France.;University of Strasbourg, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Strasbourg, France.;University of Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Strasbourg, France.
[6]
Universite Paris Cite, Department of Genomic Medicine of Rare Disorders, Necker Hospital, Paris, France.
[7]
Department of Neurology, University of Pennsylvania, Philadelphia, PA.
[8]
Department of Pediatrics, University of Cologne, Köln, Germany.;Max-PlancInstitute for Biology of Ageing, Köln, Germany.
[9]
Schon Klinik Vogtareuth, Specialist Centre for Paediatric Neurology, Neurorehabilitation, and Epileptology, Vogtareuth, Germany.
[10]
Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland.;University Children's Hospital Zurich, Children's Research Center, Zurich, Switzerland.
[11]
Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.;Department of Obstetrics and Gynecology, Technical University of Munich Klinikum Rechts der Isar, München, Germany.
[12]
Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN.
[13]
Department of Genetics, University Hospital Centre Lyon, Lyon, France.
[14]
Department of Medical Genetics, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.
[15]
Department of Neurology, Assistance Publique - Hopitaux de Paris-Sorbonne Universite, Paris, France.
[16]
Department of Neurology, NYU Grossman School of Medicine, New York, NY.
[17]
Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.;The University of Sydney, Sydney Medical School, Sydney, New South Wales, Australia.
[18]
TY Nelson Department of Neurology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
[19]
Molecular Diagnostic and Clinical Genetics Department, Hospital Universitario Son Espases, Palma, Spain.
[20]
Department of Pediatrics, University of Cologne, Köln, Germany.
[21]
Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
[22]
Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.;Department of Neurology, University Hospital Wurzburg, Wurzburg, Germany.
[23]
Department of Genetics, University Hospital Centre Lyon, Lyon, France.;Auragen laboratory, Plan France Medecine Génomique, Lyon, France.
[24]
Department of Neurology, Hospices Civils de Lyon, Lyon, France.
[25]
Department of Medical Genetics, University of Alberta, Faculty of Medicine and Dentistry, Edmonton, Alberta, Canada.
[26]
CHU de Rennes, Service de Génétique Médicale, Rennes, France.
[27]
Gaetano Pini-CTO, Parkinson Institute, Milan, Italy.
[28]
Montpellier University, Expert Center for Neurogenetic Diseases, Montpellier, France.
[29]
Department of Cell and Molecular Biology St. Jude Children's Research Hospital, Center for Pediatric Neurological Disease Research, Memphis, TN.
[30]
Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA.
[31]
The University of Sydney, Faculty of Medicine and Health, Sydney, New South Wales, Australia.
[32]
City St. George's University of London, Neuroscience and Cell Biology Institute, London, UK.
[33]
Department of Neurology, Kaiser Permanente San Rafael Medical Center, San Rafael, CA.
[34]
Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Heidelberg, Germany.
[35]
Department of Neurology, The University of Chicago, Chicago, IL.
[36]
Department of Pediatrics, Neuropediatric Division, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
[37]
Fondazione Grigioni per Il Morbo di Parkinson, Milan, Italy.
[38]
Department of Translational Medicine and Neurogenetics, University of Strasbourg, Institute of Genetics and Molecular and Cellular Biology (IGBMC), Illkirch, France.
[39]
Auragen laboratory, Plan France Medecine Génomique, Lyon, France.;Department of Medical Genetics, Saint Etienne University Hospital, Saint-Etienne, France.
[40]
Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France.
[41]
University of Melbourne, Austin Health and Royal Children's Hospital and Florey Neuroscience Institutes, Melbourne, Victoria, Australia.
[42]
Department of Neurology, Hospital Universitario Son Espases, Palma, Spain.
[43]
CHU Dijon, Centre de Genetique, Dijon, Spain.
[44]
Department of Neurology, University of Pennsylvania, Philadelphia, PA.;Institute for Neurodegenerative Disorders, New Haven, CT.
[45]
Ghent University Hospital, Center for Medical Genetics, Ghent, Belgium.
[46]
Kingston and Richmond NHS Foundation Trust, Kingston upon Thames, UK.
[47]
Department of Neurology, Movement Disorders Unit, Westmead Hospital, Westmead, New South Wales, Australia.
[48]
Technical University of Munich School of Medicine and Health, Institute of Human Genetics, München, Germany.;Helmholtz Zentrum München, Institute of Neurogenomics, Munich, Germany.;Technical University of Munich, Institute for Advanced Study Garching, Munich, Germany.
[49]
University Hospital Cologne, Institute for Human Genetics, Koln, Nordrhein-Westfalen, Germany.
[50]
医学主题词
人类(Humans);男(雄)性(Male);女(雌)性(Female);表型(Phenotype);儿童(Child);儿童, 学龄前(Child, Preschool);青少年(Adolescent);成年人(Adult);动作障碍(Movement Disorders);癫痫(Epilepsy);青年人(Young Adult);回顾性研究(Retrospective Studies);婴儿(Infant);发育障碍(Developmental Disabilities);中年人(Middle Aged)
DOI
10.1002/ana.27272
PMID
40590478
发布时间
2026-04-25
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Annals of neurology
Annals of neurology
561-572页
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