换一批
换一批Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
作者：
Annette,Lischka [1]
;
Katja,Eggermann [1]
;
Christopher J,Record [2]
;
Maike F,Dohrn [3]
;
Petra,Laššuthová [4]
;
Florian,Kraft [1]
;
Matthias,Begemann [1]
;
Daniela,Dey [1]
;
Thomas,Eggermann [1]
;
Danique,Beijer [5]
;
Jana,Šoukalová [6]
;
Matilde,Laura [2]
;
Alexander M,Rossor [2]
;
Radim,Mazanec [7]
;
Jonas,Van Lent [8]
;
Pedro J,Tomaselli [9]
;
Martin,Ungelenk [10]
;
Karlien Y,Debus [11]
;
Shawna M E,Feely [12]
;
Dieter,Gläser [13]
;
Sujatha,Jagadeesh [14]
;
Madelena,Martin [15]
;
Geeta M,Govindaraj [16]
;
Pratibha,Singhi [17]
;
Revanth,Baineni [18]
;
Niranjan,Biswal [18]
;
Marisol,Ibarra-Ramírez [19]
;
Maryse,Bonduelle [20]
;
Burkhard,Gess [21]
;
Juan,Romero Sánchez [22]
;
Renu,Suthar [23]
;
Vrajesh,Udani [24]
;
Atchayaram,Nalini [25]
;
Gopikrishnan,Unnikrishnan [25]
;
Wilson,Marques [9]
;
Sandra,Mercier [26]
;
Vincent,Procaccio [27]
;
Céline,Bris [27]
;
Beena,Suresh [14]
;
Vaishnavi,Reddy [14]
;
Mariola,Skorupinska [2]
;
Nathalie,Bonello-Palot [28]
;
Fanny,Mochel [29]
;
Georg,Dahl [30]
;
Karthika,Sasidharan [16]
;
Fiji M,Devassikutty [16]
;
Sheela,Nampoothiri [31]
;
Maria J,Rodovalho Doriqui [32]
;
Wolfgang,Müller-Felber [33]
;
Katharina,Vill [34]
;
Tobias B,Haack [35]
;
Andreas,Dufke [35]
;
Michael,Abele [36]
;
Rolf,Stucka [37]
;
Saima,Siddiqi [38]
;
Noor,Ullah [39]
;
Stephanie,Spranger [40]
;
Deborah,Chiabrando [41]
;
Behiye S,Bolgül [42]
;
Yesim,Parman [43]
;
Pavel,Seeman [4]
;
Angelika,Lampert [44]
;
Jörg B,Schulz [45]
;
John N,Wood [46]
;
James J,Cox [46]
;
Michaela,Auer-Grumbach [47]
;
Vincent,Timmerman [8]
;
Jonathan,de Winter [48]
;
Andreas C,Themistocleous [49]
;
Michael,Shy [50]
;
David L,Bennett [49]
;
Jonathan,Baets [48]
;
Christian A,Hübner [10]
;
Enrico,Leipold [51]
;
Stephan,Züchner [5]
;
Miriam,Elbracht [1]
;
Arman,Çakar [43]
;
Jan,Senderek [37]
;
Thorsten,Hornemann [52]
;
C Geoffrey,Woods [53]
;
Mary M,Reilly [2]
;
Ingo,Kurth [1]
作者单位：
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University Hospital, 52074 Aachen, Germany.
[1]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
[2]
Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.;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 33136, USA.
[3]
Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Praha, Czechia.
[4]
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 33136, USA.
[5]
Department of Medical Genetics, University Hospital Brno, 625 00 Brno, Czechia.
[6]
Department of Neurology, Faculty of Medicine, Charles University in Prague and Motol University Hospital, 150 06 Prague, Czechia.
[7]
Peripheral Neuropathy Research Group, Department of Biomedical Sciences, Institute Born Bunge, University of Antwerp, 2160 Antwerp, Belgium.
[8]
Department of Neurosciences and Behaviour Sciences, Clinical Hospital of Ribeirão Preto, University of São Paulo, Ribeirão Preto, 14015-130, Brazil.
[9]
Institute of Human Genetics, University Hospital Jena, 07747 Jena, Germany.
[10]
Center for Molecular Biomedicine Institute for Biophysics, Friedrich-Schiller Universität Jena, 07745 Jena, Germany.
[11]
Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.;Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA 98105, USA.
[12]
Center for Human Genetics, Genetikum®, 89231 Neu-Ulm, Germany.
[13]
Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai 600032, Tamilnadu, India.
[14]
Davis and Davis Children's Hospital, University of California, Sacramento, CA 95817, USA.
[15]
Department of Pediatrics, Government Medical College, Kozhikode, Kerala 673 008, India.
[16]
Pediatric Neurology and Neurodevelopment, Medanta, The Medicity, Gurgaon, Haryana 122 001, India.
[17]
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry 605 006, India.
[18]
Genetics Department, Hospital Universitario Dr. José Eleuterio González Universidad Autónoma de Nuevo León, 64460 Monterrey, Nuevo León, México.
[19]
Centre for Medical Genetics, Universitair Ziekenhuis Brussel, 1090 Jette, Brussels, Belgium.
[20]
Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.;Department of Neurology, University Hospital, Evangelisches Klinikum Bethel, University of Bielefeld, 33617 Bielefeld, Germany.
[21]
Pediatría, Clínica Premium, 29601 Marbella, Spain.
[22]
Pediatric Neurology and Neurodevelopment Unit, Department of Pediatrics, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh 160 012, India.
[23]
Department of Child Neurology, PD Hinduja Hospital and Medical Research Centre, Mumbai, Maharashtra 400 016, India.
[24]
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru 560 029, India.
[25]
CHU Nantes, Service de Génétique Médicale, Centre de Référence des Maladies Neuromusculaires AOC, 44000 Nantes, France.
[26]
Department of Biochemistry and Genetics, MitoVasc Institute, UMR CNRS 6015- INSERM U1083, CHU Angers, 49055 Angers, France.
[27]
INSERM, MMG, U 1251, Marseille, France, Aix Marseille Univ, 13385 Marseille, France.
[28]
Genetics Department, Sorbonne Université, Paris Brain Institute, APHP, INSERM, CNRS, 75013 Paris, France.
[29]
Pediatric Neurology, Children's Hospital of the King's Daughters in Norfolk, Norfolk, VA 23507, USA.
[30]
Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala 682 041, India.
[31]
Department of Genetics, Hospital Infantil Doutor Juvêncio Mattos, São Luis, Maranhão 65015-460, Brazil.
[32]
Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, LMU Campus Innenstadt, University of Munich, 80337 Munich, Germany.
[33]
Department of Pediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, 80337 Munich, Germany.;Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
[34]
Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.
[35]
Neurologie, Praxis für Neurologie und Schlafmedizin, 53359 Rheinbach, Germany.
[36]
Friedrich Baur Institute at the Department of Neurology, LMU University Hospital, LMU Munich, 80336 Munich, Germany.
[37]
Genomics Group, Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.
[38]
Institute for Paramedical Sciences, Khyber Medical University, Peshawar, KPK 25100, Pakistan.
[39]
MVZ Humangenetik Bremen, Limbach Genetics, 28209 Bremen, Germany.
[40]
Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Center 'Guido Tarone', University of Torino, 10124 Turin, Italy.
[41]
Department of Pedodontics, Faculty of Dentistry, Dicle University, 21200 Diyarbakir, Turkey.
[42]
Neuromuscular Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.
[43]
Institute of Neurophysiology, Medical Faculty, Uniklinik RWTH Aachen University, 52074 Aachen, Germany.
[44]
Department of Neurology, Medical Faculty of the RWTH Aachen University, 52074 Aachen, Germany.;JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Research Centre Jülich GmbH, and RWTH Aachen University, 52056 Aachen, Germany.
[45]
Molecular Nociception Group, Wolfson Institute for Biomedical Research, University College London, London WC1E 6BT, UK.
[46]
Department of Orthopedics and Trauma Surgery, Medical University of Vienna, 1090 Vienna, Austria.
[47]
Translational Neurosciences and Institute Born Bunge, Faculty of Medicine and Health Sciences, University of Antwerp, 2610 Antwerp, Belgium.;Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2610 Antwerp, Belgium.
[48]
Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford OX3 9DU, UK.
[49]
Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.
[50]
Department of Anesthesiology and Intensive Care and CBBM-Center of Brain, Behavior and Metabolism, University of Luebeck, 23562 Luebeck, Germany.
[51]
Department of Clinical Chemistry, University Hospital Zurich, University of Zurich, 8006 Zurich, Switzerland.
[52]
Cambridge Institute for Medical Research, Keith Peters Building, Cambridge Biomedical Campus, Cambridge CB2 0XY, UK.
[53]
主题词
突变(Mutation);离子通道病(Channelopathies);痛觉缺失, 先天性(Pain Insensitivity, Congenital);人类(Humans);遗传性感觉和自主神经性神经病(Hereditary Sensory and Autonomic Neuropathies)
DOI
10.1093/brain/awad328
PMID
37769650
发布时间
2024-12-11
- 浏览0
Brain
Brain
4880-4890页
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