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作者：
Ya-Chun,Chen [1]
;
Michaela,Auer-Grumbach [2]
;
Shinya,Matsukawa [3]
;
Manuela,Zitzelsberger [4]
;
Andreas C,Themistocleous [5]
;
Tim M,Strom [6]
;
Chrysanthi,Samara [7]
;
Adrian W,Moore [8]
;
Lily Ting-Yin,Cho [9]
;
Gareth T,Young [9]
;
Caecilia,Weiss [4]
;
Maria,Schabhüttl [2]
;
Rolf,Stucka [4]
;
Annina B,Schmid [10]
;
Yesim,Parman [11]
;
Luitgard,Graul-Neumann [12]
;
Wolfram,Heinritz [13]
;
Eberhard,Passarge [14]
;
Rosemarie M,Watson [15]
;
Jens Michael,Hertz [16]
;
Ute,Moog [17]
;
Manuela,Baumgartner [18]
;
Enza Maria,Valente [19]
;
Diego,Pereira [20]
;
Carlos M,Restrepo [21]
;
Istvan,Katona [22]
;
Marina,Dusl [4]
;
Claudia,Stendel [23]
;
Thomas,Wieland [24]
;
Fay,Stafford [1]
;
Frank,Reimann [25]
;
Katja,von Au [26]
;
Christian,Finke [27]
;
Patrick J,Willems [28]
;
Michael S,Nahorski [1]
;
Samiha S,Shaikh [1]
;
Ofélia P,Carvalho [1]
;
Adeline K,Nicholas [29]
;
Gulshan,Karbani [30]
;
Maeve A,McAleer [15]
;
Maria Roberta,Cilio [31]
;
John C,McHugh [32]
;
Sinead M,Murphy [33]
;
Alan D,Irvine [34]
;
Uffe Birk,Jensen [35]
;
Reinhard,Windhager [2]
;
Joachim,Weis [22]
;
Carsten,Bergmann [36]
;
Bernd,Rautenstrauss [37]
;
Jonathan,Baets [38]
;
Peter,De Jonghe [38]
;
Mary M,Reilly [39]
;
Regina,Kropatsch [40]
;
Ingo,Kurth [41]
;
Roman,Chrast [42]
;
Tatsuo,Michiue [3]
;
David L H,Bennett [43]
;
C Geoffrey,Woods [1]
;
Jan,Senderek [4]
作者单位：
1] Department of Medical Genetics, University of Cambridge, Cambridge, UK. [2] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
[1]
Department of Orthopaedics, Medical University Vienna, Vienna, Austria.
[2]
Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan.
[3]
Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany.
[4]
1] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [2] Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
[5]
1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. [2] Institute of Human Genetics, Technische Universität München, Munich, Germany.
[6]
Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
[7]
Disease Mechanism Research Core, RIKEN Brain Science Institute, Saitama, Japan.
[8]
Neusentis Research Unit, Pfizer, Cambridge, UK.
[9]
1] Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK. [2] School of Health and Rehabilitation Sciences, The University of Queensland, St. Lucia, Australia.
[10]
Department of Neurology, Istanbul University, Istanbul, Turkey.
[11]
Ambulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), Universitätsmedizin Berlin, Berlin, Germany.
[12]
1] Praxis für Humangenetik Cottbus, Cottbus, Germany. [2] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany.
[13]
1] Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany. [2] Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
[14]
Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland.
[15]
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
[16]
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[17]
Neuropädiatrische Ambulanz, Krankenhaus der Barmherzigen Schwestern Linz, Linz, Austria.
[18]
Neurogenetics Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
[19]
Departamento de Cirugía Plástica, Hospital Infantil Universitario de San José, Bogotá, Colombia.
[20]
Unidad de Genética, Universidad del Rosario, Bogotá, Colombia.
[21]
Institut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany.
[22]
1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany. [2] German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
[23]
Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
[24]
Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK.
[25]
SPZ Neuropädiatrie Charité, Universitätsmedizin Berlin, Berlin, Germany.
[26]
CharitéCentrum für Zahn-, Mund- und Kieferheilkunde, Arbeitsbereich Kinderzahnmedizin, Universitätsmedizin Berlin, Berlin, Germany.
[27]
GENDIA (GENetic DIAgnostic Network), Antwerp, Belgium.
[28]
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
[29]
Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.
[30]
1] Department of Neurology, University of California San Francisco, San Francisco, California, USA. [2] Department of Neuroscience, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
[31]
Department of Neurology and Neurophysiology, Our Lady's Children's Hospital, Dublin, Ireland.
[32]
1] Department of Neurology, Adelaide &Meath Hospital, Dublin, Ireland. [2] Academic Unit of Neurology, Trinity College, Dublin, Ireland.
[33]
1] Department of Dermatology, Our Lady's Children's Hospital, Dublin, Ireland. [2] Clinical Medicine, Trinity College, Dublin, Ireland.
[34]
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
[35]
1] Center for Human Genetics, Bioscientia, Ingelheim, Germany. [2] Department of Medicine, Renal Division, Freiburg University Medical Center, Freiburg, Germany. [3] Center for Clinical Research, Freiburg University Medical Center, Freiburg, Germany.
[36]
1] Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany. [2] Medizinisch Genetisches Zentrum, Munich, Germany.
[37]
1] Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium. [2] Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium. [3] Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.
[38]
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital for Neurology, London, UK.
[39]
Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany.
[40]
Institute of Human Genetics, Jena University Hospital, Jena, Germany.
[41]
1] Institute of Human Genetics, Technische Universität München, Munich, Germany. [2] Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden. [3] Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
[42]
Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
[43]
主题词
动物(Animals);COS细胞(COS Cells);载体蛋白质类(Carrier Proteins);近亲(Consanguinity);女(雌)性(Female);遗传关联研究(Genetic Association Studies);遗传性感觉和自主神经性神经病(Hereditary Sensory and Autonomic Neuropathies);人类(Humans);男(雄)性(Male);突变(Mutation);神经组织蛋白质类(Nerve Tissue Proteins);神经发生(Neurogenesis);疼痛感受器(Nociceptors);痛觉缺失, 先天性(Pain Insensitivity, Congenital);痛觉(Pain Perception);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);光滑爪蟾(Xenopus laevis)
DOI
10.1038/ng.3308
PMID
26005867
发布时间
2022-01-29
- 浏览22
Nature genetics
Nature genetics
803-8页
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