Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
- Author
- DENG, Han-Xiang1 ; CHEN, Wenjie1 ; HUJUN JIANG1 ; HIRANO, Makito1 ; RAMPERSAUD, Evadnie4 ; JANSEN, Gerard H5 ; DONKERVOORT, Sandra1 ; BIGIO, Eileen H6 ; BROOKS, Benjamin R7 ; AJROUD, Kaouther1 ; SUFIT, Robert L1 ; HAINES, Jonathan L8 ; HONG, Seong-Tshool1 ; MUGNAINI, Enrico3 9 ; PERICAK-VANCE, Margaret A4 ; SIDDIQUE, Teepu1 3 9 ; BOYCOTT, Kym M2 ; GORRIE, George H1 ; SIDDIQUE, Nailah1 ; YI YANG1 ; FECTO, Faisal1 3 ; YONG SHI1 ; HONG ZHAI1
[1] Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
[2] Department of Pediatrics, University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada
[3] Interdepartmental Neuroscience Program, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
[4] John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida 33136, United States
[5] Division of Anatomic Pathology, The Ottawa Hospital, Ottawa, Ontario K1Y 4E9, Canada
[6] Division of Neuropathology, Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
[7] Department of Neurology, Neuroscience and Spine Institute, Carolinas Medical Center, Charlotte, North Carolina 28207, United States
[8] Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee 37232, United States
[9] Department of Cell and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States - Source
Nature (London). 2011, Vol 477, Num 7363, pp 211-215, 5 p ; ref : 30 ref
- CODEN
- NATUAS
- ISSN
- 0028-0836
- Scientific domain
- Multidisciplinary
- Publisher
- Nature Publishing Group, London
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Keyword (fr)
- Démence Déterminisme génétique Mutation Sclérose latérale amyotrophique Maladie dégénérative Pathologie de la moelle épinière Pathologie du système nerveux central Pathologie du système nerveux
- Keyword (en)
- Dementia Genetic determinism Mutation Amyotrophic lateral sclerosis Degenerative disease Spinal cord disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Demencia Determinismo genético Mutación Esclerosis lateral amiotrófica Enfermedad degenerativa Médula espinal patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 24480864
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/nature10353 
https://dx.doi.org/10.1038/nature10353
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