Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Han-Xiang DENG; Wenjie CHEN; HUJUN HUJUN JIANG; Makito HIRANO; Evadnie RAMPERSAUD; Gerard H JANSEN; Sandra DONKERVOORT; Eileen H BIGIO; Benjamin R BROOKS; Kaouther AJROUD; Robert L SUFIT; Jonathan L HAINES; Seong-Tshool HONG; Enrico MUGNAINI; Margaret A PERICAK-VANCE; Teepu SIDDIQUE; Kym M BOYCOTT; George H GORRIE; Nailah SIDDIQUE; Y I YI YANG; Faisal FECTO; YONG YONG SHI; HONG HONG ZHAI

doi:10.1038/nature10353

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Journal article

Open access

Peer reviewed

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Han-Xiang DENG, Wenjie CHEN, HUJUN HUJUN JIANG, Makito HIRANO, Evadnie RAMPERSAUD, Gerard H JANSEN, Sandra DONKERVOORT, Eileen H BIGIO, Benjamin R BROOKS, Kaouther AJROUD, …

Nature (London), Vol.477(7363), pp.211-215

2011

DOI: https://doi.org/10.1038/nature10353

PMCID: PMC3169705

PMID: 21857683

Abstract

Neurology

Biological and medical sciences

Medical sciences

Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.765 Amyotrophic Lateral Sclerosis
Web Of Science research areas: Multidisciplinary Sciences
ESI research areas: Neuroscience & Behavior

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Title: Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
Creators: Han-Xiang DENG - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Wenjie CHEN - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
HUJUN HUJUN JIANG - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Makito HIRANO - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Evadnie RAMPERSAUD - John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida 33136, United States
Gerard H JANSEN - Division of Anatomic Pathology, The Ottawa Hospital, Ottawa, Ontario K1Y 4E9, Canada
Sandra DONKERVOORT - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Eileen H BIGIO - Division of Neuropathology, Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Benjamin R BROOKS - Department of Neurology, Neuroscience and Spine Institute, Carolinas Medical Center, Charlotte, North Carolina 28207, United States
Kaouther AJROUD - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Robert L SUFIT - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Jonathan L HAINES - Center for Human Genetics Research, Vanderbilt University, Nashville, Tennessee 37232, United States
Seong-Tshool HONG - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Enrico MUGNAINI - Interdepartmental Neuroscience Program, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Margaret A PERICAK-VANCE - John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida 33136, United States
Teepu SIDDIQUE - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Kym M BOYCOTT - Department of Pediatrics, University of Ottawa and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada
George H GORRIE - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Nailah SIDDIQUE - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Y I YI YANG - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Faisal FECTO - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
YONG YONG SHI - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
HONG HONG ZHAI - Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Chicago, Illinois 60611, United States
Publication Details: Nature (London), Vol.477(7363), pp.211-215
Publisher: Nature Publishing Group; London
Academic Unit: Miller School of Medicine; John P. Hussman Institute for Human Genomics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 21857683
PMCID: PMC3169705
Record Identifier: 991031560567402976