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Author Details

Dong-Hui Chen
University of Washington School of Medicine
1988
35
19
PMIDPaper TitleJournal TitlePublished Year
34753215Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia.Neuropathology2022
36166510Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition.Sci Signal2022
33893476Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression.Arch Clin Neuropsychol2022
32211513Heterozygous <i>STUB1</i> missense variants cause ataxia, cognitive decline, and STUB1 mislocalization.Neurol Genet2020
32600828Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants.Neuromuscul Disord2020
31970214Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia.Mov Disord Clin Pract2019
29236290An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.Muscle Nerve2018
30276537Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder.Hum Genet2018
27933653ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity.Mov Disord2017
28240725Assessment of mutations in KCNN2 and ZNF135 to patient neurological symptoms.Neuroreport2017
29127950Retracted: siRNA Mediated Silencing of NIN1/RPN12 Binding Protein 1 Homolog Inhibits Proliferation and Growth of Breast Cancer CellsAsian Pac J Cancer Prev2017
26686870ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.Mov Disord2016
27713167Simultaneous high expression of PLD1 and Sp1 predicts a poor prognosis for pancreatic ductal adenocarcinoma patients.Oncotarget2016
27259050Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.Am J Hum Genet2016
24599720Effect of obesity on the association between common variations in the PPAR gene and C-reactive protein level in Chinese Han population.Endocrine2015
26537056ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.Neurology2015
27066566Novel mutations highlight the key role of the ankyrin repeat domain in TRPV4-mediated neuropathy.Neurol Genet2015
25580854Immunomodulatory lysophosphatidylserines are regulated by ABHD16A and ABHD12 interplay.Nat Chem Biol2015
24700542Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.Ann Neurol2014
23595882Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).Hum Mol Genet2013
24027063Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.Hum Mutat2013
21827914Spinocerebellar ataxia type 14.Handb Clin Neurol2012
22901129siRNA mediated silencing of NIN1/RPN12 binding protein 1 homolog inhibits proliferation and growth of breast cancer cells.Asian Pac J Cancer Prev2012
20633900A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.J Neurol Sci2010
21115951CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.Neurology2010
17290615[Release profile of compound liposomes entrapped with vincristine sulfate and mitoxantrone chlorhydric acid in vitro and their distribution in mice].Yao Xue Xue Bao2006
15824259Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.Arch Neurol2005
15824357The clinical and genetic spectrum of spinocerebellar ataxia 14.Neurology2005
15706876[Effect of Spatholobus suberectus on the bone marrow cells and related cytokines of mice].Zhongguo Zhong Yao Za Zhi2004
12644968Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.Am J Hum Genet2003
14676051Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.Arch Neurol2003
11959162Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.J Neurol Sci2002
12160723Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.Genomics2002
1468845Cigarette smoking among junior high school students in Beijing, China, 1988.Int J Epidemiol1992
3194374A retrospective study on traumatic spinal cord injury in Beijing (1982-1986).Proc Chin Acad Med Sci Peking Union Med Coll1988
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Collaborators

Thomas D Bird
University of Washington School of Medicine
Co-authored papers 23
Wendy H Raskind
University of Washington School of Medicine
Co-authored papers 22
Mark Matsushita
University of Washington
Co-authored papers 7
Emily S Bonkowski
University of Washington School of Public Health.
Co-authored papers 5
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Co-authored papers 4
Caitlin S Latimer
University of Washington
Co-authored papers 3
Michael O Dorschner
University of Washington
Co-authored papers 3
Christopher Dirk Keene
University of Washington
Co-authored papers 3
Evan E Eichler
University of Washington
Co-authored papers 2
Olena Korvatska
University of Washington
Co-authored papers 2
Elizabeth E Blue
University of Washington
Co-authored papers 2
Phillip D Swanson
University of Washington School of Medicine
Co-authored papers 2
Suman Jayadev
University of Washington
Co-authored papers 2
Ali Torkamani
Scripps Science Institute
Co-authored papers 2
Benjamin F Cravatt
Scripps Research Institute
Co-authored papers 2
Fuki M Hisama
University of Washington
Co-authored papers 2
Patrick J Cimino
Co-authored papers 2
Deborah A Nickerson
University of Washington
Co-authored papers 2
Daniel R Storm
University of Washington
Co-authored papers 2
Susan S Taylor
University of California
Co-authored papers 1
Samuel Levy
Bluestar Genomics Inc.
Co-authored papers 1
James B Leverenz
Lou Ruvo Center for Brain Health, Cleveland Clinic
Co-authored papers 1
Eric J Topol
Universidade Federal de Sao Paulo
Co-authored papers 1
Siob??n B Keel
University of Washington School of Medicine
Co-authored papers 1
David J Gonzalez
Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California
Co-authored papers 1
Cinnamon Bloss
University of California
Co-authored papers 1
Jacob Raber
Oregon Health & Science University
Co-authored papers 1
Ashley A Scott-Van Zeeland
1] The Scripps Translational Science Institute
Co-authored papers 1
Qi Chen
East China University of Science and Technology
Co-authored papers 1
Zoran Brkanac
University of Washington
Co-authored papers 1
Release 1.2