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Proline-rich transmembrane protein 2-negative paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 163 patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Increase of the plasma α-synuclein levels in patients with multiple system atrophy.
- Published in:
- Movement Disorders, 2014, v. 29, n. 3, p. 375, doi. 10.1002/mds.25688
- By:
- Publication type:
- Article
PRRT2 gene mutations in familial and sporadic paroxysmal kinesigenic dyskinesia cases.
- Published in:
- Movement Disorders, 2013, v. 28, n. 9, p. 1313, doi. 10.1002/mds.25370
- By:
- Publication type:
- Article
Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
- Published in:
- Movement Disorders, 2010, v. 25, n. 8, p. 1005, doi. 10.1002/mds.23009
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- Publication type:
- Article
Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: Genetic, clinical, and positron emission tomography findings.
- Published in:
- Movement Disorders, 2009, v. 24, n. 13, p. 2007, doi. 10.1002/mds.22727
- By:
- Publication type:
- Article
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
- Published in:
- Movement Disorders, 2008, v. 23, n. 14, p. 2074, doi. 10.1002/mds.22156
- By:
- Publication type:
- Article
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
- Published in:
- 2005
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- Publication type:
- journal article
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
- Published in:
- Human Genetics, 2005, v. 116, n. 3, p. 222, doi. 10.1007/s00439-004-1218-3
- By:
- Publication type:
- Article
Can brain impermeable BACE1 inhibitors serve as anti-CAA medicine?
- Published in:
- 2017
- By:
- Publication type:
- journal article
Gluten ataxia of sporadic and hereditary cerebellar ataxia in patients from mainland China.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Progress in treatment of Charcot?Marie?Tooth disease.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2017, v. 17, n. 8, p. 566, doi. 10.3969/j.issn.1672-6731.2017.08.003
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- Publication type:
- Article
Clinical standards and interpretation of gene sequence variants in human Mendelian disorders.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2017, v. 17, n. 7, p. 471, doi. 10.3969/j.issn.1672-6731.2017.07.001
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- Publication type:
- Article
Parkinson’s Disease and Cognitive Impairment.
- Published in:
- Parkinson's Disease (20420080), 2016, p. 1, doi. 10.1155/2016/6734678
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- Publication type:
- Article
Effect of GBA Mutations on Phenotype of Parkinson’s Disease: A Study on Chinese Population and a Meta-Analysis.
- Published in:
- Parkinson's Disease (20420080), 2015, v. 2015, p. 1, doi. 10.1155/2015/916971
- By:
- Publication type:
- Article
The Progress of Induced Pluripotent Stem Cells as Models of Parkinson’s Disease.
- Published in:
- Stem Cells International, 2016, p. 1, doi. 10.1155/2016/4126214
- By:
- Publication type:
- Article
UQCRC1 variants in Parkinson's disease: a large cohort study in Chinese mainland population.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Reply: Assessing the NOTCH2NLC GGC expansion in essential tremor patients from eastern China.
- Published in:
- 2021
- By:
- Publication type:
- letter
Reply: Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.
- Published in:
- 2020
- By:
- Publication type:
- letter
The Phenotypes and Mechanisms of NOTCH2NLC-Related GGC Repeat Expansion Disorders: a Comprehensive Review.
- Published in:
- Molecular Neurobiology, 2022, v. 59, n. 1, p. 523, doi. 10.1007/s12035-021-02616-2
- By:
- Publication type:
- Article
BAG5 Interacts with DJ-1 and Inhibits the Neuroprotective Effects of DJ-1 to Combat Mitochondrial Oxidative Damage.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/5094934
- By:
- Publication type:
- Article
Distribution of Transglutaminase 6 in the Central Nervous System of Adult Mice.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2013, v. 296, n. 10, p. 1576, doi. 10.1002/ar.22741
- By:
- Publication type:
- Article
Non-motor symptoms in Chinese Parkinson's disease patients with and without LRRK2 G2385R and R1628P variants.
- Published in:
- Journal of Neural Transmission, 2015, v. 122, n. 5, p. 661, doi. 10.1007/s00702-014-1281-4
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- Publication type:
- Article
Identification of a Locus for Disseminated Superficial Actinic Porokeratosis at Chromosome 12q23.2–24.1.
- Published in:
- Journal of Investigative Dermatology, 2000, v. 114, n. 6, p. 1071, doi. 10.1046/j.1523-1747.2000.00978.x
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- Publication type:
- Article
HCFC1 variants in the proteolysis domain are associated with X‐linked idiopathic partial epilepsy: Exploring the underlying mechanism.
- Published in:
- Clinical & Translational Medicine, 2023, v. 13, n. 6, p. 1, doi. 10.1002/ctm2.1289
- By:
- Publication type:
- Article
Identification of clinically actionable secondary genetic variants from whole‐genome sequencing in a large‐scale Chinese population.
- Published in:
- Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.866
- By:
- Publication type:
- Article
Simvastatin Induces Neuroprotection in 6- OHDA-Lesioned PC12 via the PI3K/ AKT/Caspase 3 Pathway and Anti-Inflammatory Responses.
- Published in:
- CNS Neuroscience & Therapeutics, 2013, v. 19, n. 3, p. 170, doi. 10.1111/cns.12053
- By:
- Publication type:
- Article
SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.
- Published in:
- 2016
- By:
- Publication type:
- Letter
The contribution of GIGYF2 to Parkinson's disease: a meta-analysis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 2, p. 305, doi. 10.1007/s10072-010-0413-3
- By:
- Publication type:
- Article
Clinical features and [11C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Clinical features and [C]-CFT PET analysis of PARK2, PARK6, PARK7-linked autosomal recessive early onset Parkinsonism.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 1, p. 35, doi. 10.1007/s10072-010-0360-z
- By:
- Publication type:
- Article
The Progress of Induced Pluripotent Stem Cells as Models of Parkinson’s Disease.
- Published in:
- Thrombosis, 2016, p. 1, doi. 10.1155/2016/4126214
- By:
- Publication type:
- Article
Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0106388
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- Publication type:
- Article
Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment.
- Published in:
- Nature Genetics, 1998, v. 20, n. 4, p. 370, doi. 10.1038/3845
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- Publication type:
- Article
Identification of the Largest SCA36 Pedigree in Asia: with Multimodel Neuroimaging Evaluation for the First Time.
- Published in:
- Cerebellum, 2022, v. 21, n. 3, p. 358, doi. 10.1007/s12311-021-01304-0
- By:
- Publication type:
- Article
Lithium Chloride Alleviates Neurodegeneration Partly by Inhibiting Activity of GSK3β in a SCA3 Drosophila Model.
- Published in:
- Cerebellum, 2013, v. 12, n. 6, p. 892, doi. 10.1007/s12311-013-0498-3
- By:
- Publication type:
- Article
RAB39B gene mutations are not linked to familial Parkinson's disease in China.
- Published in:
- Scientific Reports, 2016, p. 34502, doi. 10.1038/srep34502
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- Publication type:
- Article
Telomere Length and COVID-19 Outcomes: A Two-Sample Bidirectional Mendelian Randomization Study.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.805903
- By:
- Publication type:
- Article
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
- Published in:
- Frontiers in Aging Neuroscience, 2021, v. 13, p. 1, doi. 10.3389/fnagi.2021.749109
- By:
- Publication type:
- Article
Two novel functional single nucleotide polymorphisms of ADRB3 are associated with type 2 diabetes in the Chinese population.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Analysis of EIF4G1 in ethnic Chinese.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Association study between SNP rs150689919 in the DNA demethylation gene, TET1, and Parkinson's disease in Chinese Han population.
- Published in:
- 2013
- By:
- Publication type:
- journal article
TNFSF4 gene polymorphism rs3861950 but not rs3850641 is associated with the risk of cerebral infarction in a Chinese population.
- Published in:
- Journal of Thrombosis & Thrombolysis, 2013, v. 36, n. 3, p. 307, doi. 10.1007/s11239-012-0849-9
- By:
- Publication type:
- Article
Autonomic ganglionic injection of α-synuclein fibrils as a model of pure autonomic failure α-synucleinopathy.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-019-14189-9
- By:
- Publication type:
- Article
High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.
- Published in:
- NPJ Parkinson's Disease, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41531-024-00722-1
- By:
- Publication type:
- Article
Advances on the genetic mechanism of amyotrophic lateral sclerosis.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2023, v. 23, n. 3, p. 264, doi. 10.3969/j.issn.1672-6731.2023.03.017
- By:
- Publication type:
- Article
Brain bank in neurology history and development.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2020, v. 20, n. 10, p. 914, doi. 10.3969/j.issn.1672-6731.2020.10.012
- By:
- Publication type:
- Article
Influence of simvastatin on dopaminergic neurons of lipopolysaccharide–induced rat model of Parkinson's disease.
- Published in:
- Asian Pacific Journal of Tropical Medicine, 2015, v. 8, n. 1, p. 64, doi. 10.1016/S1995-7645(14)60189-9
- By:
- Publication type:
- Article
Research advances on neurite outgrowth inhibitor B receptor.
- Published in:
- Journal of Cellular & Molecular Medicine, 2020, v. 24, n. 14, p. 7697, doi. 10.1111/jcmm.15391
- By:
- Publication type:
- Article
Constructing Prediction Models for Freezing of Gait by Nomogram and Machine Learning: A Longitudinal Study.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.684044
- By:
- Publication type:
- Article