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1
المؤلفون: Yongping Chen, Ke Chen, Jean-Marc Burgunder, Qianqian Wei, Jing Yang, Bei Cao, Huifang Shang
المصدر: Neurological Research. 38:916-920
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Statistics as Topic, Disease, 030105 genetics & heredity, Irritability, Neuropsychiatry, Severity of Illness Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Huntington's disease, Rating scale, Internal medicine, Prevalence, medicine, Humans, Apathy, Psychiatry, Retrospective Studies, Psychiatric Status Rating Scales, Huntingtin Protein, Mood Disorders, General Medicine, Middle Aged, medicine.disease, Huntington Disease, Neurology, Anxiety, Female, Neurology (clinical), Age of onset, medicine.symptom, Cognition Disorders, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ff3cb438c946fb28c367f3d25035a4Test
https://doi.org/10.1080/01616412.2016.1214555Test -
2
المؤلفون: Jean-Marc Burgunder, Yongping Chen, Yi Jiang, Xueping Chen, Ke Chen, Bi Zhao, Rui Huang, Bei Cao, Huifang Shang, Wei Song
المصدر: Journal of the Neurological Sciences. 323:228-231
مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Adolescent, Genotype, Bioinformatics, Polymorphism, Single Nucleotide, Young Adult, Asian People, Gene Frequency, Risk Factors, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, Allele, Sensory trick, 3' Untranslated Regions, Allele frequency, Alleles, Dystonia, business.industry, Middle Aged, Focal dystonia, medicine.disease, Genotype frequency, Minor allele frequency, Neurology, Dystonic Disorders, Case-Control Studies, Female, Neurology (clinical), business, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ce1e23969abce4f74f615c4ba914e9Test
https://doi.org/10.1016/j.jns.2012.09.025Test -
3
المصدر: Parkinsonism & Related Disorders. 46:e33
مصطلحات موضوعية: Gerontology, Neurology, Huntington's disease, business.industry, Cross-sectional study, Medicine, Neurology (clinical), Geriatrics and Gerontology, business, China, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e5bc5c81b56e8edda02a58518a9f18d3Test
https://doi.org/10.1016/j.parkreldis.2017.11.107Test -
4
المؤلفون: Wei Song, Yongping Chen, Rui Huang, Bei Cao, Jean-Marc Burgunder, Huifang Shang, Ke Chen, Bi Zhao, Jing Yang
المصدر: Parkinsonism & Related Disorders. 19:1043-1045
مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Blepharospasm, Polymorphism, Single Nucleotide, Gastroenterology, Young Adult, Methionine, Polymorphism (computer science), Internal medicine, Genotype, medicine, Humans, SNP, Cervical dystonia, Genetic Association Studies, Torticollis, Genetic association, Dystonia, Genetics, business.industry, Brain-Derived Neurotrophic Factor, Valine, Middle Aged, medicine.disease, Minor allele frequency, Neurology, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a28b1d59197fca70bb86b85bb04e20eTest
https://doi.org/10.1016/j.parkreldis.2013.06.004Test -
5
المؤلفون: Huifang Shang, Zu-Ming Luo, Shu-Hui Wu, Shu-Shan Zhang, Yuan Yang, Qin Chen, Xueping Chen, Yang-Wei Zhang, Jean-Marc Burgunder
المصدر: Movement Disorders. 23:1472-1475
مصطلحات موضوعية: Male, Myoclonus, China, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, RNA Stability, Nonsense mutation, Gene mutation, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Frameshift mutation, Exon, SGCE, Sarcoglycans, medicine, Humans, RNA, Messenger, Child, Frameshift Mutation, Dystonia, Genetics, Exons, medicine.disease, Introns, Stop codon, Pedigree, Mutagenesis, Insertional, Phenotype, Neurology, Codon, Nonsense, Dystonic Disorders, Mutation (genetic algorithm), Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f29b383d1b454920c3367ff1697e3eTest
https://doi.org/10.1002/mds.22008Test -
6
المصدر: Parkinsonism & Related Disorders. 18:S107-S109
مصطلحات موضوعية: Involuntary movement, China, medicine.medical_specialty, Genotype, Chorea, Disease, Biology, medicine.disease, Phenotype, Huntington Disease, Neurology, Huntington's disease, Neuroacanthocytosis, medicine, Humans, Neurology (clinical), Geriatrics and Gerontology, Cognitive decline, medicine.symptom, Psychiatry, Neuroscience, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6e6ef11ef62385290478b4865588ceTest
https://doi.org/10.1016/s1353-8020Test(11)70034-7 -
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المؤلفون: Cong-Xia Lu, Qi-Lin Ma, Xiao-Rong Zhang, Jean-Marc Burgunder, Qing Lin, Xingkai An, Hongli Qu
المصدر: Neuroscience letters. 549
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Aura, Migraine Disorders, Gastroenterology, Polymorphism, Single Nucleotide, Asian People, Gene Frequency, Polymorphism (computer science), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Lymphotoxin-alpha, Monoamine Oxidase, Alleles, Genetic Association Studies, Methylenetetrahydrofolate Reductase (NADPH2), Genetics, biology, business.industry, General Neuroscience, Middle Aged, medicine.disease, Migraine with aura, Migraine, Methylenetetrahydrofolate reductase, Case-Control Studies, biology.protein, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::760e5c59d44a69308955935743312675Test
https://pubmed.ncbi.nlm.nih.gov/23811028Test -
8
المؤلفون: Yongping Chen, R. Huang, X. P. Chen, K. Chen, J. Yang, Jean-Marc Burgunder, B. Zhao, Wei Song, Huifang Shang, Z.-Z. Zheng
المصدر: European journal of neurology. 21(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Adolescent, Aura, DNA Mutational Analysis, Nerve Tissue Proteins, medicine.disease_cause, Gastroenterology, Exon, Young Adult, Chorea, Internal medicine, medicine, Humans, In patient, Insertion, Age of Onset, Child, Gene, Genetics, Mutation, business.industry, Membrane Proteins, Paroxysmal dyskinesia, musculoskeletal system, Dystonia, Neurology, cardiovascular system, Female, Neurology (clinical), business, PRRT2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13f88ff53a02f70117dcfeae1035222Test
https://pubmed.ncbi.nlm.nih.gov/23496026Test -
9
المؤلفون: Huifang Shang, Zhenzhen Zheng, Jean-Marc Burgunder, Xiaoyan Guo
المصدر: PLoS Currents
Zheng, Zhenzhen; Burgunder, Jean-Marc; Shang, Huifang; Guo, Xiaoyan (2012). Huntington's like conditions in China, A review of published Chinese cases. PLoS currents, 4, RRN1302. Lawrence, Kans.: Public Library of Scienceمصطلحات موضوعية: Involuntary movement, Pediatrics, medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, Medicine (miscellaneous), Knowledge infrastructure, Disease, Huntington Disease, Medicine, Observational study, Family history, business, China, Medical literature, Genetic testing
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5059f80a2e52b8a74a7171fc3c061301Test
https://pubmed.ncbi.nlm.nih.gov/22453898Test -
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المؤلفون: Jin-Hong Zhang, Xue-Ye Mao, Nan-Nan Li, Jean-Marc Burgunder, Huihua Li, Rong Peng, Eng-King Tan, Xue-Li Chang
المصدر: Journal of the neurological sciences. 302(1-2)
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, China, Genotype, Ubiquitin-Protein Ligases, Population, Polymorphism, Single Nucleotide, Parkin, Polymorphism (computer science), Internal medicine, medicine, SNP, Humans, Risk factor, Allele, education, Promoter Regions, Genetic, Aged, Genetics, education.field_of_study, Polymorphism, Genetic, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Parkinson Disease, Middle Aged, Genotype frequency, Neurology, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e0b0e06e13e2ea10ff38636be9cfecTest
https://pubmed.ncbi.nlm.nih.gov/21176923Test
