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1
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 -
2
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 -
3
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 -
4
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 -
5
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 -
6
المؤلفون: Xue-Li Chang, Jean-Marc Burgunder, Nan-Nan Li, Huihua Li, Eng-King Tan, Rong Peng, Xue-Ye Mao, Jin-Hong Zhang
المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (3)
مصطلحات موضوعية: Adult, Male, China, Adolescent, Genome-wide association study, Single-nucleotide polymorphism, Locus (genetics), Biology, Lower risk, Polymorphism, Single Nucleotide, Cellular and Molecular Neuroscience, Gene Frequency, SNP, Humans, Genetic Predisposition to Disease, Allele, Genetics (clinical), Genetic association, Aged, Genetics, Aged, 80 and over, Parkinson Disease, Middle Aged, LRRK2, Psychiatry and Mental health, Genetic Loci, Case-Control Studies, Female, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4cabfd878480d686ce9c3e900fe100dTest
https://pubmed.ncbi.nlm.nih.gov/21268244Test -
7
المؤلفون: G.-G. Yuan, R. Peng, Jean-Marc Burgunder, Y.-M. Xu, Y.-C. Wang, W.-J. Chen, T. Li, Z.-J. Zhang, Y. Wu, X.-K. An, Y.-R. Gou, J.-H. Zhang
المصدر: European journal of neurology. 15(3)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Population, Glycine, Protein Serine-Threonine Kinases, Arginine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Gastroenterology, Asian People, Polymorphism (computer science), Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Risk factor, education, Aged, Genetics, Aged, 80 and over, education.field_of_study, Chi-Square Distribution, Polymorphism, Genetic, business.industry, Parkinsonism, Parkinson Disease, Odds ratio, Middle Aged, medicine.disease, LRRK2, Genotype frequency, Neurology, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4975f753c8b6c3bf2bffa1865817f56Test
https://pubmed.ncbi.nlm.nih.gov/18290841Test -
8
المؤلفون: Benjamin K.C. Ong, Raymond C.S. Seet, Roland Baur, Chew Soh Eng, Shang Huifang, Erle C.H. Lim, Walter Hunziker, Pascal Béguin, Erwin Sigel, Jean-Marc Burgunder
المصدر: Neuromuscular disorders : NMD. 18(8)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, China, DNA, Complementary, Adolescent, Xenopus, Pain, Biology, Compound heterozygosity, medicine.disease_cause, Myotonia, Variable features, Chloride Channels, Internal medicine, medicine, Animals, Humans, Muscle, Skeletal, Exercise, Genetics (clinical), Genetics, Neurologic Examination, CLCN1, Mutation, Myotonia congenita, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, biology.organism_classification, Electrophysiology, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Chloride channel, biology.protein, Oocytes, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c2fdf4dfca35d7248e8e99f8ec0c33Test
https://pubmed.ncbi.nlm.nih.gov/18579381Test -
9
المؤلفون: Xiaoyan Guo, Yongping Chen, Jean-Marc Burgunder, Wei Song, Xueping Chen, Bei Cao, Rui Huang, JianPeng Li, Bi Zhao, Huifang Shang, Ke Chen
المصدر: Neurobiology of Aging. 34:1709.e7-1709.e8
مصطلحات موضوعية: Adult, Male, China, Aging, EIF4G1 Gene, Population, Vesicular Transport Proteins, Biology, Arginine, Young Adult, VPS35, Humans, VPS35 Gene, Histidine, education, Gene, Aged, Genetics, Vacuolar protein sorting, Aspartic Acid, education.field_of_study, General Neuroscience, Parkinson Disease, Middle Aged, Eukaryotic translation initiation factor 4 gamma, Case-Control Studies, Mutation, Mutation (genetic algorithm), Female, Neurology (clinical), Asparagine, Geriatrics and Gerontology, Eukaryotic Initiation Factor-4G, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236fa32da8eb03d3548d6d3eb9775613Test
https://doi.org/10.1016/j.neurobiolaging.2012.11.003Test