-
1
المؤلفون: Hong-Lei Li, Yi Dong, Wang Ni, Shi-Rui Gan, Zhi-Jun Liu, Hong-Rong Cheng, Bin Gao, Xiao-Yan Li, Zhi-Ying Wu, Jean-Marc Burgunder
المصدر: European journal of neurologyReferences. 27(2)
مصطلحات موضوعية: Genotype, Disease, Polymorphism, Single Nucleotide, Haplogroup, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Asian People, Htt gene, Prevalence, Medicine, Humans, 030212 general & internal medicine, Alleles, Genetics, Chinese population, Genetic diversity, Huntingtin Protein, business.industry, Haplotype, medicine.disease, Huntington Disease, Neurology, Haplotypes, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6ea166329fc09549674da21d8a24dcTest
https://pubmed.ncbi.nlm.nih.gov/31444920Test -
2
المؤلفون: Fengyin Liang, Shichang Li, Jean-Marc Burgunder, Guangqing Xu, Qinmei Wang, Yixuan Zeng, Xi-Lin Lu, Wenyuan Guo, Zhong Pei, Jie-Bin Zhou, Ji-Yan Pang, Yi Huang, Simei Long, Luyang Feng
المصدر: Drug Design, Development and Therapy
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Mutant, Pharmaceutical Science, Protein aggregation, Neuroprotection, molecular target, Small Molecule Libraries, xyloketal derivatives, 03 medical and health sciences, Protein Aggregates, Huntington's disease, mutant Huntingtin, Drug Discovery, mental disorders, medicine, Huntingtin Protein, Animals, protein misfolding, Caenorhabditis elegans, Pyrans, Original Research, Pharmacology, Genetics, Drug Design, Development and Therapy, biology, Chorea, biology.organism_classification, medicine.disease, Cell biology, nervous system diseases, Molecular Docking Simulation, Disease Models, Animal, 030104 developmental biology, Huntington Disease, Neuroprotective Agents, medicine.symptom, Huntington’s disease
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8fcea67e2258c9d419944fe7fc01e0Test
https://pubmed.ncbi.nlm.nih.gov/27110099Test -
3
المؤلفون: Jean-Marc Burgunder, Walter Hunziker
المصدر: IUBMB Life (International Union of Biochemistry and Molecular Biology: Life). 55:347-352
مصطلحات موضوعية: Atlastin, Spastin, Hereditary spastic paraplegia, Proteolipids, Clinical Biochemistry, Kinesins, Cell Cycle Proteins, Degeneration (medical), Biochemistry, GTP Phosphohydrolases, GTP-Binding Proteins, Genetics, medicine, Humans, Spasticity, Molecular Biology, Adenosine Triphosphatases, Spastic Paraplegia, Hereditary, Gait Disturbance, business.industry, Calcium-Binding Proteins, Membrane Proteins, Proteins, Chaperonin 60, Cell Biology, medicine.disease, nervous system diseases, Membrane protein, Corticospinal tract, medicine.symptom, Hereditary Sensory and Motor Neuropathy, business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561f8e03c7635c57160d33384192a9e4Test
https://doi.org/10.1080/1521654032000114311Test -
4
المؤلفون: Huifang Shang, Jean-Marc Burgunder, Yongping Chen, Wei Song, R. Huang
المصدر: European Journal of Neurology. 19:924-926
مصطلحات موضوعية: Dystonia, Genetics, business.industry, Primary Dystonia, medicine.disease, Bioinformatics, Dyt1 gene, nervous system diseases, Exon, Neurology, Cohort, otorhinolaryngologic diseases, medicine, SNP, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e664f95871f55067b1cb082958415abTest
https://doi.org/10.1111/j.1468-1331.2011.03582.xTest -
5
المؤلفون: Jean-Marc Burgunder, How-Lung Eng, Wei Cheng, Jing Tian, Walter Hunziker
المصدر: PLoS ONE, Vol 9, Iss 8, p e103445 (2014)
PLoS ONEمصطلحات موضوعية: Movement disorders, Gene Expression, lcsh:Medicine, medicine.disease_cause, Biochemistry, Ion Channels, Animals, Genetically Modified, Gene Order, Medicine and Health Sciences, lcsh:Science, Zebrafish, Musculoskeletal System, Genetics, Mutation, Multidisciplinary, Movement Disorders, biology, Muscles, Fishes, Neurodegenerative Diseases, Animal Models, Phenotype, Cell biology, Biomechanical Phenomena, Neurology, Osteichthyes, Vertebrates, medicine.symptom, Anatomy, Locomotion, Research Article, musculoskeletal diseases, Myotonia Congenita, Recombinant Fusion Proteins, Genetic Vectors, Muscle disorder, Research and Analysis Methods, Muscle Fibers, Model Organisms, Chloride Channels, medicine, Animals, Humans, Actin, Swimming, CLCN1, Myotonia congenita, lcsh:R, Organisms, Biology and Life Sciences, Proteins, biology.organism_classification, medicine.disease, Actins, Disease Models, Animal, biology.protein, lcsh:Q
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9e0505057d2bc6319fc228eb055a6c7Test
http://europepmc.org/articles/PMC4118878?pdf=renderTest -
6
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 -
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: Franziska Joncourt, Paola Tonin, Gian Paolo Ramelli, Marcella Gasperini, Jean Marc Burgunder
المصدر: Swiss Medical Weekly.
مصطلحات موضوعية: Genetics, Complementation, Mild phenotype, business.industry, Null (mathematics), Medicine, General Medicine, Alpha-Sarcoglycan, Muscular dystrophy, business, medicine.disease, Gene, Null allele
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a13d09809a174abfd87728464c8ccdd6Test
https://doi.org/10.4414/smw.2006.11207Test -
9
المؤلفون: Jean-Marc Burgunder
المصدر: IUBMB life. 55(6)
مصطلحات موضوعية: Cysteine Endopeptidases, Proteasome Endopeptidase Complex, Multienzyme Complexes, Clinical Biochemistry, Nerve Degeneration, Genetics, Disease Progression, Humans, Neurodegenerative Diseases, Cell Biology, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57167d1fe378260aaf4e07f3653b4183Test
https://pubmed.ncbi.nlm.nih.gov/12938729Test