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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 -
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المؤلفون: Michel Fardeau, Shari Fallet, Silvia Torelli, Norma B. Romero, C Pollitt, Gillian Storey, Caroline Sewry, Paola Prandini, Rumaisa Bashir, Thomas Voit, Derek J. Blake, Louise V.B. Anderson, Kate Bushby, Susan C. Brown, Volker Straub, Y Yuva, Isabelle Richard, Francesco Muntoni, Ralf Herrmann, Matthew A. Benson, Jean-Marc Burgunder, Martin Brockington
المصدر: Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851 <http://dx.doi.org/10.1093/hmg/10.25.2851Test>
مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Genetic Linkage, Blotting, Western, 610 Medicine & health, Polymerase Chain Reaction, Muscular Dystrophies, Muscle hypertrophy, Immunoenzyme Techniques, Fukuyama congenital muscular dystrophy, Genetics, medicine, Humans, Pentosyltransferases, Age of Onset, Muscular dystrophy, Child, Dystroglycans, Walker–Warburg syndrome, Molecular Biology, Genetics (clinical), DNA Primers, Membrane Glycoproteins, Fukutin-related protein, biology, Calpain, Infant, Proteins, General Medicine, Middle Aged, medicine.disease, Fukutin, Pedigree, Cytoskeletal Proteins, Phenotype, Haplotypes, Child, Preschool, Mutation, biology.protein, Congenital muscular dystrophy, Female, Laminin, Chromosomes, Human, Pair 19, Microsatellite Repeats, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8637abdd8a7da6e9a9ecb905ca82f74cTest
http://doc.rero.ch/record/297949/files/dde309.pdfTest -
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المؤلفون: Jean-Marc Burgunder
المصدر: Drug Discovery Today. 19:985-989
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Disease, Benign hereditary chorea, Huntington's disease, Chorea, mental disorders, Drug Discovery, Animals, Humans, Medicine, Genetic Testing, Pharmacology, Genetics, Dyskinesias, business.industry, Paroxysmal dyskinesia, medicine.disease, nervous system diseases, Huntington Disease, Mutation, Dynamic mutation, Spinocerebellar ataxia, medicine.symptom, business, PRRT2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714ba0f1a95ebbf61b0da6249e7e34deTest
https://doi.org/10.1016/j.drudis.2014.03.005Test -
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المؤلفون: Jean-Marc Burgunder, Josef Finsterer
المصدر: European Journal of Medical Genetics. 57:103-112
مصطلحات موضوعية: Genetics, SOD1, General Medicine, Disease, Biology, medicine.disease, Spinal muscular atrophies, Phenotype, TARDBP, DCTN1, C9orf72, Mutation, medicine, Humans, Genetic Predisposition to Disease, Motor Neuron Disease, Amyotrophic lateral sclerosis, Genetic Association Studies, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d2cc7b4100c6e162a8d2ef3ba24cc4Test
https://doi.org/10.1016/j.ejmg.2014.01.002Test -
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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 -
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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 -
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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 -
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المؤلفون: Zhenzhen Zheng, Yuan Yang, Yongping Chen, Rui Huang, Jean-Marc Burgunder, Huifang Shang, Xueping Chen, Qianqian Wei
المصدر: Parkinsonismrelated disorders. 20(8)
مصطلحات موضوعية: Adult, Male, Mutation rate, Spastin, Adolescent, Hereditary spastic paraplegia, DNA Mutational Analysis, medicine.disease_cause, Exon, Asian People, Medicine, Missense mutation, Humans, Multiplex ligation-dependent probe amplification, Age of Onset, Child, Genetics, Adenosine Triphosphatases, Mutation, Base Sequence, business.industry, Spastic Paraplegia, Hereditary, Point mutation, Infant, Middle Aged, medicine.disease, Pedigree, Neurology, Child, Preschool, Female, Neurology (clinical), Geriatrics and Gerontology, business, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d44ef432e76a485755e57e74374483bbTest
https://pubmed.ncbi.nlm.nih.gov/24824479Test -
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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 -
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المؤلفون: Jamilé Hazan, Alexis Brice, Jean Weissenbach, Nuria Fonknechten, François Artiguenave, Bertrand Fontaine, Delphine Mavel, Jean-Marc Burgunder, Roland Heilig, Jean-François Prud'homme, Corinne Cruaud, Valérie Barbe, Laurence Cattolico, Delphine Samson, Philippe Brottier, Patrick Wincker, Caroline Paternotte, Claire-Sophie Davoine, Alexandra Durr
المصدر: Nature Genetics. 23:296-303
مصطلحات موضوعية: Candidate gene, Spastin, Protein family, Positional cloning, Sequence analysis, Hereditary spastic paraplegia, Amino Acid Motifs, DNA Mutational Analysis, Molecular Sequence Data, Locus (genetics), Biology, Oxidative Phosphorylation, Mice, Genetics, medicine, Animals, Humans, Amino Acid Sequence, RNA, Messenger, Cloning, Molecular, Cells, Cultured, Adenosine Triphosphatases, Expressed Sequence Tags, Base Sequence, Sequence Homology, Amino Acid, Paraplegin, Spastic Paraplegia, Hereditary, Exons, medicine.disease, Introns, Mitochondria, Muscle, Mutation, Sequence Alignment
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79290d72b6271efc20e034052a4bec6eTest
https://doi.org/10.1038/15472Test