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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, 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 -
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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 -
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المؤلفون: Jean-Marc Burgunder, May Ling Joyce Chang, Dongliang Ma, Feng Ru Tang, Shwn Chin Chia, Alphonse Probst, Yong Cheng Tang
المصدر: Neurochemistry international. 49(7)
مصطلحات موضوعية: Male, Cerebellum, Spastin, Down-Regulation, Substantia nigra, Convulsants, Biology, Hippocampal formation, Muscarinic Agonists, Hippocampus, Cellular and Molecular Neuroscience, Mice, Status Epilepticus, Microscopy, Electron, Transmission, Species Specificity, medicine, Animals, Humans, Gliosis, RNA, Messenger, Adenosine Triphosphatases, Neurons, Epilepsy, Dentate gyrus, Pilocarpine, Brain, Cell Biology, Human brain, Disease Models, Animal, Dentate nucleus, medicine.anatomical_structure, nervous system, Epilepsy, Temporal Lobe, Cerebral cortex, Astrocytes, Dentate Gyrus, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e47f5a529ef080373db5ac0cd00c4870Test
https://pubmed.ncbi.nlm.nih.gov/16828199Test -
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المؤلفون: Lie Chen, Zen H. Lu, Lilianne Kappeler, Joachim Weis, Franziska Joncourt, Doris Lang, Martin T. Schaerer, Sabina Gallati, Jean-Marc Burgunder, Juerg Fritschi, Erwin Sigel
المصدر: Musclenerve. 29(5)
مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Myotonia Congenita, Physiology, DNA Mutational Analysis, Genes, Recessive, medicine.disease_cause, Cellular and Molecular Neuroscience, Exon, Xenopus laevis, Chloride Channels, Physiology (medical), medicine, Animals, Humans, Point Mutation, Aged, Genetics, Mutation, CLCN1, biology, Myotonia congenita, Point mutation, Single-strand conformation polymorphism, Exons, Myotonia, medicine.disease, Reverse transcription polymerase chain reaction, biology.protein, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::716323dcd8850de16e82e18f95f078cdTest
https://pubmed.ncbi.nlm.nih.gov/15116370Test -
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المصدر: Development genes and evolution. 213(8)
مصطلحات موضوعية: Spastin, Protein domain, Molecular Sequence Data, Sequence Homology, Locus (genetics), Biology, Gene product, Sequence Analysis, Protein, Genetics, medicine, Animals, Humans, Amino Acid Sequence, Gene, Conserved Sequence, Adenosine Triphosphatases, Neurodegeneration, Calcium-Binding Proteins, medicine.disease, biology.organism_classification, Transmembrane domain, Drosophila melanogaster, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64d9aaf80ea400cf5c94b8eb238a6373Test
https://pubmed.ncbi.nlm.nih.gov/12908108Test -
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المؤلفون: Vesna Radojevic, F. Gaschen, C. Oppliger, Jean-Marc Burgunder
المصدر: Neuropathology and applied neurobiology. 28(5)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Histology, Duchenne muscular dystrophy, Muscle Fibers, Skeletal, Hybrid Cells, Pathology and Forensic Medicine, Cell therapy, Dystrophin, Reference Values, Physiology (medical), Utrophin, medicine, Myocyte, Animals, Humans, Muscular dystrophy, Genetics, biology, Myogenesis, Skeletal muscle, Fibroblasts, Muscular Dystrophy, Animal, musculoskeletal system, medicine.disease, Coculture Techniques, Cell biology, Muscular Dystrophy, Duchenne, medicine.anatomical_structure, Neurology, biology.protein, Cats, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::568e4bb4cb51766b901c9f58255c19e1Test
https://pubmed.ncbi.nlm.nih.gov/12366821Test