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المؤلفون: Davide Pareyson, Jean marc Burgunder, Michelangelo Mancuso, Josef Finsterer, Thomas Klopstock
المصدر: Mitochondrion 42, 1-10 (2018). doi:10.1016/j.mito.2017.10.003
مصطلحات موضوعية: Retinal Ganglion Cells, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Visual acuity, genetic structures, Mitochondrial disease, Respiratory chain, Vision Disorders, Biology, pathology [Retinal Ganglion Cells], Retinal ganglion, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Humans, 610 Medicine & health, Molecular Biology, medicine.diagnostic_test, pathology [Ophthalmoplegia, Chronic Progressive External], Disease Management, Optic Nerve, Cell Biology, Anatomy, medicine.disease, therapy [Ophthalmoplegia, Chronic Progressive External], eye diseases, etiology [Vision Disorders], diagnosis [Ophthalmoplegia, Chronic Progressive External], ddc:540, Mutation, 030221 ophthalmology & optometry, Optic nerve, Molecular Medicine, medicine.symptom, pathology [Optic Nerve], 030217 neurology & neurosurgery, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935fa022a917be06aa7c8275559bbcdTest
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المؤلفون: Lie Chen, Jean-Marc Burgunder
المصدر: Cell Biology International. 29:506-513
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Utrophin, Sarcoplasm, Cell Culture Techniques, Fluorescent Antibody Technique, Dystrophin, Dystrophin-associated protein complex, Dystroglycan, medicine, Humans, Protein Isoforms, Dystroglycans, Muscle, Skeletal, Sarcolemma, biology, Skeletal muscle, Cell Differentiation, Cell Biology, General Medicine, musculoskeletal system, Clone Cells, medicine.anatomical_structure, Biochemistry, biology.protein, Pikachurin, Laminin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5115e085c6a4c0d704f143e45f9e9837Test
https://doi.org/10.1016/j.cellbi.2005.01.009Test -
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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: 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: Kai M. Rösler, Séverine Petitprez, Lie Chen, Liliane Kappeler, D Schorderet, Hugues Abriel, Jean-Marc Burgunder, L Tiab
المصدر: Neurology. 71(21)
مصطلحات موضوعية: medicine.medical_specialty, Nav1.4, DNA Mutational Analysis, Transfection, Sodium Channels, Cell Line, Membrane Potentials, Myotonia, Internal medicine, medicine, Humans, Hyperkalemic periodic paralysis, Patch clamp, Isoleucine, NAV1.4 Voltage-Gated Sodium Channel, Membrane potential, Family Health, biology, Sodium channel, Valine, medicine.disease, Cell biology, Transmembrane domain, Protein Subunits, Endocrinology, Paramyotonia congenita, Mutation, biology.protein, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677b1aeb0f489949f8a9ef705e45ab19Test
https://pubmed.ncbi.nlm.nih.gov/19015483Test -
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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: 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 -
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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