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المؤلفون: Huajing You, Tengteng Wu, Gang Du, Yue Huang, Yixuan Zeng, Lishan Lin, Dingbang Chen, Chao Wu, Xunhua Li, Jean-marc Burgunder, Zhong Pei
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
You, Huajing; Wu, Tengteng; Du, Gang; Huang, Yue; Zeng, Yixuan; Lin, Lishan; Chen, Dingbang; Wu, Chao; Li, Xunhua; Burgunder, Jean-Marc; Pei, Zhong (2021). Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease. Frontiers in neurology, 12, p. 779890. Frontiers Media S.A. 10.3389/fneur.2021.779890 <http://dx.doi.org/10.3389/fneur.2021.779890Test>مصطلحات موضوعية: medicine.medical_specialty, Neurofilament light, 610 Medicine & health, Disease, Gastroenterology, Huntington's disease, Internal medicine, medicine, Clinical severity, RC346-429, Motor score, Original Research, Word reading, neurofilament light protein, Glial fibrillary acidic protein, biology, business.industry, medicine.disease, Neurology, nervous system, glial fibrillary acidic protein, clinical severity, biology.protein, Biomarker (medicine), biomarker, Neurology (clinical), Neurology. Diseases of the nervous system, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b4432e699acac04c598c74cc483beaTest
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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: 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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المصدر: Experimental Neurology. 193:234-237
مصطلحات موضوعية: Rats, Sprague-Dawley, Lesion, Parkinsonian Disorders, Developmental Neuroscience, Dopamine, Basal ganglia, medicine, Animals, skin and connective tissue diseases, biology, Motor Cortex, Rats, Subthalamic nucleus, Parvalbumins, medicine.anatomical_structure, Gene Expression Regulation, nervous system, Neurology, biology.protein, GABAergic, Female, sense organs, Primary motor cortex, medicine.symptom, Neuroscience, Parvalbumin, medicine.drug, Motor cortex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ae995ea176ca8003cfb7243c9c5a30Test
https://doi.org/10.1016/j.expneurol.2004.12.007Test -
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المؤلفون: A. Von Fellenberg, Jean-Marc Burgunder, S. Lin
المصدر: Neuropathology and Applied Neurobiology. 30:255-266
مصطلحات موضوعية: Denervation, Muscle Denervation, Pathology, medicine.medical_specialty, Histology, Sarcolemma, biology, Colocalization, Pathology and Forensic Medicine, Cell biology, Neurology, Physiology (medical), Gene expression, Myosin, biology.protein, medicine, Desmin, Neurology (clinical), Dystrophin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::99fb42758e434c8554582a0bef523a4eTest
https://doi.org/10.1046/j.0305-1846.2004.00529.xTest -
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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: Li-Yen Lee, Akhlaq A. Farooqui, Gavin S. Dawe, Wei-Yi Ong, Jean-Marc Burgunder
المصدر: Neuroscience Letters. 453:6-8
مصطلحات موضوعية: Male, Reflex, Startle, medicine.medical_specialty, Phospholipase A2 Inhibitors, Striatum, Phospholipase A2, Internal medicine, Moro reflex, medicine, Animals, Enzyme Inhibitors, Rats, Wistar, Prepulse inhibition, Analysis of Variance, Phospholipase A, biology, Chemistry, General Neuroscience, Oligonucleotides, Antisense, Startle reaction, Rats, Phospholipases A2, Endocrinology, Acoustic Stimulation, Quinacrine, Acoustic Startle Reflex, Phospholipases A2, Calcium-Independent, Reflex, biology.protein, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83756bcd4d5c25bafaaa498dab49c8Test
https://doi.org/10.1016/j.neulet.2009.01.069Test -
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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 -
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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: 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
