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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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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: 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 -
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المؤلفون: Huifang Shang, Dong Zhou, Qin Chen, Jean-Marc Burgunder, Xiao-Feng Jiang
المصدر: Movement disorders : official journal of the Movement Disorder Society. 21(12)
مصطلحات موضوعية: medicine.medical_specialty, DNA Mutational Analysis, Gene mutation, Diabetes Complications, Exon, Diabetes mellitus, Internal medicine, medicine, Serine, Humans, Aceruloplasminemia, Movement Disorders, biology, Cognitive disorder, Homozygote, Tryptophan, Ceruloplasmin, Exons, Middle Aged, medicine.disease, Phenotype, Magnetic Resonance Imaging, Endocrinology, Neurology, Mutation (genetic algorithm), Mutation, biology.protein, Female, Neurology (clinical), Psychology, Cognition Disorders
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3da30cccc0fa854513e1d71baf09b51Test
https://pubmed.ncbi.nlm.nih.gov/17013908Test -
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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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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 -
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المؤلفون: Jean-Marc Burgunder, Shuo Lin
المصدر: Brain research. Developmental brain research. 119(2)
مصطلحات موضوعية: musculoskeletal diseases, Gene isoform, Utrophin, animal diseases, Desmin, Dystrophin, Fetus, Sarcolemma, Developmental Neuroscience, Pregnancy, Sarcoglycans, medicine, Animals, Dystrophin glycoprotein complex, Rats, Wistar, Dystroglycans, Muscle, Skeletal, reproductive and urinary physiology, Membrane Glycoproteins, biology, Skeletal muscle, Membrane Proteins, Embryo, Anatomy, musculoskeletal system, Cell biology, Rats, Cytoskeletal Proteins, medicine.anatomical_structure, embryonic structures, biology.protein, Immunohistochemistry, Female, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0df5d306124fbe7831edb32a6205c99Test
https://pubmed.ncbi.nlm.nih.gov/10675780Test