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1دورية أكاديمية
المؤلفون: Iliana Michailidou, Aldo Jongejan, Jeroen P. Vreijling, Theodosia Georgakopoulou, Marit B. de Wissel, Ruud A. Wolterman, Patrick Ruizendaal, Ngaisah Klar-Mohamad, Anita E. Grootemaat, Daisy I. Picavet, Vinod Kumar, Cees van Kooten, Trent M. Woodruff, B. Paul Morgan, Nicole N. van der Wel, Valeria Ramaglia, Kees Fluiter, Frank Baas
المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-17 (2018)
مصطلحات موضوعية: Complement, Inflammasome, Neuroinflammation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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2
المؤلفون: Tanja Kulkens, Pieter A. Bolhuis, Ruud A. Wolterman, Stephan Kemp, Saskia te Nijenhuis, Linda J. Valentijn, Gerard W. Hensels, Frans G.I. Jennekens, Marianne de Visser, Jessica E. Hoogendijk, Frank Baas
المساهمون: Other departments
المصدر: Nature genetics, 5(1), 35-39. Nature Publishing Group
مصطلحات موضوعية: Male, Proteolipid protein 1, Molecular Sequence Data, Biology, medicine.disease_cause, Polymerase Chain Reaction, Serine, Exon, Myelin, Charcot-Marie-Tooth Disease, Genetics, medicine, Humans, Amino Acid Sequence, Codon, Gene, Sequence Deletion, Mutation, Base Sequence, Chromosome Mapping, Molecular biology, Charcot-Marie-Tooth Disease Type 1B, Pedigree, medicine.anatomical_structure, Genes, Chromosomes, Human, Pair 1, Chromosomal region, Female, Lod Score, Myelin P0 Protein, Myelin Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c4b4f00c46feb2f287169a2aa0cbb32
https://pure.amc.nl/en/publications/deletion-of-the-serine-34-codon-from-the-major-peripheral-myelin-protein-p0-gene-in-charcotmarietooth-disease-type-1b(6cf1fff1-7aef-4a06-9ec9-cbb112700254).html -
3Collagen synthesis in cultured myoblasts and myotubes from patients with Duchenne muscular dystrophy
المؤلفون: Sicco Hillarius, Piet A. Bolhuis, Ruud A. Wolterman, Luitzen de Jong
المصدر: Journal of the neurological sciences. 82(1-3)
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Duchenne muscular dystrophy, Biopsy, Connective tissue, Biology, Muscular Dystrophies, Hydroxylation, chemistry.chemical_compound, Internal medicine, medicine, Myocyte, Humans, Proline, Cells, Cultured, medicine.diagnostic_test, Myogenesis, Muscles, medicine.disease, nervous system diseases, medicine.anatomical_structure, Endocrinology, Neurology, chemistry, Cell culture, Neurology (clinical), Collagen