المؤلفون: Nuria Muelas, Zohar Argov, Juan J. Vílchez, Sini Penttilä, Volker Straub, Carsten Bonneman, Patricia G. Wheeler, Kathryn R. Wagner, Phillipa J. Lamont, Rebecca Gooding, Kym M. Boycott, Gerald F. Cox, Alan H. Beggs, Jahannaz Dastgir, Alexandru Barboi, Anne M. Connolly, David Hilton-Jones, E. Schmedding, Johanna Palmio, Elizabeth T. DeChene, NP Davies, Heinz Jungbluth, Tiina Suominen, Bjarne Udd, Kate Bushby, Peter Van den Bergh, William Wallefeld, Nigel G. Laing, Elizabeth Wraige, Christopher Staples

المساهمون: Neuroprotection & Neuromodulation

المصدر: Human mutation. 35(7)

مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Child, preschool, Biopsy, DNA Mutational Analysis, Cardiomyopathy, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Myosin, Genetics, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Myosin Heavy Chains, Infant, Newborn, Skeletal muscle, Infant, Middle Aged, medicine.disease, Immunohistochemistry, 3. Good health, Distal Myopathies, medicine.anatomical_structure, Phenotype, young adult, MYH7, Female, medicine.symptom, mutation, Cardiac Myosins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d5f95eec553d1cc27eafb63d53104cTest
http://ora.ox.ac.uk/objects/uuid:95321b62-c413-45d4-81cd-c9728f1b6a5fTest

المؤلفون: Caroline Sewry, Peter Van den Bergh, Francesco Muntoni, Corrado Angelini, Salla Ranta, Vilma Lotta Lehtokari, Kati Donner, Kate Bushby, Katarina Pelin, Susan T. Iannaccone, Nigel G. Laing, Carina Wallgren-Pettersson, Maria Sandbacka

المصدر: Human mutation. 27(9)

مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Muscle Proteins, Genes, Recessive, Biology, Compound heterozygosity, Myopathies, Nemaline, 03 medical and health sciences, Exon, Nebulin, 0302 clinical medicine, Tropomyosin binding, Nemaline myopathy, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Genetics (clinical), Chromatography, High Pressure Liquid, 030304 developmental biology, 0303 health sciences, Point mutation, Exons, medicine.disease, Molecular biology, Exon skipping, Introns, 3. Good health, Codon, Nonsense, biology.protein, Female, RNA Splice Sites, 030217 neurology & neurosurgery, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a256f7181c370426ab73d084036ea4Test
https://pubmed.ncbi.nlm.nih.gov/16917880Test