-
1
المؤلفون: Sandra T. Cooper, David A. Stevenson, Kate G. R. Quinlan, Ute Roessner, Aaron Schindeler, Thusitha T.W. Rupasinghe, David G. Little, Emily R Vasiljevski, Kathy Mikulec, Matthew A. Summers, Lauren Peacock, Frances J. Evesson
المصدر: Human Molecular Genetics. 27:577-588
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Mice, Transgenic, Mass Spectrometry, Mice, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Muscular Diseases, Carnitine, Internal medicine, Genetics, medicine, Animals, Humans, Child, Myopathy, Molecular Biology, Genetics (clinical), Mice, Knockout, Muscle Weakness, Neurofibromin 1, biology, Cholesterol, Fatty Acids, Muscle weakness, Skeletal muscle, Lipid metabolism, General Medicine, Lipid Metabolism, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, chemistry, Child, Preschool, Knockout mouse, Quality of Life, biology.protein, Female, medicine.symptom, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e831c8e9bbac43cf440366855af6e2Test
https://doi.org/10.1093/hmg/ddx423Test -
2
المؤلفون: Olaf Riess, Juan Rong, Silke Metzger, Peter Propping, Juergen Tomiuk, Shihua Li, Austin Cape, Xiao-Jiang Li, Anne S. Soehn, Liang Tong, Yun Freudenberg-Hua, Jan Freudenberg, Huu Phuc Nguyen
المصدر: Human molecular genetics. 17(8)
مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Adolescent, Mutation, Missense, Nerve Tissue Proteins, Biology, chemistry.chemical_compound, Huntington's disease, Trinucleotide Repeats, Polymorphism (computer science), mental disorders, Genotype, Genetics, medicine, Humans, Age of Onset, Child, Molecular Biology, Gene, Genetics (clinical), Aged, Aged, 80 and over, Serotonin Plasma Membrane Transport Proteins, Methionine, Polymorphism, Genetic, Huntingtin-associated protein 1, General Medicine, Middle Aged, medicine.disease, nervous system diseases, Huntington Disease, chemistry, Amino Acid Substitution, Child, Preschool, biology.protein, Trinucleotide repeat expansion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f948169fb9f6ee2374cdada7a36497c7Test
https://pubmed.ncbi.nlm.nih.gov/18192679Test