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المؤلفون: Jean-Marc, Burgunder
المصدر: Burgunder, Jean-Marc (2022). Chorea: An Update on Genetics. European neurology, 85(5), pp. 342-348. Karger 10.1159/000526237 <http://dx.doi.org/10.1159/000526237Test>
مصطلحات موضوعية: Huntington Disease, Phenotype, Neurology, Chorea, Humans, 610 Medicine & health, Neurology (clinical)
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e1e15b14a85a350ec263c3abb5b4bdcTest
https://boris.unibe.ch/172618/1/document.pdfTest -
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المؤلفون: Zhi-Jun Liu, Hong-Rong Cheng, Yi Dong, Yan-Bin Zhang, Xiao-Yan Li, Shi-Rui Gan, Hong-Lei Li, Wang Ni, Zhi-Ying Wu, X. William Yang, Jean-Marc Burgunder
المصدر: Aging and Disease
Li, Hong-Lei; Li, Xiao-Yan; Dong, Yi; Zhang, Yan-Bin; Cheng, Hong-Rong; Gan, Shi-Rui; Liu, Zhi-Jun; Ni, Wang; Burgunder, Jean-Marc; Yang, X William; Wu, Zhi-Ying (2019). Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China. Aging and disease, 10(5), pp. 1003-1011. Aging and Disease 10.14336/AD.2018.0911 <http://dx.doi.org/10.14336/AD.2018.0911Test>مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, phenotype, Offspring, genotype, 610 Medicine & health, Disease, Exponential regression, Orginal Article, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Huntingtin Gene, Huntington's disease, Internal medicine, Genotype, medicine, business.industry, Cell Biology, medicine.disease, 030104 developmental biology, Multicenter study, Cohort, Neurology (clinical), Chinese population, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Huntington’s disease
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a9a8f05a96c592a043c22b4f49ce6eTest
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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