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المؤلفون: Huajing You, Tengteng Wu, Gang Du, Yue Huang, Yixuan Zeng, Lishan Lin, Dingbang Chen, Chao Wu, Xunhua Li, Jean-marc Burgunder, Zhong Pei
المصدر: Frontiers in Neurology
Frontiers in Neurology, Vol 12 (2021)
You, Huajing; Wu, Tengteng; Du, Gang; Huang, Yue; Zeng, Yixuan; Lin, Lishan; Chen, Dingbang; Wu, Chao; Li, Xunhua; Burgunder, Jean-Marc; Pei, Zhong (2021). Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease. Frontiers in neurology, 12, p. 779890. Frontiers Media S.A. 10.3389/fneur.2021.779890 <http://dx.doi.org/10.3389/fneur.2021.779890Test>مصطلحات موضوعية: medicine.medical_specialty, Neurofilament light, 610 Medicine & health, Disease, Gastroenterology, Huntington's disease, Internal medicine, medicine, Clinical severity, RC346-429, Motor score, Original Research, Word reading, neurofilament light protein, Glial fibrillary acidic protein, biology, business.industry, medicine.disease, Neurology, nervous system, glial fibrillary acidic protein, clinical severity, biology.protein, Biomarker (medicine), biomarker, Neurology (clinical), Neurology. Diseases of the nervous system, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48b4432e699acac04c598c74cc483beaTest
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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