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

المؤلفون: Jean-Marc Burgunder, Yongping Chen, Yi Jiang, Xueping Chen, Ke Chen, Bi Zhao, Rui Huang, Bei Cao, Huifang Shang, Wei Song

المصدر: Journal of the Neurological Sciences. 323:228-231

مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Adolescent, Genotype, Bioinformatics, Polymorphism, Single Nucleotide, Young Adult, Asian People, Gene Frequency, Risk Factors, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Genetic Predisposition to Disease, Age of Onset, Allele, Sensory trick, 3' Untranslated Regions, Allele frequency, Alleles, Dystonia, business.industry, Middle Aged, Focal dystonia, medicine.disease, Genotype frequency, Minor allele frequency, Neurology, Dystonic Disorders, Case-Control Studies, Female, Neurology (clinical), business, Molecular Chaperones

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ce1e23969abce4f74f615c4ba914e9Test
https://doi.org/10.1016/j.jns.2012.09.025Test

المؤلفون: Wei Song, Yongping Chen, Rui Huang, Bei Cao, Jean-Marc Burgunder, Huifang Shang, Ke Chen, Bi Zhao, Jing Yang

المصدر: Parkinsonism & Related Disorders. 19:1043-1045

مصطلحات موضوعية: Adult, Male, China, medicine.medical_specialty, Blepharospasm, Polymorphism, Single Nucleotide, Gastroenterology, Young Adult, Methionine, Polymorphism (computer science), Internal medicine, Genotype, medicine, Humans, SNP, Cervical dystonia, Genetic Association Studies, Torticollis, Genetic association, Dystonia, Genetics, business.industry, Brain-Derived Neurotrophic Factor, Valine, Middle Aged, medicine.disease, Minor allele frequency, Neurology, Female, Neurology (clinical), Geriatrics and Gerontology, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a28b1d59197fca70bb86b85bb04e20eTest
https://doi.org/10.1016/j.parkreldis.2013.06.004Test

المؤلفون: Cong-Xia Lu, Qi-Lin Ma, Xiao-Rong Zhang, Jean-Marc Burgunder, Qing Lin, Xingkai An, Hongli Qu

المصدر: Neuroscience letters. 549

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Aura, Migraine Disorders, Gastroenterology, Polymorphism, Single Nucleotide, Asian People, Gene Frequency, Polymorphism (computer science), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Allele, Allele frequency, Lymphotoxin-alpha, Monoamine Oxidase, Alleles, Genetic Association Studies, Methylenetetrahydrofolate Reductase (NADPH2), Genetics, biology, business.industry, General Neuroscience, Middle Aged, medicine.disease, Migraine with aura, Migraine, Methylenetetrahydrofolate reductase, Case-Control Studies, biology.protein, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::760e5c59d44a69308955935743312675Test
https://pubmed.ncbi.nlm.nih.gov/23811028Test

المؤلفون: Jin-Hong Zhang, Xue-Ye Mao, Nan-Nan Li, Jean-Marc Burgunder, Huihua Li, Rong Peng, Eng-King Tan, Xue-Li Chang

المصدر: Journal of the neurological sciences. 302(1-2)

مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, China, Genotype, Ubiquitin-Protein Ligases, Population, Polymorphism, Single Nucleotide, Parkin, Polymorphism (computer science), Internal medicine, medicine, SNP, Humans, Risk factor, Allele, education, Promoter Regions, Genetic, Aged, Genetics, education.field_of_study, Polymorphism, Genetic, business.industry, Reverse Transcriptase Polymerase Chain Reaction, Parkinson Disease, Middle Aged, Genotype frequency, Neurology, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4e0b0e06e13e2ea10ff38636be9cfecTest
https://pubmed.ncbi.nlm.nih.gov/21176923Test

المؤلفون: Zijuan, Zhang, Jean-Marc, Burgunder, Xingkai, An, Yan, Wu, Wenjun, Chen, Jinhong, Zhang, Yingcheng, Wang, Yanming, Xu, Yingru, Gou, Guanggu, Yuan, Xueye, Mao, Rong, Peng

المصدر: Movement disorders : official journal of the Movement Disorder Society. 24(13)

مصطلحات موضوعية: Adult, Aged, 80 and over, Male, Adolescent, Genotype, Proline, DNA Mutational Analysis, Parkinson Disease, Middle Aged, Protein Serine-Threonine Kinases, Arginine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Young Adult, Asian People, Gene Frequency, Mutation, Humans, Female, Genetic Predisposition to Disease, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::86240a2b354239f13dee6ac6b0ef9014Test
https://pubmed.ncbi.nlm.nih.gov/19672984Test

المؤلفون: G.-G. Yuan, R. Peng, Jean-Marc Burgunder, Y.-M. Xu, Y.-C. Wang, W.-J. Chen, T. Li, Z.-J. Zhang, Y. Wu, X.-K. An, Y.-R. Gou, J.-H. Zhang

المصدر: European journal of neurology. 15(3)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Genotype, Population, Glycine, Protein Serine-Threonine Kinases, Arginine, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Gastroenterology, Asian People, Polymorphism (computer science), Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Risk factor, education, Aged, Genetics, Aged, 80 and over, education.field_of_study, Chi-Square Distribution, Polymorphism, Genetic, business.industry, Parkinsonism, Parkinson Disease, Odds ratio, Middle Aged, medicine.disease, LRRK2, Genotype frequency, Neurology, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4975f753c8b6c3bf2bffa1865817f56Test
https://pubmed.ncbi.nlm.nih.gov/18290841Test