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المؤلفون: Oliver W J, Quarrell, Martha A, Nance, Peg, Nopoulos, Ralf, Reilmann, Mayke, Oosterloo, Sarah J, Tabrizi, Hannah, Furby, Carsten, Saft, Raymund A C, Roos, Ferdinando, Squitieri, G Bernhard, Landwehrmeyer, Jean-Marc, Burgunder
المصدر: Movement disorders : official journal of the Movement Disorder Society. 34(4)
مصطلحات موضوعية: Male, Huntington Disease, Adolescent, Terminology as Topic, Humans, Female, Age of Onset, Child
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f8fc8abd5fbf7558e0af0cf0480d0628Test
https://pubmed.ncbi.nlm.nih.gov/30788860Test -
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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 -
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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 -
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المؤلفون: Huifang Shang, Zu-Ming Luo, Shu-Hui Wu, Shu-Shan Zhang, Yuan Yang, Qin Chen, Xueping Chen, Yang-Wei Zhang, Jean-Marc Burgunder
المصدر: Movement Disorders. 23:1472-1475
مصطلحات موضوعية: Male, Myoclonus, China, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, RNA Stability, Nonsense mutation, Gene mutation, Biology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Frameshift mutation, Exon, SGCE, Sarcoglycans, medicine, Humans, RNA, Messenger, Child, Frameshift Mutation, Dystonia, Genetics, Exons, medicine.disease, Introns, Stop codon, Pedigree, Mutagenesis, Insertional, Phenotype, Neurology, Codon, Nonsense, Dystonic Disorders, Mutation (genetic algorithm), Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49f29b383d1b454920c3367ff1697e3eTest
https://doi.org/10.1002/mds.22008Test -
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المؤلفون: Zhenzhen Zheng, Yuan Yang, Yongping Chen, Rui Huang, Jean-Marc Burgunder, Huifang Shang, Xueping Chen, Qianqian Wei
المصدر: Parkinsonismrelated disorders. 20(8)
مصطلحات موضوعية: Adult, Male, Mutation rate, Spastin, Adolescent, Hereditary spastic paraplegia, DNA Mutational Analysis, medicine.disease_cause, Exon, Asian People, Medicine, Missense mutation, Humans, Multiplex ligation-dependent probe amplification, Age of Onset, Child, Genetics, Adenosine Triphosphatases, Mutation, Base Sequence, business.industry, Spastic Paraplegia, Hereditary, Point mutation, Infant, Middle Aged, medicine.disease, Pedigree, Neurology, Child, Preschool, Female, Neurology (clinical), Geriatrics and Gerontology, business, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d44ef432e76a485755e57e74374483bbTest
https://pubmed.ncbi.nlm.nih.gov/24824479Test -
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المؤلفون: Yongping Chen, R. Huang, X. P. Chen, K. Chen, J. Yang, Jean-Marc Burgunder, B. Zhao, Wei Song, Huifang Shang, Z.-Z. Zheng
المصدر: European journal of neurology. 21(1)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, China, Adolescent, Aura, DNA Mutational Analysis, Nerve Tissue Proteins, medicine.disease_cause, Gastroenterology, Exon, Young Adult, Chorea, Internal medicine, medicine, Humans, In patient, Insertion, Age of Onset, Child, Gene, Genetics, Mutation, business.industry, Membrane Proteins, Paroxysmal dyskinesia, musculoskeletal system, Dystonia, Neurology, cardiovascular system, Female, Neurology (clinical), business, PRRT2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13f88ff53a02f70117dcfeae1035222Test
https://pubmed.ncbi.nlm.nih.gov/23496026Test -
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المؤلفون: Joachim K. Krauss, Andrea A. Kühn, Hubertus Maximilian Mehdorn, Jill L. Ostrem, Michele Tagliati, Jens Volkmann, Andreas Kupsch, Ioannis U. Isaias, Philip A. Starr, Jean-Marc Burgunder, W. M. Michael Schüpbach, T. Schönecker, Ron L. Alterman, René Reese
المصدر: Isaias, Ioannis U; Volkmann, Jens; Kupsch, Andreas; Burgunder, Jean-Marc; Ostrem, Jill L; Alterman, Ron L; Mehdorn, Hubertus Maximilian; Schönecker, Thomas; Krauss, Joachim K; Starr, Philip; Reese, Rene; Kühn, Andrea A; Schüpbach, W M Michael; Tagliati, Michele (2011). Factors predicting protracted improvement after pallidal DBS for primary dystonia: the role of age and disease duration. Journal of neurology, 258(8), pp. 1469-76. Heidelberg: Springer-Medizin-Verlag 10.1007/s00415-011-5961-9 <http://dx.doi.org/10.1007/s00415-011-5961-9Test>
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Deep brain stimulation, Neurology, Adolescent, medicine.medical_treatment, Disease duration, Deep Brain Stimulation, Globus Pallidus, Severity of Illness Index, Young Adult, Rating scale, medicine, Humans, Child, Neuroradiology, Retrospective Studies, Dystonia, Age Factors, Primary Dystonia, Recovery of Function, Middle Aged, medicine.disease, Prognosis, nervous system diseases, Surgery, Treatment Outcome, Dystonic Disorders, Female, Neurology (clinical), Implant, Psychology
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::314257d03d719588094b8af0d001367bTest
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المؤلفون: Xue-Li Chang, Jean-Marc Burgunder, Nan-Nan Li, Huihua Li, Eng-King Tan, Rong Peng, Xue-Ye Mao, Jin-Hong Zhang
المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (3)
مصطلحات موضوعية: Adult, Male, China, Adolescent, Genome-wide association study, Single-nucleotide polymorphism, Locus (genetics), Biology, Lower risk, Polymorphism, Single Nucleotide, Cellular and Molecular Neuroscience, Gene Frequency, SNP, Humans, Genetic Predisposition to Disease, Allele, Genetics (clinical), Genetic association, Aged, Genetics, Aged, 80 and over, Parkinson Disease, Middle Aged, LRRK2, Psychiatry and Mental health, Genetic Loci, Case-Control Studies, Female, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4cabfd878480d686ce9c3e900fe100dTest
https://pubmed.ncbi.nlm.nih.gov/21268244Test -
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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 -
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المؤلفون: Benjamin K.C. Ong, Raymond C.S. Seet, Roland Baur, Chew Soh Eng, Shang Huifang, Erle C.H. Lim, Walter Hunziker, Pascal Béguin, Erwin Sigel, Jean-Marc Burgunder
المصدر: Neuromuscular disorders : NMD. 18(8)
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, China, DNA, Complementary, Adolescent, Xenopus, Pain, Biology, Compound heterozygosity, medicine.disease_cause, Myotonia, Variable features, Chloride Channels, Internal medicine, medicine, Animals, Humans, Muscle, Skeletal, Exercise, Genetics (clinical), Genetics, Neurologic Examination, CLCN1, Mutation, Myotonia congenita, Electromyography, Reverse Transcriptase Polymerase Chain Reaction, medicine.disease, biology.organism_classification, Electrophysiology, Endocrinology, Neurology, Pediatrics, Perinatology and Child Health, Chloride channel, biology.protein, Oocytes, Female, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0c2fdf4dfca35d7248e8e99f8ec0c33Test
https://pubmed.ncbi.nlm.nih.gov/18579381Test