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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: Yongping Chen, Ke Chen, Jean-Marc Burgunder, Qianqian Wei, Jing Yang, Bei Cao, Huifang Shang
المصدر: Neurological Research. 38:916-920
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Statistics as Topic, Disease, 030105 genetics & heredity, Irritability, Neuropsychiatry, Severity of Illness Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Trinucleotide Repeats, Huntington's disease, Rating scale, Internal medicine, Prevalence, medicine, Humans, Apathy, Psychiatry, Retrospective Studies, Psychiatric Status Rating Scales, Huntingtin Protein, Mood Disorders, General Medicine, Middle Aged, medicine.disease, Huntington Disease, Neurology, Anxiety, Female, Neurology (clinical), Age of onset, medicine.symptom, Cognition Disorders, Psychology, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72ff3cb438c946fb28c367f3d25035a4Test
https://doi.org/10.1080/01616412.2016.1214555Test -
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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, D. Lang, Jean-Marc Burgunder, A. Kaelin-Lang, N. Clerc
المصدر: European Journal of Neurology. 12:131-138
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Disease, Polymerase Chain Reaction, Torsion dystonia, Exon, SGCE, Sarcoglycans, Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Age of Onset, Family history, GTP Cyclohydrolase, Polymorphism, Single-Stranded Conformational, Dystonia, Polymorphism, Genetic, Genetic heterogeneity, business.industry, medicine.disease, nervous system diseases, Neurology, Dystonic Disorders, Mutation, Female, Neurology (clinical), Age of onset, business, Molecular Chaperones
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6f50cc9fb3b5283bceda48d9c588551Test
https://doi.org/10.1111/j.1468-1331.2004.00974.xTest -
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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: Kumar M. Prakash, Weidong Le, Wing Lok Au, Dario C. Angeles, Chin-Hsien Lin, Jean Marc Burgunder, Jianjun Liu, Patrick Ho, Joseph Jankovic, Louis C.S. Tan, Ruey-Meei Wu, Yik Ying Teo, Xue Ye Mao, Yi Zhao, Xue Li Chang, Rong Peng, Meng Ling Chen, Eng-King Tan
المصدر: Human mutation. 31(5)
مصطلحات موضوعية: Adult, Male, Disease, Biology, Protein Serine-Threonine Kinases, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Open Reading Frames, Young Adult, Asian People, Polymorphism (computer science), Risk Factors, Genetic variation, Genetics, Humans, Genetic Predisposition to Disease, Kinase activity, Age of Onset, Genetics (clinical), Aged, Aged, 80 and over, Polymorphism, Genetic, Case-control study, Genetic Variation, Parkinson Disease, Middle Aged, LRRK2, Relative risk, Case-Control Studies, Female, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::303e0aa4c814e2bd65f6a74e4aa3b0c4Test
https://pubmed.ncbi.nlm.nih.gov/20186690Test