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

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: 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

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

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

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

المؤلفون: Jean-Marc Burgunder, Soh-Eng Chew, Benjamin K.C. Ong, Yee Cheun Chan, Einar Wilder-Smith, Karen M.J. Lam-Mok-Sing, Vivek Sharma

المصدر: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 15(8)

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Migraine with Aura, Germline mosaicism, Electroencephalography, Asymptomatic, Leucine, Seizures, Physiology (medical), Serine, Medicine, Humans, Child, Familial hemiplegic migraine, Family Health, medicine.diagnostic_test, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Migraine with aura, Hemiparesis, Neurology, Cortical spreading depression, Anesthesia, Mutation (genetic algorithm), Mutation, Surgery, Female, Neurology (clinical), Calcium Channels, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::234f19024374be0a8e122391fe82ca49Test
https://pubmed.ncbi.nlm.nih.gov/18313928Test