-
1
المؤلفون: Tiago A. Mestre, Cristina Sampaio, Wim Vandenberghe, Klaus Seppi, Erin Furr-Stimming, Anne Elizabeth Rosser, Melissa J. Nirenberg, Joaquim J. Ferreira, Anna Rita Bentivoglio, Filipe B. Rodrigues, Sarah J. Tabrizi, Gonçalo S Duarte, João Costa, Jan Roth, Jaime Kulisevsky, Francis O. Walker, Francisco Cardoso, Jean-Marc Burgunder, Jarosław Sławek, Anne-Catherine Bachoud-Lévi, Daniel O. Claassen, G Bernard Landwehrmeyer
المساهمون: Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: Occupational therapy, Evidence-based medicine, medicine.medical_specialty, health care facilities, manpower, and services, education, Tetrabenazine, Apathy, law.invention, Randomized controlled trial, Huntington's disease, Chorea, law, medicine, Humans, GRADE approach, health care economics and organizations, Dystonia, Movement Disorders, business.industry, medicine.disease, nervous system diseases, drug therapy, Settore MED/26 - NEUROLOGIA, Huntington Disease, Neurology, Deutetrabenazine, Physical therapy, Drug therapy, Neurology (clinical), medicine.symptom, evidence-based medicine, business
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bafc11b9f83da3287793893b776185f5Test
https://doi.org/10.1002/mds.28855Test -
2
المصدر: Movement Disorders Clinical Practice. 5:290-295
مصطلحات موضوعية: 0301 basic medicine, Dystonia, medicine.medical_specialty, business.industry, Intraclass correlation, Certification, medicine.disease, Trunk, 03 medical and health sciences, Inter-rater reliability, 030104 developmental biology, 0302 clinical medicine, Neurology, Huntington's disease, Rating scale, Physical therapy, Medicine, Neurology (clinical), business, 030217 neurology & neurosurgery, Motor score
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a03b7019334f0ff000ce4c4d51bfb432Test
https://doi.org/10.1002/mdc3.12618Test -
3
المؤلفون: Mike Horton, Oliver Quarrell, Martha Nance, Ferdinando Squitieri, G. Bernhard Landwehrmeyer, Peggy Nopoulos, Roger A. Barker, Jean-Marc Burgunder
المصدر: Clinical studies.
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, Rasch model, Scale (ratio), Chorea, Disease, medicine.disease, Physical medicine and rehabilitation, Rating scale, medicine, Pairwise comparison, medicine.symptom, Set (psychology), Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ffaf4de22a7da3a0ad527b61962f259dTest
https://doi.org/10.1136/jnnp-2018-ehdn.118Test -
4
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 -
5
المؤلفون: X.-H. Hu, Y.-W. Zhang, D.-F. Fang, Huifang Shang, Jean-Marc Burgunder, X. P. Chen, S.-S. Zhang
المصدر: European Journal of Neurology. 17:846-851
مصطلحات موضوعية: Dystonia, medicine.medical_specialty, business.industry, Focal dystonia, medicine.disease, Hospital Anxiety and Depression Scale, Neurology, Internal medicine, medicine, Physical therapy, Anxiety, Neurology (clinical), Cervical dystonia, Family history, Age of onset, medicine.symptom, business, Depression (differential diagnoses)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::216f76dcd5489b967c6086f16fead54aTest
https://doi.org/10.1111/j.1468-1331.2009.02944.xTest -
6
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 -
7
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 -
8
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 -
9
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 73:395-399
مصطلحات موضوعية: Paper, Adult, Male, medicine.medical_specialty, Deep brain stimulation, Parkinson's disease, genetic structures, medicine.medical_treatment, Electric Stimulation Therapy, Neurological disorder, Globus Pallidus, Severity of Illness Index, Central nervous system disease, Severity of illness, medicine, Humans, Prospective Studies, Prospective cohort study, Aged, Muscle Cramp, Dystonia, business.industry, Parkinson Disease, Middle Aged, medicine.disease, Electrodes, Implanted, nervous system diseases, Surgery, Psychiatry and Mental health, Treatment Outcome, Sensation Disorders, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies, Muscle cramp
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc18c5587096dad46bbce68de2658b4Test
https://doi.org/10.1136/jnnp.73.4.395Test -
10
المؤلفون: Huifang Shang, Jean-Marc Burgunder, Yongping Chen, Wei Song, R. Huang
المصدر: European Journal of Neurology. 19:924-926
مصطلحات موضوعية: Dystonia, Genetics, business.industry, Primary Dystonia, medicine.disease, Bioinformatics, Dyt1 gene, nervous system diseases, Exon, Neurology, Cohort, otorhinolaryngologic diseases, medicine, SNP, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e664f95871f55067b1cb082958415abTest
https://doi.org/10.1111/j.1468-1331.2011.03582.xTest