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المؤلفون: Noelle E. Carlozzi, Francis O. Walker, Glenn T. Stebbins, Filipe B. Rodrigues, Esther Cubo, Cristina Sampaio, Jean-Marc Burgunder, Pablo Martinez-Martin, Aileen K Ho, Monica Busse, Lori Quinn, Aileen M. Davis, Christopher G. Goetz, Tiago A. Mestre
المصدر: Movement Disorders Clinical Practice. 5:361-372
مصطلحات موضوعية: 030506 rehabilitation, medicine.medical_specialty, Activities of daily living, business.industry, Tinetti test, Test (assessment), Clinical trial, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Neurology, Rating scale, Berg Balance Scale, Medicine, Neurology (clinical), Functional ability, 0305 other medical science, business, 030217 neurology & neurosurgery, Balance (ability)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9ed105990f63b8e539d1867d0065b74bTest
https://doi.org/10.1002/mdc3.12617Test -
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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 -
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المؤلفون: Anne-Catherine Bachoud-Lévi, Joaquim Ferreira, Renaud Massart, Katia Youssov, Anne Rosser, Monica Busse, David Craufurd, Ralf Reilmann, Giuseppe De Michele, Daniela Rae, Ferdinando Squitieri, Klaus Seppi, Charles Perrine, Clarisse Scherer-Gagou, Olivier Audrey, Christophe Verny, Jean-Marc Burgunder
المساهمون: Bachoud-Levi, A. -C., Ferreira, J., Massart, R., Youssov, K., Rosser, A., Busse, M., Craufurd, D., Reilmann, R., De Michele, G., Rae, D., Squitieri, F., Seppi, K., Perrine, C., Scherer-Gagou, C., Audrey, O., Verny, C., Burgunder, J. -M., Gestionnaire, Hal Sorbonne Université, Centre de référence maladie de Huntington, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Henri Mondor, Institut de neurosciences translationnelles de Paris (NeurATRIS - IHU-A-ICM), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Cardiff University, University of Manchester [Manchester], Saint Mary's Hospital [London], St Mary's Hospital [London], University of Naples Federico II = Università degli studi di Napoli Federico II, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), University of Bern, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Trousseau [APHP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Naples Federico II, Innsbruck Medical University [Austria] (IMU), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA)
المصدر: Frontiers in Neurology, Vol 10 (2019)
Bachoud-Lévi, Anne-Catherine; Ferreira, Joaquim; Massart, Renaud; Youssov, Katia; Rosser, Anne; Busse, Monica; Craufurd, David; Reilmann, Ralf; De Michele, Giuseppe; Rae, Daniela; Squitieri, Ferdinando; Seppi, Klaus; Perrine, Charles; Scherer-Gagou, Clarisse; Audrey, Olivier; Verny, Christophe; Burgunder, Jean-Marc (2019). International Guidelines for the Treatment of Huntington's Disease. Frontiers in neurology, 10(710), p. 710. Frontiers Media S.A. 10.3389/fneur.2019.00710 <http://dx.doi.org/10.3389/fneur.2019.00710Test>
Frontiers in Neurology
Frontiers in Neurology, 2019, 10, pp.710. ⟨10.3389/fneur.2019.00710⟩
Frontiers in Neurology, Frontiers, 2019, 10, pp.710. ⟨10.3389/fneur.2019.00710⟩مصطلحات موضوعية: medicine.medical_specialty, 610 Medicine & health, Computer-assisted web interviewing, Disease, Guideline, lcsh:RC346-429, Scientific evidence, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Policy and Practice Reviews, Huntington's disease, Multidisciplinary approach, medicine, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], guidelines, care, lcsh:Neurology. Diseases of the nervous system, 030304 developmental biology, 0303 health sciences, treatment, business.industry, Cognition, medicine.disease, clinical practice, 3. Good health, Clinical Practice, Neurology, Family medicine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Neurology (clinical), business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9676a9fa2e156168f46184787d696f5Test
https://doi.org/10.3389/fneur.2019.00710Test -
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المؤلفون: Hong-Lei Li, Yi Dong, Wang Ni, Shi-Rui Gan, Zhi-Jun Liu, Hong-Rong Cheng, Bin Gao, Xiao-Yan Li, Zhi-Ying Wu, Jean-Marc Burgunder
المصدر: European journal of neurologyReferences. 27(2)
مصطلحات موضوعية: Genotype, Disease, Polymorphism, Single Nucleotide, Haplogroup, Chromosomes, 03 medical and health sciences, 0302 clinical medicine, Huntington's disease, Asian People, Htt gene, Prevalence, Medicine, Humans, 030212 general & internal medicine, Alleles, Genetics, Chinese population, Genetic diversity, Huntingtin Protein, business.industry, Haplotype, medicine.disease, Huntington Disease, Neurology, Haplotypes, Neurology (clinical), business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d6ea166329fc09549674da21d8a24dcTest
https://pubmed.ncbi.nlm.nih.gov/31444920Test -
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المؤلفون: Jessica Y, Winder, Raymund A C, Roos, Jean-Marc, Burgunder, Johan, Marinus, Ralf, Reilmann
المصدر: Movement disorders clinical practice. 5(3)
مصطلحات موضوعية: Research Articles
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::a08ba356ea5daaee349ef873c5e392ecTest
https://pubmed.ncbi.nlm.nih.gov/30363437Test -
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المؤلفون: Fengyin Liang, Shichang Li, Jean-Marc Burgunder, Guangqing Xu, Qinmei Wang, Yixuan Zeng, Xi-Lin Lu, Wenyuan Guo, Zhong Pei, Jie-Bin Zhou, Ji-Yan Pang, Yi Huang, Simei Long, Luyang Feng
المصدر: Drug Design, Development and Therapy
مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Huntingtin, Mutant, Pharmaceutical Science, Protein aggregation, Neuroprotection, molecular target, Small Molecule Libraries, xyloketal derivatives, 03 medical and health sciences, Protein Aggregates, Huntington's disease, mutant Huntingtin, Drug Discovery, mental disorders, medicine, Huntingtin Protein, Animals, protein misfolding, Caenorhabditis elegans, Pyrans, Original Research, Pharmacology, Genetics, Drug Design, Development and Therapy, biology, Chorea, biology.organism_classification, medicine.disease, Cell biology, nervous system diseases, Molecular Docking Simulation, Disease Models, Animal, 030104 developmental biology, Huntington Disease, Neuroprotective Agents, medicine.symptom, Huntington’s disease
وصف الملف: text/html
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc8fcea67e2258c9d419944fe7fc01e0Test
https://pubmed.ncbi.nlm.nih.gov/27110099Test -
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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 -
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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: Jean-Marc Burgunder, Walter Hunziker
المصدر: IUBMB Life (International Union of Biochemistry and Molecular Biology: Life). 55:347-352
مصطلحات موضوعية: Atlastin, Spastin, Hereditary spastic paraplegia, Proteolipids, Clinical Biochemistry, Kinesins, Cell Cycle Proteins, Degeneration (medical), Biochemistry, GTP Phosphohydrolases, GTP-Binding Proteins, Genetics, medicine, Humans, Spasticity, Molecular Biology, Adenosine Triphosphatases, Spastic Paraplegia, Hereditary, Gait Disturbance, business.industry, Calcium-Binding Proteins, Membrane Proteins, Proteins, Chaperonin 60, Cell Biology, medicine.disease, nervous system diseases, Membrane protein, Corticospinal tract, medicine.symptom, Hereditary Sensory and Motor Neuropathy, business, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::561f8e03c7635c57160d33384192a9e4Test
https://doi.org/10.1080/1521654032000114311Test -
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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