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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 -
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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: Liliane Kappeler, André Schaller, C. Nguyen-Thi Xuan-Huong, J.F. Benoist, F. Seibold, K. Madhavi Vadday, Heinrich Mattle, Sabina Gallati, Jean-Marc Burgunder, Caspar Brekenfeld, W.M.M. Schüpbach
المصدر: Schüpbach, W; Vadday, K; Schaller, A; Brekenfeld, C; Kappeler, L; Benoist, JF; Xuan-Huong, C; Burgunder, J; Seibold, F; Gallati, S; Mattle, H (2007). Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features. Journal of neurology, 254(2), pp. 146-53. Heidelberg: Steinkopff-Verlag; www.steinkopff.springer.de 10.1007/s00415-006-0255-3 <http://dx.doi.org/10.1007/s00415-006-0255-3Test>
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, Magnetic Resonance Spectroscopy, Neural Conduction, Biology, Ophthalmoparesis, Leukoencephalopathy, Mitochondrial myopathy, Mitochondrial Encephalomyopathies, Internal medicine, Diseases in Twins, medicine, Humans, Thymidine phosphorylase, Radionuclide Imaging, Myopathy, Gastrointestinal dysmotility, Thymidine Phosphorylase, medicine.diagnostic_test, Siblings, Magnetic resonance imaging, Exons, Sequence Analysis, DNA, medicine.disease, Magnetic Resonance Imaging, Corpus Striatum, Substantia Nigra, Endocrinology, Neurology, Mutation, Neurology (clinical), medicine.symptom, Polyneuropathy, Thymidine
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::621d3faf22f8d20aee3d80c953f72997Test
http://doc.rero.ch/record/318521/files/415_2006_Article_255.pdfTest -
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المؤلفون: Simeon Schaub, Iris-Katharina Penner, Bettina Fischer-Barnicol, Jean-Marie Annoni, Özgür Yaldizli, Bettina Frey, Jana Pöttgen, Sara Bagutti, Dominik Zwahlen, Mireille Neuhaus, Marie‐ Dominique Martory, Jean-Marc Burgunder
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Multiple Sclerosis, Anxiety, Neuropsychological Tests, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, Cognition, Social cognition, Theory of mind, Medicine, Raw score, Humans, 0501 psychology and cognitive sciences, Effects of sleep deprivation on cognitive performance, Psychiatry, Social Behavior, 610 Medicine & health, Depression (differential diagnoses), Facial affect, business.industry, Depression, Multiple sclerosis, 05 social sciences, Middle Aged, medicine.disease, Neurology, Social Perception, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Clinical psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f51514869fd2dba4bdd97ab979c21dc7Test
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المؤلفون: Davide Pareyson, Jean marc Burgunder, Michelangelo Mancuso, Josef Finsterer, Thomas Klopstock
المصدر: Mitochondrion 42, 1-10 (2018). doi:10.1016/j.mito.2017.10.003
مصطلحات موضوعية: Retinal Ganglion Cells, Pathology, medicine.medical_specialty, Ophthalmoplegia, Chronic Progressive External, Visual acuity, genetic structures, Mitochondrial disease, Respiratory chain, Vision Disorders, Biology, pathology [Retinal Ganglion Cells], Retinal ganglion, Optic neuropathy, 03 medical and health sciences, 0302 clinical medicine, Atrophy, medicine, Humans, 610 Medicine & health, Molecular Biology, medicine.diagnostic_test, pathology [Ophthalmoplegia, Chronic Progressive External], Disease Management, Optic Nerve, Cell Biology, Anatomy, medicine.disease, therapy [Ophthalmoplegia, Chronic Progressive External], eye diseases, etiology [Vision Disorders], diagnosis [Ophthalmoplegia, Chronic Progressive External], ddc:540, Mutation, 030221 ophthalmology & optometry, Optic nerve, Molecular Medicine, medicine.symptom, pathology [Optic Nerve], 030217 neurology & neurosurgery, Electroretinography
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5935fa022a917be06aa7c8275559bbcdTest
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المؤلفون: Jean-Marc Burgunder
المصدر: Drug Discovery Today. 19:985-989
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Disease, Benign hereditary chorea, Huntington's disease, Chorea, mental disorders, Drug Discovery, Animals, Humans, Medicine, Genetic Testing, Pharmacology, Genetics, Dyskinesias, business.industry, Paroxysmal dyskinesia, medicine.disease, nervous system diseases, Huntington Disease, Mutation, Dynamic mutation, Spinocerebellar ataxia, medicine.symptom, business, PRRT2
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::714ba0f1a95ebbf61b0da6249e7e34deTest
https://doi.org/10.1016/j.drudis.2014.03.005Test -
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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 -
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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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المصدر: Parkinsonism & Related Disorders. 18:S107-S109
مصطلحات موضوعية: Involuntary movement, China, medicine.medical_specialty, Genotype, Chorea, Disease, Biology, medicine.disease, Phenotype, Huntington Disease, Neurology, Huntington's disease, Neuroacanthocytosis, medicine, Humans, Neurology (clinical), Geriatrics and Gerontology, Cognitive decline, medicine.symptom, Psychiatry, Neuroscience, Genome-Wide Association Study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6e6ef11ef62385290478b4865588ceTest
https://doi.org/10.1016/s1353-8020Test(11)70034-7 -
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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
