المؤلفون: Katina Aleksovska, Teia Kobulashvili, Joao Costa, Georg Zimmermann, Karen Ritchie, Carola Reinhard, Luca Vignatelli, Alessandra Fanciulli, Maxwel Damian, Lucia Pavlakova, Jean‐Marc Burgunder, Svetlana Kopishinskaya, Martin Rakusa, Norbert Kovacs, Fusun Ferda Erdogan, Lori Renna Linton, Massimiliano Copetti, Costanza Lamperti, Serenella Servidei, Theresina Evangelista, Segolene Ayme, Davide Pareyson, Johann Sellner, Christian Krarup, Marianne de Visser, Peter van den Bergh, Antonio Toscano, Holm Graessner, Thomas Berger, Claudio Bassetti, Marie Vidailhet, Eugene Trinka, Guenther Deuschl, Antonio Federico, Maurizio A. Leone

المساهمون: Repositório da Universidade de Lisboa, Neurology, ANS - Neuroinfection & -inflammation

المصدر: European journal of neurology, 29(6), 1571-1586. Wiley-Blackwell

مصطلحات موضوعية: AGREE, recommendation, consensus, neurology, Practice Guidelines as Topic, Humans, rare diseases, Neurology (clinical), Nervous System Diseases, 610 Medicine & health, Delphi, guideline

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::656400a6389d2f66ec5d4fad84207509Test
http://www.scopus.com/inward/record.url?scp=85127364547&partnerID=8YFLogxKTest

المؤلفون: Quang Tuan Rémy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Lévi

المصدر: Frontiers in Neurology, Vol 13 (2022)
Nguyen, Quang Tuan Rémy; Ortigoza Escobar, Juan Dario; Burgunder, Jean-Marc; Mariotti, Caterina; Saft, Carsten; Hjermind, Lena Elisabeth; Youssov, Katia; Landwehrmeyer, G Bernhard; Bachoud-Lévi, Anne-Catherine (2022). Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy. Frontiers in neurology, 13, p. 817753. Frontiers Media S.A. 10.3389/fneur.2022.817753 <http://dx.doi.org/10.3389/fneur.2022.817753Test>

مصطلحات موضوعية: daily clinical practice, diagnosis, 610 Medicine & health, Huntington-Chorea, Huntington's disease, phenocopy, Huntington disease, Diagnosis, Diagnosis, Differential, Diagnostik, Neurology, differential diagnosis, chorea, ddc:610, Neurology (clinical), guidelines, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: application/pdf; image/tiff; application/octet-stream

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d3f673504f450037b032e035dac6a5Test
https://www.frontiersin.org/articles/10.3389/fneur.2022.817753/fullTest

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

المؤلفون: Jean-Marc Burgunder, Raymund A.C. Roos, Johan Marinus, Ralf Reilmann, Jessica Y. Winder

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

المؤلفون: Tim Vanbellingen, Manuel Bertschi, Sebastian Walther, Jean-Marc Burgunder, Bruno Weder, Katharina Stegmayer, Stephan Bohlhalter, Stefanie Kübel, Eugenio Abela, Manuela Pastore-Wapp

المصدر: NeuroImage : Clinical
Kübel, S, Stegmayer, K, Vanbellingen, T, Pastore-Wapp, M, Bertschi, M, Burgunder, J-M, Abela, E, Weder, B, Walther, S & Bohlhalter, S 2017, ' Altered praxis network underlying limb kinetic apraxia in Parkinson's disease : an fMRI study ', NeuroImage: Clinical . https://doi.org/10.1016/j.nicl.2017.07.007Test
Kübel, Stefanie; Stegmayer, Katharina; Vanbellingen, Tim; Pastore-Wapp, Manuela; Bertschi, Manuel; Burgunder, Jean-Marc; Abela, Eugenio; Weder, Bruno; Walther, Sebastian; Bohlhalter, Stephan (2017). Altered praxis network underlying limb kinetic apraxia in Parkinson's disease-an fMRI study. NeuroImage: Clinical, 16, pp. 88-97. Elsevier 10.1016/j.nicl.2017.07.007 <http://dx.doi.org/10.1016/j.nicl.2017.07.007Test>
NeuroImage: Clinical, Vol 16, Iss, Pp 88-97 (2017)

مصطلحات موضوعية: Male, Parkinson's disease, Apraxia, Hippocampus, lcsh:RC346-429, Functional connectivity, 0302 clinical medicine, Neural Pathways, Image Processing, Computer-Assisted, 610 Medicine & health, Motor skill, Dexterity, medicine.diagnostic_test, 05 social sciences, Brain, Regular Article, Parkinson Disease, Middle Aged, Fine motor skill, Magnetic Resonance Imaging, Motor Skills Disorders, medicine.anatomical_structure, Neurology, lcsh:R858-859.7, Female, Psychology, Apraxias, Cognitive Neuroscience, Movement, lcsh:Computer applications to medicine. Medical informatics, behavioral disciplines and activities, 050105 experimental psychology, Executive control, Premotor cortex, 03 medical and health sciences, medicine, Humans, 0501 psychology and cognitive sciences, Radiology, Nuclear Medicine and imaging, lcsh:Neurology. Diseases of the nervous system, Aged, Inferior parietal lobule, Extremities, medicine.disease, Oxygen, Case-Control Studies, Finger tapping, Coin rotation, Neurology (clinical), Functional magnetic resonance imaging, Mental Status Schedule, Neuroscience, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62024a58ca7cec15d9c044f4af256792Test
http://europepmc.org/articles/PMC5527158Test

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

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

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

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

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