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Oosterloo, Mayke; Touze, Alexiane; Byrne, Lauren M; Achenbach, Jannis; Aksoy, Hande; Coleman, Annabelle; Lammert, Dawn; Nance, Martha; Nopoulos, Peggy; Reilmann, Ralf; Saft, Carsten; Santini, Helen; Squitieri, Ferdinando; Tabrizi, Sarah; Burgunder, Jean-Marc; Quarrell, Oliver (2024). Clinical Review of Juvenile Huntington's Disease. Journal of Huntington's disease, 13(2), pp. 149-161. IOS Press 10.3233/JHD-231523
Xia, Jie-Qiang; Cheng, Yang-Fan; Zhang, Si-Rui; Ma, Yuan-Zheng; Fu, Jia-Jia; Yang, Tian-Mi; Zhang, Ling-Yu; Burgunder, Jean-Marc; Shang, Hui-Fang (2024). The characteristic and prognostic role of blood inflammatory markers in patients with Huntington's disease from China. Frontiers in neurology, 15(1374365) Frontiers Media S.A. 10.3389/fneur.2024.1374365
Saft, Carsten; Burgunder, Jean-Marc; Dose, Matthias; Jung, Hans Heinrich; Katzenschlager, Regina; Priller, Josef; Nguyen, Huu Phuc; Reetz, Kathrin; Reilmann, Ralf; Seppi, Klaus; Landwehrmeyer, Georg Bernhard (2023). Differential diagnosis of chorea (guidelines of the German Neurological Society). Neurological research and practice, 5(1), p. 63. BioMed Central 10.1186/s42466-023-00292-2
Saft, Carsten; Burgunder, Jean-Marc; Dose, Matthias; Jung, Hans Heinrich; Katzenschlager, Regina; Priller, Josef; Nguyen, Huu Phuc; Reetz, Kathrin; Reilmann, Ralf; Seppi, Klaus; Landwehrmeyer, Georg Bernhard (2023). Symptomatic treatment options for Huntington's disease (guidelines of the German Neurological Society). Neurological research and practice, 5(1), p. 61. BioMed Central 10.1186/s42466-023-00285-1
Cheng, Yang-Fan; Liu, Kun-Cheng; Yang, Tian-Mi; Xiao, Yi; Jiang, Qi-Rui; Huang, Jing-Xuan; Zhang, Sirui; Wei, Qian-Qian; Ou, Ru-Wei; Li, Chun-Yu; Gu, Xiao-Jing; Burgunder, Jean-Marc; Shang, Hui-Fang (2023). Factors influencing cognitive function in patients with Huntington's disease from China: A cross-sectional clinical study. Brain and Behavior, 13(11), e3258. Wiley 10.1002/brb3.3258
Cheng, Yangfan; Gu, Xiaojing; Liu, Kuncheng; Yang, Tianmi; Xiao, Yi; Jiang, Qirui; Huang, Jingxuan; Lin, Junyu; Wei, Qianqian; Ou, Ruwei; Hou, Yanbing; Zhang, Lingyu; Li, Chunyu; Burgunder, Jean-Marc; Shang, Huifang (2022). The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington's Disease from China: A Cross-Sectional Study. Journal of clinical medicine, 12(1) MDPI 10.3390/jcm12010206
Li, Xiao-Yan; Bao, Yu-Feng; Xie, Juan-Juan; Qian, Shu-Xia; Gao, Bin; Xu, Miao; Dong, Yi; Burgunder, Jean-Marc; Wu, Zhi-Ying (2022). The Chinese Version of UHDRS in Huntington's Disease: Reliability and Validity Assessment. Journal of Huntington's disease, 11(4), pp. 407-413. IOS Press 10.3233/JHD-220542
Burgunder, Jean-Marc (2022). Chorea: An Update on Genetics. European neurology, 85(5), pp. 342-348. Karger 10.1159/000526237
Aleksovska, Katina; Kobulashvili, Teia; Costa, Joao; Zimmermann, Georg; Ritchie, Karen; Reinhard, Carola; Vignatelli, Luca; Fanciulli, Alessandra; Damian, Maxwel; Pavlakova, Lucia; Burgunder, Jean-Marc; Kopishinskaya, Svetlana; Rakusa, Martin; Kovacs, Norbert; Erdogan, Fusun Ferda; Linton, Lori Renna; Copetti, Massimiliano; Lamperti, Costanza; Servidei, Serenella; Evangelista, Theresina; ... (2022). European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases. European journal of neurology, 29(6), pp. 1571-1586. Wiley 10.1111/ene.15267
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). Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy. Frontiers in neurology, 13, p. 891800. Frontiers Media S.A. 10.3389/fneur.2022.891800
Ferreira, Joaquim J; Rodrigues, Filipe B; Duarte, Gonçalo S; Mestre, Tiago A; Bachoud-Levi, Anne-Catherine; Bentivoglio, Anna Rita; Burgunder, Jean-Marc; Cardoso, Francisco; Claassen, Daniel O; Landwehrmeyer, G Bernard; Kulisevsky, Jaime; Nirenberg, Melissa J; Rosser, Anne; Roth, Jan; Seppi, Klaus; Slawek, Jaroslaw; Furr-Stimming, Erin; Tabrizi, Sarah J; Walker, Francis O; Vandenberghe, Wim; ... (2022). A MDS Evidence-Based Review on Treatments for Huntington's Disease. Movement disorders, 37(1), pp. 25-35. Wiley-Blackwell 10.1002/mds.28855
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
Guttman, Mark; Pedrazzoli, Marco; Ponomareva, Marina; Pelletier, Marsha; Townson, Louisa; Mukelabai, Kopano; Levine, Aaron; Nordström, Anna-Lena; Reilmann, Ralf; Burgunder, Jean-Marc (2021). The Impact of Upcoming Treatments in Huntington's Disease: Resource Capacity Limitations and Access to Care Implications. Journal of Huntington's disease, 10(2), pp. 303-311. IOS Press 10.3233/JHD-200462
You, Huajing; Wu, Tengteng; Du, Gang; Huang, Yue; Zeng, Yixuan; Lin, Lishan; Chen, Dingbang; Wu, Chao; Li, Xunhua; Burgunder, Jean-Marc; Pei, Zhong (2021). Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease. Frontiers in neurology, 12, p. 779890. Frontiers Media S.A. 10.3389/fneur.2021.779890
Kaelin-Lang, Alain; You, Hana; Burgunder, Jean-Marc; Lönnfors-Weitze, Tarja; Loher, Thomas J.; Taub, Ethan; Isaias, Ioannis U; Krauss, Joachim K; Schüpbach, W. M. Michael (2020). Bilateral pallidal stimulation improves cervical dystonia for more than a decade. Parkinsonism & related disorders, 81, pp. 78-81. Elsevier 10.1016/j.parkreldis.2020.10.028
Nef, Tobias; Chesham, Alvin; Schütz, Narayan; Botros, Angela Amira; Vanbellingen, Tim; Burgunder, Jean-Marc; Müllner, Julia; Müri, René Martin; Urwyler, Prabitha (2020). Development and Evaluation of Maze-Like Puzzle Games to Assess Cognitive and Motor Function in Aging and Neurodegenerative Diseases. Frontiers in aging neuroscience, 12(87), p. 87. Frontiers Research Foundation 10.3389/fnagi.2020.00087
Li, X-Y; Li, H-L; Dong, Y; Gao, B; Cheng, H-R; Ni, W; Gan, S-R; Liu, Z-J; Burgunder, Jean-Marc; Wu, Z-Y (2020). Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease. European journal of neurology, 27(2), pp. 273-279. Wiley 10.1111/ene.14072
Li, Hong-Lei; Li, Xiao-Yan; Dong, Yi; Zhang, Yan-Bin; Cheng, Hong-Rong; Gan, Shi-Rui; Liu, Zhi-Jun; Ni, Wang; Burgunder, Jean-Marc; Yang, X William; Wu, Zhi-Ying (2019). Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China. Aging and disease, 10(5), pp. 1003-1011. Aging and Disease 10.14336/AD.2018.0911
Lachenmayer, Lenard; Bettschen, Cindy; Bernasconi, Corrado; Petermann, Katrin; Debove, Ines; Müllner, Julia; Michelis, Joan Philipp; Burgunder, Jean-Marc; Krauss, J K; Oertel, M F; Pollo, C; Kaelin-Lang, A; Schüpbach, Michael (2019). Stimulation of the globus pallidus internus in the treatment of Parkinson's disease: Long-term results of a monocentric cohort. Parkinsonism & related disorders, 64, pp. 118-123. Elsevier 10.1016/j.parkreldis.2019.03.009
Ho, Aileen K; Horton, Mike C; Landwehrmeyer, G Bernhard; Burgunder, Jean-Marc; Tennant, Alan (2019). Meaningful and Measurable Health Domains in Huntington's Disease: Large-Scale Validation of the Huntington's Disease Health-Related Quality of Life Questionnaire Across Severity Stages. Value in health, 22(6), pp. 712-720. Elsevier 10.1016/j.jval.2019.01.016
Quarrell, Oliver W J; Nance, Martha A; Nopoulos, Peg; Reilmann, Ralf; Oosterloo, Mayke; Tabrizi, Sarah J; Furby, Hannah; Saft, Carsten; Roos, Raymund A C; Squitieri, Ferdinando; Landwehrmeyer, G Bernhard; Burgunder, Jean-Marc (2019). Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease? Movement disorders, 34(4), pp. 584-585. Wiley-Blackwell 10.1002/mds.27640
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
Horton, Mike C; Nopoulos, Peggy; Nance, Martha; Landwehrmyer, G Bernhard; Barker, Roger A; Squitieri, Ferdinando; Burgunder, Jean-Marc; Quarrell, Oliver (2019). Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease. Journal of Huntington's disease, 8(2), pp. 181-193. IOS Press 10.3233/JHD-180306
Vez, S.; Kohli, J.; Frey, B.; Magezi, D. A.; Annoni, J. M.; Burgunder, Jean-Marc (2018). Auditory time perception in Huntington's disease. Neuropsychologia, 119, pp. 247-252. Elsevier 10.1016/j.neuropsychologia.2018.08.018
Finsterer, Josef; Mancuso, Michelangelo; Pareyson, Davide; Burgunder, Jean-Marc; Klopstock, Thomas (2018). Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion, 42, pp. 1-10. Elsevier 10.1016/j.mito.2017.10.003
Mestre, T. A.; Busse, M.; Davis, A. M.; Quinn, L.; Rodrigues, F. B.; Burgunder, Jean-Marc; Carlozzi, N. E.; Walker, F.; Ho, A. K.; Sampaio, C.; Goetz, C. G.; Cubo, E.; Martinez-Martin, P.; Stebbins, G. T. (2018). Rating Scales and Performance-based Measures for Assessment of Functional Ability in Huntington's Disease: Critique and Recommendations. Movement disorders clinical practice, 5(4), pp. 361-372. Wiley 10.1002/mdc3.12617
Winder, J. Y.; Roos, R. A. C.; Burgunder, Jean-Marc; Marinus, J.; Reilmann, R. (2018). Interrater Reliability of the Unified Huntington's Disease Rating Scale-Total Motor Score Certification. Movement disorders clinical practice, 5(3), pp. 290-295. Wiley 10.1002/mdc3.12618
Mestre, T. A.; Carlozzi, N. E.; Ho, A. K.; Burgunder, Jean-Marc; Walker, F.; Davis, A. M.; Busse, M.; Quinn, L.; Rodrigues, F. B.; Sampaio, C.; Goetz, C. G.; Cubo, E.; Martinez-Martin, P.; Stebbins, G. T. (2018). Quality of Life in Huntington's Disease: Critique and Recommendations for Measures Assessing Patient Health-Related Quality of Life and Caregiver Quality of Life. Movement disorders, 33(5), pp. 742-749. Wiley-Blackwell 10.1002/mds.27317
Aubry, Emilie; Aeberhard, Carla; Bally, Lia; Nuoffer, Jean-Marc; Risch, Lorenz; Mühlebach, Stefan; Burgunder, Jean-Marc; Stanga, Zeno (2018). Are patients affected by mitochondrial disorders at nutritional risk? Nutrition, 47, pp. 56-62. Elsevier 10.1016/j.nut.2017.09.011
Neuhaus, M; Bagutti, S; Yaldizli, Ö; Zwahlen, D; Schaub, S; Frey, B; Fischer-Barnicol, B; Burgunder, Jean-Marc; Martory, M-D; Pöttgen, J; Annoni, J-M; Penner, I-K (2018). Characterization of social cognition impairment in multiple sclerosis. European journal of neurology, 25(1), pp. 90-96. Wiley-Blackwell 10.1111/ene.13457
Frese, Sebastian; Petersen, Jens A; Ligon-Auer, Maria; Mueller, Sandro Manuel; Mihaylova, Violeta; Gehrig, Saskia M; Kana, Veronika; Rushing, Elisabeth J; Unterburger, Evelyn; Kägi, Georg; Burgunder, Jean-Marc; Toigo, Marco; Jung, Hans H (2017). Exercise effects in Huntington disease. Journal of neurology, 264(1), pp. 32-39. Springer-Medizin-Verlag 10.1007/s00415-016-8310-1
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
Wiest, Roland; Burgunder, Jean-Marc; Kiefer, Claus (2017). Model-Based Magnetization Transfer Imaging Markers to Characterize Patients and Asymptomatic Gene Carriers in Huntington's Disease. Frontiers in neurology, 8(465), p. 465. Frontiers Media S.A. 10.3389/fneur.2017.00465
Liu, Wanglin; Yang, Jing; Burgunder, Jean-Marc; Cheng, Bochao; Shang, Huifang (2016). Diffusion imaging studies of Huntington's disease: A meta-analysis. Parkinsonism & related disorders, 32, pp. 94-101. Elsevier 10.1016/j.parkreldis.2016.09.005
Yang, Jing; Chen, Ke; Wei, Qianqian; Chen, Yongping; Cao, Bei; Burgunder, Jean-Marc; Shang, Hui-Fang (2016). Clinical and genetic characteristics in patients with Huntington's disease from China. Neurological research, 38(10), pp. 916-920. Maney 10.1080/01616412.2016.1214555
Lachenmayer, Lenard; Bettschen, C.; Debove, Ines; Müllner, Julia Nicole Maria; Bernasconi, Corrado Angelo; Burgunder, Jean-Marc; Krauss, J. K.; Oertel, Markus Florian; Kaelin, Alain; Pollo, Claudio; Schüpbach, Michael (2016). Stimulation of the globus pallidus internus in the treatment of Parkinson`s disease: Long-term results of a monocentric follow-up. Movement disorders, 31(Suppl 2), p. 19. Wiley-Blackwell
Metzger, Silke; Walter, Carolin; Riess, Olaf; Roos, Raymund A. C.; Nielsen, Jørgen E.; Craufurd, David; European Huntington's Disease Network, REGISTRY Investigators of the; Nguyen, Huu Phuc; Burgunder, Jean-Marc; Kaelin, Alain; Schüpbach, Michael (2013). The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients. PLoS ONE, 8(7), e68951. Public Library of Science 10.1371/journal.pone.0068951
Zheng, Zhenzhen; Burgunder, Jean-Marc; Shang, Huifang; Guo, Xiaoyan (2012). Huntington's like conditions in China, A review of published Chinese cases. PLoS currents, 4, RRN1302. Lawrence, Kans.: Public Library of Science
Li, Peng; Huang, Rui; Song, Wei; Ji, Jie; Burgunder, Jean-Marc; Wang, Xing; Zhong, Qi; Kaelin-Lang, Alain; Wang, Wei; Shang, Hui-Fang (2012). Deep brain stimulation of the globus pallidus internal improves symptoms of chorea-acanthocytosis. Neurological sciences, 33(2), pp. 269-74. Milano: Springer 10.1007/s10072-011-0741-y
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
Zhang, Shu-Shan; Chen, Qin; Chen, Xue-Ping; Wang, Jian-Gang; Burgunder, Jean-Marc; Shang, Hui-Fang (2008). Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum. Movement disorders, 23(6), pp. 917-9. Hoboken, N.J.: Wiley-Blackwell 10.1002/mds.21942
Loher, T J; Capelle, H-H; Kaelin-Lang, A; Weber, S; Weigel, R; Burgunder, J M; Krauss, J K (2008). Deep brain stimulation for dystonia: outcome at long-term follow-up. Journal of neurology, 255(6), pp. 881-4. Heidelberg: Springer-Medizin-Verlag 10.1007/s00415-008-0798-6
Petitprez, S; Tiab, L; Chen, Lie; Kappeler, Liliane; Rösler, Kai Michael; Schorderet, D; Abriel, Hugues; Burgunder, Jean-Marc (2008). A novel dominant mutation of the Nav1.4 {alpha}-subunit domain I leading to sodium channel myotonia. Neurology, 71(21), pp. 1669-1675. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1212/01.wnl.0000335168.86248.55
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
Lee, Li-Yen; Ong, Wei-Yi; Farooqui, Akhlaq A; Burgunder, Jean-Marc (2007). Role of calcium-independent phospholipase A2 in cortex striatum thalamus cortex circuitry-enzyme inhibition causes vacuous chewing movements in rats. Psychopharmacology, 195(3), pp. 387-95. Berlin: Springer 10.1007/s00213-007-0912-y
Loher, Thomas J; Gutbrod, Klemens; Fravi, Nina L; Pohle, Thomas; Burgunder, Jean-Marc; Krauss, Joachim K (2003). Thalamic stimulation for tremor. Subtle changes in episodic memory are related to stimulation per se and not to a microthalamotomy effect. Journal of neurology, 250(6), pp. 707-13. Heidelberg: Springer-Medizin-Verlag 10.1007/s00415-003-1067-3
Serrien, Deborah J; Nirkko, Arto C; Loher, Thomas J; Lövblad, Karl-Olof; Burgunder, Jean-Marc; Wiesendanger, Mario (2002). Movement control of manipulative tasks in patients with Gilles de la Tourette syndrome. Brain, 125(Pt 2), pp. 290-300. Oxford: Oxford University Press 10.1093/brain/awf024
Serrien, Deborah J.; Burgunder, Jean-Marc; Wiesendanger, Mario (2002). Control of manipulative forces during unimanual and bimanual tasks in patients with Huntington’s disease. Experimental brain research, 143(3), pp. 328-334. Springer 10.1007/s00221-001-0992-6
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
Dürr, A.; Davoine, C.-S.; Paternotte, C.; Von Fellenberg, J.; Cogilnicean, S.; Coutinho, P.; Lamy, C.; Bourgeois, S.; Prud'Homme, J.-F.; Penet, C.; Mas, J.-L.; Burgunder, J.-M.; Hazan, J.; Weissenbach, J.; Brice, A.; Fontaine, B. (1996). Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2. Brain, 119(5), pp. 1487-1496. Oxford University Press 10.1093/brain/119.5.1487
