Search Results - "Burgunder, Jean‐Marc"

A MDS evidence‐based review on treatments for Huntington's Disease by Ferreira, Joaquim J, Rodrigues, Filipe Brogueira, Duarte, Gonçalo, Mestre, Tiago, 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, Costa, João, Sampaio, Cristina

“…© 2021 International Parkinson and Movement Disorder Society Background: Huntington's disease (HD) is a rare neurodegenerative disorder with protean clinical…”
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International Guidelines for the Treatment of Huntington's Disease by 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

“…The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday…”
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European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases by Aleksovska, Katina, Kobulashvili, Teia, Costa, João, 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, Ayme, Segolene, Pareyson, Davide, Sellner, Johann, Krarup, Christian, Visser, Marianne, Bergh, Peter, Toscano, Antonio, Graessner, Holm, Berger, Thomas, Bassetti, Claudio, Vidailhet, Marie, Trinka, Eugene, Deuschl, Guenther, Federico, Antonio, Leone, Maurizio A.

“…© 2022 European Academy of Neurology Background and purpose: Rare diseases affect up to 29 million people in the European Union, and almost 50% of them affect…”
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Quality of Life in Huntington's Disease: Critique and Recommendations for Measures Assessing Patient Health‐Related Quality of Life and Caregiver Quality of Life by Mestre, Tiago A., Carlozzi, Noelle E., Ho, Aileen K., Burgunder, Jean‐Marc, Walker, Francis, Davis, Aileen M., Busse, Monica, Quinn, Lori, Rodrigues, Filipe B., Sampaio, Cristina, Goetz, Christopher G., Cubo, Esther, Martinez‐Martin, Pablo, Stebbins, Glenn T.

“…ABSTRACT The compromise of quality of life in Huntington's disease is a major issue, both for individuals with the disease as well as for their caregivers. The…”
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Recent progress in the genetics of motor neuron disease by Finsterer, Josef, Burgunder, Jean-Marc

“…Abstract Background Genetic background and pathogenesis of motor neuron diseases (MNDs) have been increasingly elucidated over recent years. Aims To give an…”
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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease? by 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

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Brain alterations with deep brain stimulation: New insight from a neuropathological case series by Kronenbuerger, Martin, Nolte, Kay Wilhelm, Coenen, Volker Arnd, Burgunder, Jean-Marc, Krauss, Joachim K., Weis, Joachim

“…Background Previous studies on human brain tissue alterations caused by deep brain stimulation described glial and reactive inflammatory changes. In the…”
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Development and Evaluation of Maze-Like Puzzle Games to Assess Cognitive and Motor Function in Aging and Neurodegenerative Diseases by Nef, Tobias, Chesham, Alvin, Schütz, Narayan, Botros, Angela Amira, Vanbellingen, Tim, Burgunder, Jean-Marc, Müllner, Julia, Martin Müri, René, Urwyler, Prabitha

“…There is currently a need for engaging, user-friendly, and repeatable tasks for assessment of cognitive and motor function in aging and neurodegenerative…”
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The characteristic and prognostic role of blood inflammatory markers in patients with Huntington's disease from China by 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

“…This study aims to elucidate the role of peripheral inflammation in Huntington's disease (HD) by examining the correlation of peripheral inflammatory markers…”
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Evaluation of Blood Glial Fibrillary Acidic Protein as a Potential Marker in Huntington's Disease by You, Huajing, Wu, Tengteng, Du, Gang, Huang, Yue, Zeng, Yixuan, Lin, Lishan, Chen, Dingbang, Wu, Chao, Li, Xunhua, Burgunder, Jean-marc, Pei, Zhong

“…Objective: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. Neurofilament light protein (NfL) is correlated with clinical…”
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Mechanisms underlying phenotypic variation in neurogenetic disorders by Burgunder, Jean-Marc

“…Neurological diseases associated with pathogenic variants in a specific gene, or even with a specific pathogenic variant, can show profound phenotypic…”
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Symptomatic treatment options for Huntington’s disease (guidelines of the German Neurological Society) by 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

“…Abstract Introduction Ameliorating symptoms and signs of Huntington’s disease (HD) is essential to care but can be challenging and hard to achieve. The…”
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Factors influencing cognitive function in patients with Huntington's disease from China: A cross‐sectional clinical study by 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

“…Abstract Background and aim Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder caused by CAG repeats expansion. Cognitive…”
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Differential diagnosis of chorea (guidelines of the German Neurological Society) by 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

“…Abstract Introduction Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck,…”
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Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy by 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

“…One percent of patients with a Huntington's disease (HD) phenotype do not have the Huntington (HTT) gene mutation. These are known as HD phenocopies. Their…”
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Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study by Tan, Eng-King, Peng, Rong, Teo, Yik-Ying, Tan, Louis C, Angeles, Dario, Ho, Patrick, Chen, Meng-Ling, Lin, Chin-Hsien, Mao, Xue-Ye, Chang, Xue-Li, Prakash, Kumar M, Liu, Jian-Jun, Au, Wing-Lok, Le, Wei-Dong, Jankovic, Joseph, Burgunder, Jean-Marc, Zhao, Yi, Wu, Ruey-Meei

“…We and others found two polymorphic LRRK2 (leucine-rich repeat kinase 2) variants (rs34778348:G>A; p.G2385R and rs33949390:G>C; p.R1628P) associated with…”
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Interrater Reliability of the Unified Huntington's Disease Rating Scale‐Total Motor Score Certification by Winder, Jessica Y., Roos, Raymund A.C., Burgunder, Jean‐Marc, Marinus, Johan, Reilmann, Ralf

“…Background The clinical assessment of motor symptoms in Huntington's disease is usually performed with the Unified Huntington's Disease Rating Scale‐Total…”
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Model-Based Magnetization Transfer Imaging Markers to Characterize Patients and Asymptomatic Gene Carriers in Huntington's Disease by Wiest, Roland, Burgunder, Jean-Marc, Kiefer, Claus

“…Huntington's disease (HD) is a chronic progressive neurodegenerative disorder with a long presymptomatic period that opens a window for potential therapies…”
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Rating Scales and Performance‐based Measures for Assessment of Functional Ability in Huntington's Disease: Critique and Recommendations by Mestre, Tiago A., Busse, Monica, Davis, Aileen M., Quinn, Lori, Rodrigues, Filipe B., Burgunder, Jean‐Marc, Carlozzi, Noelle E., Walker, Francis, Ho, Aileen K., Sampaio, Cristina, Goetz, Christopher G., Cubo, Esther, Martinez‐Martin, Pablo, Stebbins, Glenn T.

“…Limitation of functional ability is a major feature of Huntington's disease (HD). The International Parkinson and Movement Disorder Society (MDS) commissioned…”
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Myotonia congenita-associated mutations in chloride channel-1 affect zebrafish body wave swimming kinematics by Cheng, Wei, Tian, Jing, Burgunder, Jean-Marc, Hunziker, Walter, Eng, How-Lung

“…Myotonia congenita is a human muscle disorder caused by mutations in CLCN1, which encodes human chloride channel 1 (CLCN1). Zebrafish is becoming an…”
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