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Trappsol® CycloTM (hpβCd) for the long-term treatment of Niemann Pick type C1: Efficacy and safety data from 4 clinical studies and the ongoing expanded access program Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Martin-Hernandez, Elena; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Trappsol®CycloTM and NPC: Efficacy shown across individual 5D domains and utilization of future assessment tools to demonstrate clinically relevant outcomes Hastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Mohand, Patricia Perez; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis 神经黑色素-皮克病（Niemann-Pick disease Type C）神经病理发生中脉络丛的参与意义 van Gool, Raquel; Cay, Mariesa; Ren, Boyu; Brodeur, Kailey; Golden, Emma; Goodlett, Benjamin; Yang, Edward; Reilly, Tom; Hastings, Caroline; Berry-Kravis, Elizabeth M.; Lee, Pui Y.; Di Biase, Maria; Cropley, Vanessa; Pantelis, Christos; Velakoulis, Dennis; Shinn, Ann K.; Al-Hertani, Walla; Walterfang, Mark; Upadhyay, Jaymin 分享 收藏
Blood biomarker profiles in young-onset neurocognitive disorders: A cohort study Bhalala, Oneil G.; Beamish, Jessica; Eratne, Dhamidhu; Summerell, Patrick; Porter, Tenielle; Laws, Simon M.; Kang, Matthew J. Y.; Huq, Aamira J.; Chiu, Wei-Hsuan; Cadwallader, Claire; Walterfang, Mark; Farrand, Sarah; Evans, Andrew H.; Kelso, Wendy; Churilov, Leonid; Watson, Rosie; Yassi, Nawaf; Velakoulis, Dennis; Loi, Samantha M. 分享 收藏
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Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting 在临床环境中，血浆和CSF神经丝轻链可区分神经退行性病变和原发性精神病 Eratne, Dhamidhu; Kang, Matthew J. Y.; Lewis, Courtney; Dang, Christa; Malpas, Charles B.; Keem, Michael; Grewal, Jasleen; Marinov, Vladimir; Coe, Amy; Kaylor-Hughes, Cath; Borchard, Thomas; Keng-Hong, Chhoa; Waxmann, Alexandra; Saglam, Burcu; Kalincik, Tomas; Kanaan, Richard; Kelso, Wendy; Evans, Andrew; Farrand, Sarah; Loi, Samantha; Walterfang, Mark; Stehmann, Christiane; Li, Qiao-Xin; Collins, Steven; Masters, Colin L.; Santillo, Alexander F.; Zetterberg, Henrik; Blennow, Kaj; Berkovic, Samuel F.; Velakoulis, Dennis 分享 收藏
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency Latzer, Itay Tokatly; Bertoldi, Mariarita; Blau, Nenad; DiBacco, Melissa L.; Elsea, Sarah H.; Garcia-Cazorla, Angels; Gibson, K. Michael; Gropman, Andrea L.; Hanson, Ellen; Hoffman, Carolyn; Jeltsch, Kathrin; Julia-Palacios, Natalia; Knerr, Ina; Lee, Henry H. C.; Malaspina, Patrizia; McConnell, Alice; Opladen, Thomas; Oppeboen, Mari; Rotenberg, Alexander; Walterfang, Mark; Wang-Tso, Lee; Wevers, Ron A.; Roullet, Jean-Baptiste; Pearl, Phillip L. 分享 收藏
Plasma neurofilament light chain is increased in Niemann-Pick Type C but glial fibrillary acidic protein remains normal 血浆神经丝轻链在Niemann-Pick Type C中升高，但胶质纤维酸性蛋白保持正常。 Eratne, Dhamidhu; Lewis, Courtney; Kelso, Wendy; Loi, Samantha; Chiu, Wei-Hsuan Michelle; Blennow, Kaj; Zetterberg, Henrik; Santillo, Alexander F.; Velakoulis, Dennis; Walterfang, Mark 分享 收藏
Trial of N-Acetyl-L-Leucine in Niemann-Pick Disease Type C Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Foltan, Tomas; Gautschi, Matthias; Gissen, Paul; Gowing, Francesca; Hahn, Andreas; Jones, Simon; Kay, Richard; Kolnikova, Miriam; Arash-Kaps, Laila; Marquardt, Thorsten; Mengel, Eugen; Park, Julien H.; Reichmannova, Stella; Schneider, Susanne A.; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos 分享 收藏
Transport®NPC: open phase 3 global trial of intravenous hydroxypropyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1) Hastings, Caroline A.; Goker-Alpan, Ozlem; Pena, Loren; Bayarri, Jordi Gascon; Martin-Hernandez, Elena; Sharma, Reena; Chacham, Orna Staretz; Spiegel, Ronen; Mengel, Eugen; Walterfang, Mark; Peters, Heidi; Fung, Victor S.; Kiec-Wilk, Beata; Smith, Nicholas; Giugliani, Roberto; Guelbert, Norberto; Ezgu, Fatih; Ucar, Sema Kalkan; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph 分享 收藏
Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C Fields, Taylor; Bremova-Ertl, Tatiana; Ramaswami, Uma; Brands, Marion; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Kolnikova, Miriam; Arash-Karps, Laila; Mengel, Eugen; Park, Julien; Reichmannova, Stella; Schneider, Susanne; Sivananthan, Siyamini; Walterfang, Mark; Wibawa, Pierre; Strupp, Michael; Martakis, Kyriakos 分享 收藏
Plasma neurofilament light in behavioural variant frontotemporal dementia compared to mood and psychotic disorders 与情绪和精神病性障碍相比，行为变异额颞叶痴呆中的血浆神经丝光 Eratne, Dhamidhu; Kang, Matthew; Malpas, Charles; Simpson-Yap, Steve; Lewis, Courtney; Dang, Christa; Grewal, Jasleen; Coe, Amy; Dobson, Hannah; Keem, Michael; Chiu, Wei-Hsuan; Kalincik, Tomas; Ooi, Suyi; Darby, David; Brodtmann, Amy; Hansson, Oskar; Janelidze, Shorena; Blennow, Kaj; Zetterberg, Henrik; Walker, Adam; Dean, Olivia; Berk, Michael; Wannan, Cassandra; Pantelis, Christos; Loi, Samantha M.; Walterfang, Mark; Berkovic, Samuel F.; Santillo, Alexander F.; Velakoulis, Dennis 分享 收藏
Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study Ravanfar, P.; Syeda, W. T.; Rushmore, R. J.; Moffat, B.; Lyall, A. E.; Merritt, A. H.; Devenyi, G. A.; Chakravarty, M. M.; Desmond, P.; Cropley, V. L.; Makris, N.; Shenton, M. E.; Bush, A. I.; Velakoulis, D.; Pantelis, C.; Walterfang, M. 分享 收藏
Survival in Huntington's disease and other young-onset dementias Loi, Samantha M.; Tsoukra, Paraskevi; Sun, Emily; Chen, Zhibin; Wibawa, Pierre; di Biase, Maria; Farrand, Sarah; Eratne, Dhamidhu; Kelso, Wendy; Evans, Andrew; Walterfang, Mark; Velakoulis, Dennis 分享 收藏
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Structural and microstructural thalamocortical network disruption in sporadic behavioural variant frontotemporal dementia 散发性行为变异型额颞叶痴呆的结构和微观结构丘脑皮质网络破坏 Jakabek, David; Power, Brian D.; Spotorno, Nicola; Macfarlane, Matthew D.; Walterfang, Mark; Velakoulis, Dennis; Nilsson, Christer; Waldo, Maria Landqvist; Latt, Jimmy; Nilsson, Markus; van Westen, Danielle; Lindberg, Olof; Looi, Jeffrey C. L.; Santillo, Alexander F. 分享 收藏
Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressors 脑脊液神经丝轻链区分行为变异额颞叶痴呆进展者与非进展者 Eratne, Dhamidhu; Keem, Michael; Lewis, Courtney; Kang, Matthew; Walterfang, Mark; Farrand, Sarah; Loi, Samantha; Kelso, Wendy; Cadwallader, Claire; Berkovic, Samuel F.; Li, Qiao-Xin; Masters, Colin L.; Collins, Steven; Santillo, Alexander; Velakoulis, Dennis 分享 收藏
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