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Nature, ISSN 0028-0836, 11/2016, Volume 539, Issue 7628, pp. 294 - 298
Journal Article
The Lancet, ISSN 0140-6736, 10/2017, Volume 390, Issue 10104, pp. 1758 - 1768
Niemann-Pick disease, type C1 (NPC1) is a lysosomal storage disorder characterised by progressive neurodegeneration. In preclinical testing,... 
MIGLUSTAT THERAPY | STORAGE | MEDICINE, GENERAL & INTERNAL | HEPATOCELLULAR-CARCINOMA | CHOLESTEROL | BIOMARKER | CYCLODEXTRIN | CALBINDIN-D | PATIENT | BRAIN | CHILDREN | Injections, Spinal | Niemann-Pick Disease, Type C - drug therapy | 2-Hydroxypropyl-beta-cyclodextrin - adverse effects | Humans | Rare Diseases - drug therapy | Hearing Loss, High-Frequency - chemically induced | Child, Preschool | Niemann-Pick Disease, Type C - cerebrospinal fluid | Fatty Acid Binding Protein 3 - cerebrospinal fluid | Male | Biomarkers - blood | Hydroxycholesterols - cerebrospinal fluid | 2-Hydroxypropyl-beta-cyclodextrin - administration & dosage | Disease Progression | Dose-Response Relationship, Drug | Young Adult | Adolescent | Calbindins - cerebrospinal fluid | Female | Hydroxycholesterols - blood | Biomarkers - cerebrospinal fluid | Niemann-Pick Disease, Type C - blood | Child | Niemann-Pick disease | Medical research | Genetic disorders | Research & development--R&D | Clinical trials | Patients | Cholesterol | Studies | Cyclodextrin | Neurodegeneration | Biomarkers | Drug therapy | Drug dosages | Cerebellum | Slopes | Regulatory agencies | Animal models | Medical services | Childrens health | Hepatocellular carcinoma | Cognition | Cyclodextrins | Cerebrospinal fluid | Dosage | Proteins | Randomization | Npc1 protein | Bioindicators | Safety | Age | Health | FDA approval | Hearing loss | Domains | Medical centres | Life span | Hearing aids | Mastoiditis | Ototoxicity
Journal Article
American Journal of Gastroenterology, ISSN 0002-9270, 10/2015, Volume 110, pp. S488 - S489
Journal Article
Journal of Neuroscience, ISSN 0270-6474, 07/2016, Volume 36, Issue 28, pp. 7441 - 7452
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2014, Volume 124, Issue 3, pp. 1320 - 1328
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 07/2011, Volume 52, Issue 7, pp. 1435 - 1445
Journal Article
Journal Article
by Zheng, Siyuan and Cherniack, Andrew D and Cherniack, Andrew D and Dewal, Ninad and Moffitt, Richard A and Moffitt, Richard A and Danilova, Ludmila and Murray, Bradley A and Murray, Bradley A and Lerario, Antonio M and Lerario, Antonio M and Else, Tobias and Knijnenburg, Theo A and Knijnenburg, Theo A and Ciriello, Giovanni and Kim, Hoon and Kim, Jaegil and Kim, Seungchan and Assie, Guillaume and Morozova, Olena and Akbani, Rehan and Shih, Juliann and Hoadley, Katherine A and Hoadley, Katherine A and Choueiri, Toni K and Choueiri, Toni K and Waldmann, Jens and Mete, Ozgur and Robertson, A. Gordon and Robertson, A. Gordon and Wu, Hsin-Ta and Wu, Ye and Wu, Junyuan and Wu, Hsin-Tu and Raphael, Benjamin J and Raphael, Benjamin J and Shao, Lina and Meyerson, Matthew and Demeure, Michael J and Demeure, Michael J and Beuschlein, Felix and Gill, Anthony J and Gill, Anthony J and Sidhu, Stan B and Sidhu, Stan B and Almeida, Madson Q and Almeida, Madson and Fragoso, Maria C.B.V and Cope, Leslie M and Cope, Leslie M and Kebebew, Electron and Habra, Mouhammed Amir and Habra, Mouhammed A and Whitsett, Timothy G and Whitsett, Timothy G and Bussey, Kimberly J and Bussey, Kimberly J and Rainey, William E and Rainey, William E and Asa, Sylvia L and Asa, Sylvia L and Bertherat, Jérôme and Fassnacht, Martin and Wheeler, David A and Wheeler, David A and Verhaak, Roel G.W and Verhaak, Roel G.W and Giordano, Thomas J and Giordano, Thomas J and Hammer, Gary D and Hammer, Gary D and Assié, Guillaume and Barisson Fragoso, Maria Candida and Benz, Christopher and Ally, Adrian and Balasundaram, Miruna and Bowlby, Reanne and Brooks, Denise and Butterfield, Yaron S.N and Carlsen, Rebecca and Dhalla, Noreen and Guin, Ranabir and Holt, Robert A and Jones, Corbin D and Jones, Steven J.M and Kasaian, Katayoon and Lee, Sandy and Lee, Darlene and Li, Haiyan I and Lim, Lynette and Ma, Yussanne and Marra, Marco A and Mayo, Michael and Moore, Richard A and Mungall, Karen and Mungall, Andrew J and Sadeghi, Sara and Schein, Jacqueline E and Sipahimalani, Payal and Tam, Angela and ... and Cancer Genome Atlas Research Network
Cancer Cell, ISSN 1535-6108, 05/2016, Volume 29, Issue 5, pp. 723 - 736
Journal Article
Gene therapy, ISSN 0969-7128, 01/2020
The GM2-gangliosidoses are neurological diseases causing premature death, thus developing effective treatment protocols is urgent. GM2-gangliosidoses result... 
Journal Article
ChemBioChem, ISSN 1439-4227, 11/2012, Volume 13, Issue 17, pp. 2549 - 2557
Journal Article
Journal Article