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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
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181700
Journal Article
Science Translational Medicine, ISSN 1946-6234, 02/2015, Volume 7, Issue 276, pp. 276ra26 - 276ra26
Journal Article
Science Translational Medicine, ISSN 1946-6234, 02/2016, Volume 8, Issue 326, pp. 326ra23 - 326ra23
Histone deacetylase inhibitors (HDACi) are approved for treating rare cancers and are of interest as potential therapies for neurodegenerative disorders. We... 
MEDICINE, RESEARCH & EXPERIMENTAL | MIGLUSTAT | TRANSPORT | SUBEROYLANILIDE HYDROXAMIC ACID | CHOLESTEROL ACCUMULATION | CYCLODEXTRIN | PURIFIED NPC1 PROTEIN | EVERY ORGAN | HISTONE DEACETYLASE INHIBITORS | BINDING | GAUCHER-DISEASE | CELL BIOLOGY | 2-Hydroxypropyl-beta-cyclodextrin | Inflammation - pathology | Niemann-Pick Disease, Type C - drug therapy | Liver - pathology | Histone Deacetylase Inhibitors - administration & dosage | Polyethylene Glycols - chemistry | Spleen - drug effects | RNA, Messenger - metabolism | Histone Deacetylase Inhibitors - blood | Niemann-Pick Disease, Type C - pathology | Inflammation - blood | Inflammation - complications | Liver - drug effects | Hydroxamic Acids - administration & dosage | Niemann-Pick Disease, Type C - blood | Purkinje Cells - drug effects | Spleen - pathology | Disease Models, Animal | Fibroblasts - metabolism | Hydroxamic Acids - blood | Purkinje Cells - metabolism | RNA, Messenger - genetics | Mutation - genetics | Blood-Brain Barrier - drug effects | Nerve Degeneration - complications | Disease Progression | Nerve Degeneration - pathology | Blood-Brain Barrier - metabolism | Blood-Brain Barrier - pathology | Animals | Nerve Degeneration - blood | beta-Cyclodextrins - chemistry | Fibroblasts - drug effects | Survival Analysis | Hydroxamic Acids - therapeutic use | Histone Deacetylase Inhibitors - therapeutic use | Mice | Niemann-Pick Disease, Type C - complications | Purkinje Cells - pathology | Nerve Degeneration - drug therapy
Journal Article
Journal Article
Journal of Lipid Research, ISSN 0022-2275, 10/2013, Volume 54, Issue 10, pp. 2800 - 2814
Journal Article
Journal Article
Journal Article