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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 of Clinical Investigation, ISSN 0021-9738, 07/2018, Volume 128, Issue 7, pp. 3041 - 3052
Journal Article
Current opinion in pediatrics, ISSN 1040-8703, 08/2019, Volume 31, Issue 6, pp. 756 - 762
Acute central nervous system (CNS) infections in children result in significant mortality and neurologic morbidity worldwide. This article summarizes the... 
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2016, Volume 18, Issue 6, pp. 608 - 617
Journal Article
Nature Medicine, ISSN 1078-8956, 11/2019, Volume 25, Issue 11, pp. 1748 - 1752
Since 2012, the United States of America has experienced a biennial spike in pediatric acute flaccid myelitis (AFM)1–6. Epidemiologic evidence suggests... 
Myelitis | Enteroviruses | Care and treatment | Nervous system diseases | Research | Enrichment | VP1 protein | Pediatrics | Peptides | Phages | Antibodies | Serology | Cerebrospinal fluid | Ribonucleic acid--RNA | Epidemiology | Disease control | Gene sequencing | Neurological diseases | Vertebrates | Phage display | Next-generation sequencing | Etiology | Poliomyelitis
Journal Article
Nature reviews. Neurology, ISSN 1759-4758, 12/2018, Volume 14, Issue 12, pp. 749 - 749
In the original version of this Review published online and in print, the contribution of attendees of the International Neuroimmune Meeting to the content of... 
Neurosciences
Journal Article
Clinical Infectious Diseases, ISSN 1058-4838, 10/2013, Volume 57, Issue 8, pp. 1114 - 1128
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3231 - 3237
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance... 
rare disorders | Joubert syndrome | INPP5E | molar‐tooth sign | ciliopathy | molar-tooth sign | INPP5E MUTATIONS | AUTOPHAGOSOME-LYSOSOME FUSION | CILIOPATHIES | DISEASE | GENETICS & HEREDITY | DISORDERS | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Humans | Kidney Diseases, Cystic - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Young Adult | Ciliopathies - genetics | Cerebellum - diagnostic imaging | Kidney Diseases, Cystic - genetics | Female | Abnormalities, Multiple - genetics | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Fibroblasts - pathology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Homozygote | Magnetic Resonance Imaging | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Pedigree | Adolescent | Retina - abnormalities | Mutation | Retina - pathology | Ciliopathies - pathology | Medicine, Experimental | Medical research | Inositol | Phosphatases | RNA | Analysis | Cerebellum | Brain | Brain stem | Congenital defects | Teeth | Cognitive ability | Inositol polyphosphate | Retina | mRNA | Neurodevelopmental disorders | Sleep disorders | Apnea | Magnetic resonance imaging | Polydactyly | Fibroblasts | Retinal degeneration | Hindbrain | Ataxia | Dystrophy | Inositol-1,4,5-trisphosphate 5-phosphatase | Cilia
Journal Article
JAMA Neurology, ISSN 2168-6149, 08/2018, Volume 75, Issue 8, pp. 947 - 955
IMPORTANCE Identifying infectious causes of subacute or chronic meningitis can be challenging Enhanced, unbiased diagnostic approaches are needed. OBJECTIVE To... 
CANDIDA-DUBLINIENSIS | DIAGNOSIS | ENCEPHALITIS | CLINICAL NEUROLOGY | Online First | Original Investigation | Research
Journal Article
Genetics in Medicine, ISSN 1098-3600, 10/2014, Volume 16, Issue 10, pp. 741 - 750
Journal Article