These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
153 related articles for article (PubMed ID: 35452076)
1. Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann-Pick disease, type C1. Yerger J; Cougnoux AC; Abbott CB; Luke R; Clark TS; Cawley NX; Porter FD; Davidson CD Biol Open; 2022 Apr; 11(4):. PubMed ID: 35452076 [TBL] [Abstract][Full Text] [Related]
2. Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-β-Cyclodextrin. Berry-Kravis E; Chin J; Hoffmann A; Winston A; Stoner R; LaGorio L; Friedmann K; Hernandez M; Ory DS; Porter FD; O'Keefe JA Pediatr Neurol; 2018 Mar; 80():24-34. PubMed ID: 29429782 [TBL] [Abstract][Full Text] [Related]
3. [Adult onset Niemann-Pick type C disease and psychosis: literature review]. Maubert A; Hanon C; Metton JP Encephale; 2013 Oct; 39(5):315-9. PubMed ID: 23928063 [TBL] [Abstract][Full Text] [Related]
4. [Niemann-Pick type C disease and psychosis: Two siblings]. Maubert A; Hanon C; Metton JP Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906 [TBL] [Abstract][Full Text] [Related]
5. N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study. Fields T; M Bremova T; Billington I; Churchill GC; Evans W; Fields C; Galione A; Kay R; Mathieson T; Martakis K; Patterson M; Platt F; Factor M; Strupp M Trials; 2023 May; 24(1):361. PubMed ID: 37248494 [TBL] [Abstract][Full Text] [Related]
6. Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. Cawley NX; Giddens S; Farhat NM; Luke RA; Scott KEJ; Mohamed HO; Dang Do A; Berry-Kravis E; Cologna SM; Liu F; Porter FD Mol Genet Metab; 2023 Nov; 140(3):107656. PubMed ID: 37517328 [TBL] [Abstract][Full Text] [Related]
7. Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1. Cougnoux A; Yerger JC; Fellmeth M; Serra-Vinardell J; Navid F; Wassif CA; Cawley NX; Porter FD Mol Genet Metab; 2021 Dec; 134(4):330-336. PubMed ID: 34802899 [TBL] [Abstract][Full Text] [Related]
8. Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. Agrawal N; Farhat NY; Sinaii N; Do AD; Xiao C; Berry-Kravis E; Bianconi S; Masvekar R; Bielekova B; Solomon B; Porter FD Genet Med; 2023 Mar; 25(3):100349. PubMed ID: 36470574 [TBL] [Abstract][Full Text] [Related]
9. Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for Tseng WC; Loeb HE; Pei W; Tsai-Morris CH; Xu L; Cluzeau CV; Wassif CA; Feldman B; Burgess SM; Pavan WJ; Porter FD Dis Model Mech; 2018 Aug; 11(9):. PubMed ID: 30135069 [TBL] [Abstract][Full Text] [Related]
10. Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin. Cougnoux A; Clifford S; Salman A; Ng SL; Bertin J; Porter FD Mol Genet Metab; 2018 Dec; 125(4):345-350. PubMed ID: 30392741 [TBL] [Abstract][Full Text] [Related]
11. A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1. Prabhu AV; Kang I; De Pace R; Wassif CA; Fujiwara H; Kell P; Jiang X; Ory DS; Bonifacino JS; Ward ME; Porter FD BMC Biol; 2021 Oct; 19(1):218. PubMed ID: 34592985 [TBL] [Abstract][Full Text] [Related]
12. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Fields T; Patterson M; Bremova-Ertl T; Belcher G; Billington I; Churchill GC; Davis W; Evans W; Flint S; Galione A; Granzer U; Greenfield J; Karl R; Kay R; Lewi D; Mathieson T; Meyer T; Pangonis D; Platt FM; Tsang L; Verburg C; Factor M; Strupp M Trials; 2021 Jan; 22(1):84. PubMed ID: 33482890 [TBL] [Abstract][Full Text] [Related]
13. Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling. Fan M; Sidhu R; Fujiwara H; Tortelli B; Zhang J; Davidson C; Walkley SU; Bagel JH; Vite C; Yanjanin NM; Porter FD; Schaffer JE; Ory DS J Lipid Res; 2013 Oct; 54(10):2800-14. PubMed ID: 23881911 [TBL] [Abstract][Full Text] [Related]
14. In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin. Marshall CA; Watkins-Chow DE; Palladino G; Deutsch G; Chandran K; Pavan WJ; Erickson RP Gene; 2018 Feb; 643():117-123. PubMed ID: 29223359 [TBL] [Abstract][Full Text] [Related]
15. The natural history of cerebellar degeneration of Niemann-Pick C mice monitored in vitro. Marschalek N; Albert F; Meske V; Ohm TG Neuropathol Appl Neurobiol; 2014 Dec; 40(7):933-45. PubMed ID: 24889722 [TBL] [Abstract][Full Text] [Related]
16. Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific manner. Cougnoux A; Fellmeth M; Gu T; Davidson CD; Gibson AL; Pavan WJ; Porter FD Mol Genet Metab; 2020 Feb; 129(2):165-170. PubMed ID: 31668555 [TBL] [Abstract][Full Text] [Related]
17. In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-β-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C. Yasmin N; Ishitsuka Y; Fukaura M; Yamada Y; Nakahara S; Ishii A; Kondo Y; Takeo T; Nakagata N; Motoyama K; Higashi T; Okada Y; Nishikawa J; Ichikawa A; Iohara D; Hirayama F; Higaki K; Ohno K; Matsuo M; Irie T Int J Mol Sci; 2019 Mar; 20(5):. PubMed ID: 30845767 [TBL] [Abstract][Full Text] [Related]
18. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report. Cuisset JM; Sukno S; Trauffler A; Latour P; Dobbelaere D; Michaud L; Vallée L J Med Case Rep; 2016 Sep; 10(1):241. PubMed ID: 27599728 [TBL] [Abstract][Full Text] [Related]
19. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. Sidhu R; Kell P; Dietzen DJ; Farhat NY; Do AND; Porter FD; Berry-Kravis E; Reunert J; Marquardt T; Giugliani R; Lourenço CM; Wang RY; Movsesyan N; Plummer E; Schaffer JE; Ory DS; Jiang X Mol Genet Metab; 2020 Dec; 131(4):405-417. PubMed ID: 33257258 [TBL] [Abstract][Full Text] [Related]
20. Niemann-Pick Disease Type C: Induced Pluripotent Stem Cell-Derived Neuronal Cells for Modeling Neural Disease and Evaluating Drug Efficacy. Yu D; Swaroop M; Wang M; Baxa U; Yang R; Yan Y; Coksaygan T; DeTolla L; Marugan JJ; Austin CP; McKew JC; Gong DW; Zheng W J Biomol Screen; 2014 Sep; 19(8):1164-73. PubMed ID: 24907126 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]