Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

My NCBI Filters
Text availability
Article attribute
Article type
Publication date

Search Results

229 results
Filters applied: . Clear all Results are displayed in a computed author sort order. Results by year timeline is unavailable
Page 1
Complex lipid trafficking in Niemann-Pick disease type C.
Vanier MT. Vanier MT. J Inherit Metab Dis. 2015 Jan;38(1):187-99. doi: 10.1007/s10545-014-9794-4. Epub 2014 Nov 26. J Inherit Metab Dis. 2015. PMID: 25425283 Review.
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing.
Vanier MT, Rodriguez-Lafrasse C, Rousson R, Gazzah N, Juge MC, Pentchev PG, Revol A, Louisot P. Vanier MT, et al. Biochim Biophys Acta. 1991 Jun 5;1096(4):328-37. doi: 10.1016/0925-4439(91)90069-l. Biochim Biophys Acta. 1991. PMID: 2065104
Abnormal cholesterol metabolism in imipramine-treated fibroblast cultures. Similarities with Niemann-Pick type C disease.
Rodriguez-Lafrasse C, Rousson R, Bonnet J, Pentchev PG, Louisot P, Vanier MT. Rodriguez-Lafrasse C, et al. Biochim Biophys Acta. 1990 Apr 2;1043(2):123-8. doi: 10.1016/0005-2760(90)90284-5. Biochim Biophys Acta. 1990. PMID: 2317521
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type.
Mercati O, Pichard S, Ouachée M, Froissart R, Fenneteau O, Roche B, Elmaleh-Bergès M, Bertrand Y, Ogier de Baulny H, Vanier MT, Schiff M. Mercati O, et al. Among authors: vanier mt. Eur J Paediatr Neurol. 2017 Nov;21(6):907-911. doi: 10.1016/j.ejpn.2017.07.015. Epub 2017 Jul 29. Eur J Paediatr Neurol. 2017. PMID: 28801223
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B. Nadjar Y, et al. Among authors: vanier mt. Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. Orphanet J Rare Dis. 2018. PMID: 30285904 Free PMC article.
Normalisation of brain spectroscopy findings in Niemann-Pick disease type C patients treated with miglustat.
Sedel F, Chabrol B, Audoin B, Kaphan E, Tranchant C, Burzykowski T, Tourbah A, Vanier MT, Galanaud D. Sedel F, et al. J Neurol. 2016 May;263(5):927-936. doi: 10.1007/s00415-016-8051-1. Epub 2016 Mar 16. J Neurol. 2016. PMID: 26984608 Free PMC article. Clinical Trial.
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study.
Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Patterson MC, et al. Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z. Orphanet J Rare Dis. 2015. PMID: 26017010 Free PMC article.
The Spectrum of Niemann-Pick Type C Disease in Greece.
Mavridou I, Dimitriou E, Vanier MT, Vilageliu L, Grinberg D, Latour P, Xaidara A, Lycopoulou L, Bostantjopoulou S, Zafeiriou D, Michelakakis H. Mavridou I, et al. JIMD Rep. 2017;36:41-48. doi: 10.1007/8904_2016_41. Epub 2017 Jan 20. JIMD Rep. 2017. PMID: 28105569 Free PMC article.
Psychiatric and neurological symptoms in patients with Niemann-Pick disease type C (NP-C): Findings from the International NPC Registry.
Bonnot O, Gama CS, Mengel E, Pineda M, Vanier MT, Watson L, Watissée M, Schwierin B, Patterson MC. Bonnot O, et al. Among authors: vanier mt. World J Biol Psychiatry. 2019 Apr;20(4):310-319. doi: 10.1080/15622975.2017.1379610. Epub 2017 Oct 9. World J Biol Psychiatry. 2019. PMID: 28914127 Clinical Trial.
229 results
Jump to page
Feedback