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Items: 1 to 50 of 226

1.

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.

Orphanet J Rare Dis. 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4.

2.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR).

Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Review.

3.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

4.

Intravenous administration of scAAV9-Hexb normalizes lifespan and prevents pathology in Sandhoff disease mice.

Niemir N, Rouvière L, Besse A, Vanier MT, Dmytrus J, Marais T, Astord S, Puech JP, Panasyuk G, Cooper JD, Barkats M, Caillaud C.

Hum Mol Genet. 2018 Mar 15;27(6):954-968. doi: 10.1093/hmg/ddy012.

PMID:
29325092
5.

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.

World J Biol Psychiatry. 2017 Oct 9:1-10. doi: 10.1080/15622975.2017.1379610. [Epub ahead of print]

PMID:
28914127
6.

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.

Eur J Paediatr Neurol. 2017 Nov;21(6):907-911. doi: 10.1016/j.ejpn.2017.07.015. Epub 2017 Jul 29.

PMID:
28801223
7.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D.

PLoS One. 2017 Jul 27;12(7):e0181700. doi: 10.1371/journal.pone.0181700. eCollection 2017.

8.

Novel NPC1 mutations with different segregation in two related Greek patients with Niemann-Pick type C disease: molecular study in the extended pedigree and clinical correlations.

Bountouvi E, Papadopoulou A, Vanier MT, Nyktari G, Kanellakis S, Michelakakis H, Dinopoulos A.

BMC Med Genet. 2017 May 4;18(1):51. doi: 10.1186/s12881-017-0409-4.

9.

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.

JIMD Rep. 2017;36:41-48. doi: 10.1007/8904_2016_41. Epub 2017 Jan 20.

10.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

Lidove O, Belmatoug N, Froissart R, Lavigne C, Durieu I, Mazodier K, Serratrice C, Douillard C, Goizet C, Cathebras P, Besson G, Amoura Z, Tazi A, Gatfossé M, Rivière S, Sené T, Vanier MT, Ziza JM.

Rev Med Interne. 2017 May;38(5):291-299. doi: 10.1016/j.revmed.2016.10.387. Epub 2016 Nov 22. French.

PMID:
27884455
11.

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA.

Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Review.

12.

Efficacy and ototoxicity of different cyclodextrins in Niemann-Pick C disease.

Davidson CD, Fishman YI, Puskás I, Szemán J, Sohajda T, McCauliff LA, Sikora J, Storch J, Vanier MT, Szente L, Walkley SU, Dobrenis K.

Ann Clin Transl Neurol. 2016 Apr 20;3(5):366-80. doi: 10.1002/acn3.306. eCollection 2016 May.

13.

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.

J Neurol. 2016 May;263(5):927-936. doi: 10.1007/s00415-016-8051-1. Epub 2016 Mar 16.

14.

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.

Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z.

15.

Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.

Vite CH, Bagel JH, Swain GP, Prociuk M, Sikora TU, Stein VM, O'Donnell P, Ruane T, Ward S, Crooks A, Li S, Mauldin E, Stellar S, De Meulder M, Kao ML, Ory DS, Davidson C, Vanier MT, Walkley SU.

Sci Transl Med. 2015 Feb 25;7(276):276ra26. doi: 10.1126/scitranslmed.3010101.

16.

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Vanier MT, Latour P.

Methods Cell Biol. 2015;126:357-75. doi: 10.1016/bs.mcb.2014.10.028. Epub 2015 Jan 14.

PMID:
25665455
17.

Complex lipid trafficking in Niemann-Pick disease type C.

Vanier MT.

J Inherit Metab Dis. 2015 Jan;38(1):187-99. doi: 10.1007/s10545-014-9794-4. Epub 2014 Nov 26. Review.

PMID:
25425283
18.

Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood.

Lidove O, Sedel F, Charlotte F, Froissart R, Vanier MT.

JIMD Rep. 2015;15:117-21. doi: 10.1007/8904_2014_306. Epub 2014 Apr 10.

19.

Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.

Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J.

PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013.

20.

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease.

Anheim M, Lagha-Boukbiza O, Fleury-Lesaunier MC, Valenti-Hirsch MP, Hirsch E, Gervais-Bernard H, Broussolle E, Thobois S, Vanier MT, Latour P, Tranchant C.

J Neurol. 2014 Jan;261(1):174-9. doi: 10.1007/s00415-013-7159-9. Epub 2013 Nov 1.

PMID:
24178705
21.

Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek island.

Mavridou I, Cozar M, Douzgou S, Xaidara A, Lianou D, Vanier MT, Dimitriou E, Grinberg D, Vilageliu L, Michelakakis H.

Clin Genet. 2014 Jun;85(6):543-7. doi: 10.1111/cge.12200. Epub 2013 Jun 12.

PMID:
23701245
22.

Niemann-Pick diseases.

Vanier MT.

Handb Clin Neurol. 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. Review.

PMID:
23622394
23.

Lysosomal diseases: biochemical pathways and investigations.

Vanier MT.

Handb Clin Neurol. 2013;113:1695-9. doi: 10.1016/B978-0-444-59565-2.00037-X. Review.

PMID:
23622390
24.

Disease and patient characteristics in NP-C patients: findings from an international disease registry.

Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M.

Orphanet J Rare Dis. 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. Erratum in: Orphanet J Rare Dis. 2013;8:73.

25.

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B, Fontaine B, Audoin B, Lacour A, Said G, Vanier MT, Sedel F.

J Inherit Metab Dis. 2013 Sep;36(5):859-68. doi: 10.1007/s10545-012-9560-4. Epub 2012 Nov 30.

PMID:
23197103
26.

The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients.

Stirnemann J, Vigan M, Hamroun D, Heraoui D, Rossi-Semerano L, Berger MG, Rose C, Camou F, de Roux-Serratrice C, Grosbois B, Kaminsky P, Robert A, Caillaud C, Froissart R, Levade T, Masseau A, Mignot C, Sedel F, Dobbelaere D, Vanier MT, Valayanopoulos V, Fain O, Fantin B, de Villemeur TB, Mentré F, Belmatoug N.

Orphanet J Rare Dis. 2012 Oct 9;7:77. doi: 10.1186/1750-1172-7-77.

27.

Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.

Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT.

Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36.

28.

Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.

Piguet F, Sondhi D, Piraud M, Fouquet F, Hackett NR, Ahouansou O, Vanier MT, Bieche I, Aubourg P, Crystal RG, Cartier N, Sevin C.

Hum Gene Ther. 2012 Aug;23(8):903-14. doi: 10.1089/hum.2012.015. Epub 2012 Jul 23.

29.

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group.

Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8.

PMID:
22572546
30.

Miglustat improves purkinje cell survival and alters microglial phenotype in feline Niemann-Pick disease type C.

Stein VM, Crooks A, Ding W, Prociuk M, O'Donnell P, Bryan C, Sikora T, Dingemanse J, Vanier MT, Walkley SU, Vite CH.

J Neuropathol Exp Neurol. 2012 May;71(5):434-48. doi: 10.1097/NEN.0b013e31825414a6.

31.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Maue RA, Burgess RW, Wang B, Wooley CM, Seburn KL, Vanier MT, Rogers MA, Chang CC, Chang TY, Harris BT, Graber DJ, Penatti CA, Porter DM, Szwergold BS, Henderson LP, Totenhagen JW, Trouard TP, Borbon IA, Erickson RP.

Hum Mol Genet. 2012 Feb 15;21(4):730-50. doi: 10.1093/hmg/ddr505. Epub 2011 Nov 2.

32.

Endosomal/lysosomal processing of gangliosides affects neuronal cholesterol sequestration in Niemann-Pick disease type C.

Zhou S, Davidson C, McGlynn R, Stephney G, Dobrenis K, Vanier MT, Walkley SU.

Am J Pathol. 2011 Aug;179(2):890-902. doi: 10.1016/j.ajpath.2011.04.017. Epub 2011 Jun 2.

33.

Macrophages counteract demyelination in a mouse model of globoid cell leukodystrophy.

Kondo Y, Adams JM, Vanier MT, Duncan ID.

J Neurosci. 2011 Mar 9;31(10):3610-24. doi: 10.1523/JNEUROSCI.6344-10.2011.

34.

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease.

Malinowska M, Wilkinson FL, Langford-Smith KJ, Langford-Smith A, Brown JR, Crawford BE, Vanier MT, Grynkiewicz G, Wynn RF, Wraith JE, Wegrzyn G, Bigger BW.

PLoS One. 2010 Dec 1;5(12):e14192. doi: 10.1371/journal.pone.0014192.

35.

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

Ellinwood NM, Ausseil J, Desmaris N, Bigou S, Liu S, Jens JK, Snella EM, Mohammed EE, Thomson CB, Raoul S, Joussemet B, Roux F, Chérel Y, Lajat Y, Piraud M, Benchaouir R, Hermening S, Petry H, Froissart R, Tardieu M, Ciron C, Moullier P, Parkes J, Kline KL, Maire I, Vanier MT, Heard JM, Colle MA.

Mol Ther. 2011 Feb;19(2):251-9. doi: 10.1038/mt.2010.265. Epub 2010 Dec 7.

36.

[Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis].

Vanier MT.

Arch Pediatr. 2010 Jun;17 Suppl 2:S41-4. doi: 10.1016/S0929-693X(10)70010-5. Review. French.

PMID:
20620894
37.

Niemann-Pick disease type C.

Vanier MT.

Orphanet J Rare Dis. 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. Review.

38.

Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

Vaccaro AM, Motta M, Tatti M, Scarpa S, Masuelli L, Bhat M, Vanier MT, Tylki-Szymanska A, Salvioli R.

Hum Mol Genet. 2010 Aug 1;19(15):2987-97. doi: 10.1093/hmg/ddq204. Epub 2010 May 19.

PMID:
20484222
39.

Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression.

Davidson CD, Ali NF, Micsenyi MC, Stephney G, Renault S, Dobrenis K, Ory DS, Vanier MT, Walkley SU.

PLoS One. 2009 Sep 11;4(9):e6951. doi: 10.1371/journal.pone.0006951.

40.

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

NP-C Guidelines Working Group, Wraith JE, Baumgartner MR, Bembi B, Covanis A, Levade T, Mengel E, Pineda M, Sedel F, Topçu M, Vanier MT, Widner H, Wijburg FA, Patterson MC.

Mol Genet Metab. 2009 Sep-Oct;98(1-2):152-65. doi: 10.1016/j.ymgme.2009.06.008. Epub 2009 Jun 14.

PMID:
19647672
41.

An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.

Tinsa F, Caillaud C, Vanier MT, Bousnina D, Boussetta K, Bousnina S.

J Child Neurol. 2010 Jan;25(1):82-6. doi: 10.1177/0883073809334382. Epub 2009 Jul 2.

PMID:
19574581
42.

Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options.

Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Höglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK; Reisensburg Working Group for Tauopathies With Parkinsonism.

Eur J Neurol. 2009 Mar;16(3):297-309. doi: 10.1111/j.1468-1331.2008.02513.x. Review.

43.

Expression and localisation of insulin receptor substrate 2 in normal intestine and colorectal tumours. Regulation by intestine-specific transcription factor CDX2.

Modica S, Morgano A, Salvatore L, Petruzzelli M, Vanier MT, Valanzano R, Esposito DL, Palasciano G, Duluc I, Freund JN, Mariani-Costantini R, Moschetta A.

Gut. 2009 Sep;58(9):1250-9. doi: 10.1136/gut.2008.158386. Epub 2009 Feb 15.

PMID:
19221108
44.

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA.

Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19.

45.

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

Micsenyi MC, Dobrenis K, Stephney G, Pickel J, Vanier MT, Slaugenhaupt SA, Walkley SU.

J Neuropathol Exp Neurol. 2009 Feb;68(2):125-35. doi: 10.1097/NEN.0b013e3181942cf0.

46.

Secondary lipid accumulation in lysosomal disease.

Walkley SU, Vanier MT.

Biochim Biophys Acta. 2009 Apr;1793(4):726-36. doi: 10.1016/j.bbamcr.2008.11.014. Epub 2008 Dec 9. Review.

47.

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: follow up using brain spectroscopy.

Galanaud D, Tourbah A, Lehéricy S, Leveque N, Heron B, Billette de Villemeur T, Guffon N, Feillet F, Baumann N, Vanier MT, Sedel F.

Mol Genet Metab. 2009 Feb;96(2):55-8. doi: 10.1016/j.ymgme.2008.10.002. Epub 2008 Nov 13.

PMID:
19013089
48.

Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.

Bjurulf B, Spetalen S, Erichsen A, Vanier MT, Strøm EH, Strømme P.

Med Sci Monit. 2008 Aug;14(8):CS71-5.

PMID:
18668002
49.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF.

Pediatrics. 2008 Aug;122(2):e341-9. doi: 10.1542/peds.2007-3016. Epub 2008 Jul 14.

50.

Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.

Ausseil J, Desmaris N, Bigou S, Attali R, Corbineau S, Vitry S, Parent M, Cheillan D, Fuller M, Maire I, Vanier MT, Heard JM.

PLoS One. 2008 May 28;3(5):e2296. doi: 10.1371/journal.pone.0002296.

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