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Items: 1 to 50 of 278

1.

Pharmacists practising in family medicine groups: What are their activities and needs?

Guénette L, Maheu A, Vanier MC, Dugré N, Rouleau L, Lalonde L.

J Clin Pharm Ther. 2019 Aug 22. doi: 10.1111/jcpt.13035. [Epub ahead of print]

PMID:
31436893
2.

The Creation of a Practice-Based Network of Pharmacists Working in Family Medicine Groups (FMG).

Maheu A, Vanier MC, Rouleau L, Dugré N, Guénette L.

Pharmacy (Basel). 2019 Aug 5;7(3). pii: E108. doi: 10.3390/pharmacy7030108.

3.

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.

4.

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.

5.

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.

6.

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
7.

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. 2019 Apr;20(4):310-319. doi: 10.1080/15622975.2017.1379610. Epub 2017 Oct 9. Erratum in: World J Biol Psychiatry. 2019 Apr;20(4):I.

PMID:
28914127
8.

Fine-tuning and autoregulation of the intestinal determinant and tumor suppressor homeobox gene CDX2 by alternative splicing.

Balbinot C, Vanier M, Armant O, Nair A, Penichon J, Soret C, Martin E, Saandi T, Reimund JM, Deschamps J, Beck F, Domon-Dell C, Gross I, Duluc I, Freund JN.

Cell Death Differ. 2017 Dec;24(12):2173-2186. doi: 10.1038/cdd.2017.140. Epub 2017 Sep 1.

9.

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
10.

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.

11.

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.

12.

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.

13.

[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
14.

The tumor suppressor CDX2 opposes pro-metastatic biomechanical modifications of colon cancer cells through organization of the actin cytoskeleton.

Platet N, Hinkel I, Richert L, Murdamoothoo D, Moufok-Sadoun A, Vanier M, Lavalle P, Gaiddon C, Vautier D, Freund JN, Gross I.

Cancer Lett. 2017 Feb 1;386:57-64. doi: 10.1016/j.canlet.2016.10.040. Epub 2016 Nov 2.

PMID:
27816490
15.

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.

16.

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.

17.

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.

18.

Distinct mechanisms for opposite functions of homeoproteins Cdx2 and HoxB7 in double-strand break DNA repair in colon cancer cells.

Soret C, Martin E, Duluc I, Dantzer F, Vanier M, Gross I, Freund JN, Domon-Dell C.

Cancer Lett. 2016 May 1;374(2):208-15. doi: 10.1016/j.canlet.2016.02.026. Epub 2016 Feb 19.

PMID:
26902420
19.

Le « <i>Montreal model</i> » : enjeux du partenariat relationnel entre patients et professionnels de la santé.

Pomey MP, Flora L, Karazivan P, Dumez V, Lebel P, Vanier MC, Débarges B, Clavel N, Jouet E.

Sante Publique. 2015 Mar-Apr;1 Suppl:41-50. French. No abstract available.

PMID:
26414256
20.

[The Montreal model: the challenges of a partnership relationship between patients and healthcare professionals].

Pomey MP, Flora L, Karazivan P, Dumez V, Lebel P, Vanier MC, Débarges B, Clavel N, Jouet É.

Sante Publique. 2015 Jan-Feb;27(1 Suppl):S41-50. French.

PMID:
26168616
21.

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.

22.

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.

23.

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
24.

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
25.

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.

26.

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.

27.

Innovating in teaching collaborative practice with a large student cohort at Université de Montréal.

Vanier MC, Therriault PY, Lebel P, Nolin F, Lefebvre H, Brault I, Drouin E, Fernandez N; Interfaculty Operational Committee for Collaborative Practice Teaching at Université de Montréal.

J Allied Health. 2013 Winter;42(4):e97-e106.

PMID:
24326925
28.

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
29.

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
30.

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
31.

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
32.

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.

33.

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
34.

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.

35.

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.

36.

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.

37.

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
38.

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.

39.

Cdx2 homeoprotein inhibits non-homologous end joining in colon cancer but not in leukemia cells.

Renouf B, Soret C, Saandi T, Delalande F, Martin E, Vanier M, Duluc I, Gross I, Freund JN, Domon-Dell C.

Nucleic Acids Res. 2012 Apr;40(8):3456-69. doi: 10.1093/nar/gkr1242. Epub 2011 Dec 20.

40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

CDX2 in congenital gut gastric-type heteroplasia and intestinal-type Meckel diverticula.

Martin E, Vanier M, Tavian M, Guerin E, Domon-Dell C, Duluc I, Gross I, Rowland J, Kim S, Freund JN.

Pediatrics. 2010 Sep;126(3):e723-7. doi: 10.1542/peds.2009-3512. Epub 2010 Aug 2.

PMID:
20679295
46.

[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
47.

Niemann-Pick disease type C.

Vanier MT.

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

48.

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
49.

Impact of partial administration of the Cognitive Behavioral Driver's Inventory on concurrent validity for people with brain injury.

Duquette J, McKinley P, Mazer B, Gélinas I, Vanier M, Benoit D, Gresset J.

Am J Occup Ther. 2010 Mar-Apr;64(2):279-87.

PMID:
20437915
50.

A cluster randomized controlled Trial to Evaluate an Ambulatory primary care Management program for patients with dyslipidemia: the TEAM study.

Villeneuve J, Genest J, Blais L, Vanier MC, Lamarre D, Fredette M, Lussier MT, Perreault S, Hudon E, Berbiche D, Lalonde L.

CMAJ. 2010 Mar 23;182(5):447-55. doi: 10.1503/cmaj.090533. Epub 2010 Mar 8.

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