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Items: 45

1.

A Complete Pipeline for Isolating and Sequencing MicroRNAs, and Analyzing Them Using Open Source Tools.

Course MM, Gudsnuk K, Valdmanis PN.

J Vis Exp. 2019 Aug 21;(150). doi: 10.3791/59901.

PMID:
31498311
2.

Alternative splicing in a presenilin 2 variant associated with Alzheimer disease.

Braggin JE, Bucks SA, Course MM, Smith CL, Sopher B, Osnis L, Shuey KD, Domoto-Reilly K, Caso C, Kinoshita C, Scherpelz KP, Cross C, Grabowski T, Nik SHM, Newman M, Garden GA, Leverenz JB, Tsuang D, Latimer C, Gonzalez-Cuyar LF, Keene CD, Morrison RS, Rhoads K, Wijsman EM, Dorschner MO, Lardelli M, Young JE, Valdmanis PN, Bird TD, Jayadev S.

Ann Clin Transl Neurol. 2019 Mar 10;6(4):762-777. doi: 10.1002/acn3.755. eCollection 2019 Apr.

3.

miR-122 removal in the liver activates imprinted microRNAs and enables more effective microRNA-mediated gene repression.

Valdmanis PN, Kim HK, Chu K, Zhang F, Xu J, Munding EM, Shen J, Kay MA.

Nat Commun. 2018 Dec 14;9(1):5321. doi: 10.1038/s41467-018-07786-7.

4.

Future of rAAV Gene Therapy: Platform for RNAi, Gene Editing, and Beyond.

Valdmanis PN, Kay MA.

Hum Gene Ther. 2017 Apr;28(4):361-372. doi: 10.1089/hum.2016.171. Epub 2017 Jan 10.

5.

From animal models to human disease: a genetic approach for personalized medicine in ALS.

Picher-Martel V, Valdmanis PN, Gould PV, Julien JP, Dupré N.

Acta Neuropathol Commun. 2016 Jul 11;4(1):70. doi: 10.1186/s40478-016-0340-5. Review.

6.

RNA interference-induced hepatotoxicity results from loss of the first synthesized isoform of microRNA-122 in mice.

Valdmanis PN, Gu S, Chu K, Jin L, Zhang F, Munding EM, Zhang Y, Huang Y, Kutay H, Ghoshal K, Lisowski L, Kay MA.

Nat Med. 2016 May;22(5):557-62. doi: 10.1038/nm.4079. Epub 2016 Apr 11.

7.

Promoterless gene targeting without nucleases ameliorates haemophilia B in mice.

Barzel A, Paulk NK, Shi Y, Huang Y, Chu K, Zhang F, Valdmanis PN, Spector LP, Porteus MH, Gaensler KM, Kay MA.

Nature. 2015 Jan 15;517(7534):360-4. doi: 10.1038/nature13864. Epub 2014 Oct 29.

8.

Regulation of microRNA-mediated gene silencing by microRNA precursors.

Roy-Chaudhuri B, Valdmanis PN, Zhang Y, Wang Q, Luo QJ, Kay MA.

Nat Struct Mol Biol. 2014 Sep;21(9):825-32. doi: 10.1038/nsmb.2862. Epub 2014 Aug 3.

9.

Upregulation of the microRNA cluster at the Dlk1-Dio3 locus in lung adenocarcinoma.

Valdmanis PN, Roy-Chaudhuri B, Kim HK, Sayles LC, Zheng Y, Chuang CH, Caswell DR, Chu K, Zhang Y, Winslow MM, Sweet-Cordero EA, Kay MA.

Oncogene. 2015 Jan 2;34(1):94-103. doi: 10.1038/onc.2013.523. Epub 2013 Dec 9.

10.

Spastic Paraplegia 8.

Valdmanis PN, Meijer IA, Rouleau GA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2008 Aug 13 [updated 2013 Jul 25].

11.

The expanding repertoire of circular RNAs.

Valdmanis PN, Kay MA.

Mol Ther. 2013 Jun;21(6):1112-4. doi: 10.1038/mt.2013.101. No abstract available.

12.

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Kabashi E, El Oussini H, Bercier V, Gros-Louis F, Valdmanis PN, McDearmid J, Mejier IA, Dion PA, Dupre N, Hollinger D, Sinniger J, Dirrig-Grosch S, Camu W, Meininger V, Loeffler JP, René F, Drapeau P, Rouleau GA, Dupuis L.

Hum Mol Genet. 2013 Jun 15;22(12):2350-60. doi: 10.1093/hmg/ddt080. Epub 2013 Feb 26.

PMID:
23446633
13.

The loop position of shRNAs and pre-miRNAs is critical for the accuracy of dicer processing in vivo.

Gu S, Jin L, Zhang Y, Huang Y, Zhang F, Valdmanis PN, Kay MA.

Cell. 2012 Nov 9;151(4):900-911. doi: 10.1016/j.cell.2012.09.042.

14.

rAAV-mediated tumorigenesis: still unresolved after an AAV assault.

Valdmanis PN, Lisowski L, Kay MA.

Mol Ther. 2012 Nov;20(11):2014-7. doi: 10.1038/mt.2012.220. No abstract available.

15.

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations.

Corcia P, Valdmanis P, Millecamps S, Lionnet C, Blasco H, Mouzat K, Daoud H, Belzil V, Morales R, Pageot N, Danel-Brunaud V, Vandenberghe N, Pradat PF, Couratier P, Salachas F, Lumbroso S, Rouleau GA, Meininger V, Camu W.

Neurology. 2012 May 8;78(19):1519-26. doi: 10.1212/WNL.0b013e3182553c88. Epub 2012 Apr 25.

PMID:
22539580
16.

Expression determinants of mammalian argonaute proteins in mediating gene silencing.

Valdmanis PN, Gu S, Schüermann N, Sethupathy P, Grimm D, Kay MA.

Nucleic Acids Res. 2012 Apr;40(8):3704-13. doi: 10.1093/nar/gkr1274. Epub 2011 Dec 30.

17.

Resequencing of 29 candidate genes in patients with familial and sporadic amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Gros-Louis F, Belzil V, Spiegelman D, Henrion E, Diallo O, Desjarlais A, Gauthier J, Camu W, Dion PA, Rouleau GA.

Arch Neurol. 2011 May;68(5):587-93. doi: 10.1001/archneurol.2010.351. Epub 2011 Jan 10.

PMID:
21220648
18.

A mutation in the RNF170 gene causes autosomal dominant sensory ataxia.

Valdmanis PN, Dupré N, Lachance M, Stochmanski SJ, Belzil VV, Dion PA, Thiffault I, Brais B, Weston L, Saint-Amant L, Samuels ME, Rouleau GA.

Brain. 2011 Feb;134(Pt 2):602-7. doi: 10.1093/brain/awq329. Epub 2010 Nov 28.

PMID:
21115467
19.

Integrative gene-tissue microarray-based approach for identification of human disease biomarkers: application to amyotrophic lateral sclerosis.

Kudo LC, Parfenova L, Vi N, Lau K, Pomakian J, Valdmanis P, Rouleau GA, Vinters HV, Wiedau-Pazos M, Karsten SL.

Hum Mol Genet. 2010 Aug 15;19(16):3233-53. doi: 10.1093/hmg/ddq232. Epub 2010 Jun 8.

PMID:
20530642
20.

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

Felbecker A, Camu W, Valdmanis PN, Sperfeld AD, Waibel S, Steinbach P, Rouleau GA, Ludolph AC, Andersen PM.

J Neurol Neurosurg Psychiatry. 2010 May;81(5):572-7. doi: 10.1136/jnnp.2009.192310.

PMID:
20460594
21.

Analysis of DPP6 and FGGY as candidate genes for amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Dion PA, Rouleau GA.

Amyotroph Lateral Scler. 2010 Aug;11(4):389-91. doi: 10.3109/17482960903358857.

PMID:
20001489
22.

A mutation that creates a pseudoexon in SOD1 causes familial ALS.

Valdmanis PN, Belzil VV, Lee J, Dion PA, St-Onge J, Hince P, Funalot B, Couratier P, Clavelou P, Camu W, Rouleau GA.

Ann Hum Genet. 2009 Nov;73(Pt 6):652-7. No abstract available.

23.

Mutations in FUS cause FALS and SALS in French and French Canadian populations.

Belzil VV, Valdmanis PN, Dion PA, Daoud H, Kabashi E, Noreau A, Gauthier J; S2D team, Hince P, Desjarlais A, Bouchard JP, Lacomblez L, Salachas F, Pradat PF, Camu W, Meininger V, Dupré N, Rouleau GA.

Neurology. 2009 Oct 13;73(15):1176-9. doi: 10.1212/WNL.0b013e3181bbfeef. Epub 2009 Sep 9.

24.

A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy.

Laforce R Jr, Valdmanis PN, Dupré N, Rouleau GA, Turgeon AF, Savard M.

Clin Neurol Neurosurg. 2009 Oct;111(8):691-4. doi: 10.1016/j.clineuro.2009.05.005. Epub 2009 Jun 12.

PMID:
19523753
25.

Recent advances in the genetics of amyotrophic lateral sclerosis.

Valdmanis PN, Daoud H, Dion PA, Rouleau GA.

Curr Neurol Neurosci Rep. 2009 May;9(3):198-205. Review.

PMID:
19348708
26.

A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS.

Wills AM, Cronin S, Slowik A, Kasperaviciute D, Van Es MA, Morahan JM, Valdmanis PN, Meininger V, Melki J, Shaw CE, Rouleau GA, Fisher EM, Shaw PJ, Morrison KE, Pamphlett R, Van den Berg LH, Figlewicz DA, Andersen PM, Al-Chalabi A, Hardiman O, Purcell S, Landers JE, Brown RH Jr.

Neurology. 2009 Jul 7;73(1):16-24. doi: 10.1212/WNL.0b013e3181a18674. Epub 2009 Mar 25.

27.

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J, Ticozzi N, Siddique T, McKenna-Yasek D, Sapp PC, Horvitz HR, Landers JE, Brown RH Jr.

Science. 2009 Feb 27;323(5918):1205-8. doi: 10.1126/science.1166066.

28.

No TARDBP mutations in a French Canadian population of patients with Parkinson disease.

Kabashi E, Daoud H, Rivière JB, Valdmanis PN, Bourgouin P, Provencher P, Pourcher E, Dion P, Dupré N, Rouleau GA.

Arch Neurol. 2009 Feb;66(2):281-2. doi: 10.1001/archneurol.2008.568. No abstract available. Erratum in: Arch Neurol. 2009 Apr;66(4):432. Valdamanis, Paul N [corrected to Valdmanis, Paul N].

PMID:
19204172
29.

The proportion of mutations predicted to have a deleterious effect differs between gain and loss of function genes in neurodegenerative disease.

Valdmanis PN, Verlaan DJ, Rouleau GA.

Hum Mutat. 2009 Mar;30(3):E481-9. doi: 10.1002/humu.20939.

PMID:
19105188
30.

Genome-wide association studies in amyotrophic lateral sclerosis.

Dupré N, Valdmanis P.

Eur J Hum Genet. 2009 Feb;17(2):137-8. doi: 10.1038/ejhg.2008.205. Epub 2008 Nov 5. No abstract available.

31.

Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis.

Daoud H, Valdmanis PN, Kabashi E, Dion P, Dupré N, Camu W, Meininger V, Rouleau GA.

J Med Genet. 2009 Feb;46(2):112-4. doi: 10.1136/jmg.2008.062463. Epub 2008 Oct 17.

PMID:
18931000
32.

A novel mutation in a large French-Canadian family with LGMD1B.

Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N.

Can J Neurol Sci. 2008 Jul;35(3):331-4.

PMID:
18714801
33.

Association of paraoxonase gene cluster polymorphisms with ALS in France, Quebec, and Sweden.

Valdmanis PN, Kabashi E, Dyck A, Hince P, Lee J, Dion P, D'Amour M, Souchon F, Bouchard JP, Salachas F, Meininger V, Andersen PM, Camu W, Dupré N, Rouleau GA.

Neurology. 2008 Aug 12;71(7):514-20. doi: 10.1212/01.wnl.0000324997.21272.0c.

PMID:
18695162
34.

50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

Broom WJ, Greenway M, Sadri-Vakili G, Russ C, Auwarter KE, Glajch KE, Dupre N, Swingler RJ, Purcell S, Hayward C, Sapp PC, McKenna-Yasek D, Valdmanis PN, Bouchard JP, Meininger V, Hosler BA, Glass JD, Polack M, Rouleau GA, Cha JH, Hardiman O, Brown RH Jr.

Amyotroph Lateral Scler. 2008 Aug;9(4):229-37. doi: 10.1080/17482960802103107.

PMID:
18608091
35.

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

Kabashi E, Valdmanis PN, Dion P, Spiegelman D, McConkey BJ, Vande Velde C, Bouchard JP, Lacomblez L, Pochigaeva K, Salachas F, Pradat PF, Camu W, Meininger V, Dupre N, Rouleau GA.

Nat Genet. 2008 May;40(5):572-4. doi: 10.1038/ng.132. Epub 2008 Mar 30.

PMID:
18372902
36.

Autosomal dominant sensory ataxia: a neuroaxonal dystrophy.

Moeller JJ, Macaulay RJ, Valdmanis PN, Weston LE, Rouleau GA, Dupré N.

Acta Neuropathol. 2008 Sep;116(3):331-6. doi: 10.1007/s00401-008-0362-6. Epub 2008 Mar 18.

PMID:
18347805
37.

A locus for primary lateral sclerosis on chromosome 4ptel-4p16.1.

Valdmanis PN, Dupré N, Rouleau GA.

Arch Neurol. 2008 Mar;65(3):383-6. doi: 10.1001/archneur.65.3.383.

PMID:
18332252
38.

Genetics of familial amyotrophic lateral sclerosis.

Valdmanis PN, Rouleau GA.

Neurology. 2008 Jan 8;70(2):144-52. doi: 10.1212/01.wnl.0000296811.19811.db. Review.

PMID:
18180444
39.

Oxidized/misfolded superoxide dismutase-1: the cause of all amyotrophic lateral sclerosis?

Kabashi E, Valdmanis PN, Dion P, Rouleau GA.

Ann Neurol. 2007 Dec;62(6):553-9. Review.

PMID:
18074357
40.

ALS predisposition modifiers: knock NOX, who's there? SOD1 mice still are.

Valdmanis PN, Kabashi E, Dion PA, Rouleau GA.

Eur J Hum Genet. 2008 Feb;16(2):140-2. Epub 2007 Nov 28. No abstract available.

41.

Autosomal dominant primary lateral sclerosis.

Dupré N, Valdmanis PN, Bouchard JP, Rouleau GA.

Neurology. 2007 Apr 3;68(14):1156-7. No abstract available.

PMID:
17404201
42.

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, Strong M, Rouleau GA.

Arch Neurol. 2007 Feb;64(2):240-5. Erratum in: Arch Neurol. 2007 Jun;64(6):909. Salachas, François [added].

PMID:
17296840
43.

A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada.

Valdmanis PN, Brunet D, St-Onge J, Weston L, Rouleau GA, Dupré N.

Neurology. 2006 Dec 26;67(12):2239-42.

PMID:
17190954
44.

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA.

Am J Hum Genet. 2007 Jan;80(1):152-61. Epub 2006 Dec 1.

45.

A novel neurodegenerative disease characterised by posterior column ataxia and pyramidal tract involvement maps to chromosome 8p12-8q12.1.

Valdmanis PN, Simões Lopes AA, Gros-Louis F, Stewart JD, Rouleau GA, Dupré N.

J Med Genet. 2004 Aug;41(8):634-9. No abstract available.

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