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Items: 1 to 50 of 113

1.

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.

Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H.

Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0.

2.

Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up.

Hébert LJ, Vial C, Hogrel JY, Puymirat J.

J Neuromuscul Dis. 2018;5(3):321-330. doi: 10.3233/JND-180311.

PMID:
29889079
3.

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.

Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N.

Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x.

4.

Implication of SPARC in the modulation of the extracellular matrix and mitochondrial function in muscle cells.

Melouane A, Carbonell A, Yoshioka M, Puymirat J, St-Amand J.

PLoS One. 2018 Feb 8;13(2):e0192714. doi: 10.1371/journal.pone.0192714. eCollection 2018.

5.

Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.

Hogrel JY, Ollivier G, Ledoux I, Hébert LJ, Eymard B, Puymirat J, Bassez G.

Ann Clin Transl Neurol. 2017 Nov 7;4(12):921-925. doi: 10.1002/acn3.496. eCollection 2017 Dec.

6.

Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A.

Martineau L, Racine V, Benichou SA, Puymirat J.

Stem Cell Res. 2018 Jan;26:103-106. doi: 10.1016/j.scr.2017.12.010. Epub 2017 Dec 16.

7.

Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1.

Wei C, Stock L, Valanejad L, Zalewski ZA, Karns R, Puymirat J, Nelson D, Witte D, Woodgett J, Timchenko NA, Timchenko L.

FASEB J. 2018 Apr;32(4):2073-2085. doi: 10.1096/fj.201700700R. Epub 2018 Jan 5.

PMID:
29203592
8.

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.

Jauvin D, Chrétien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, MacLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J.

Mol Ther Nucleic Acids. 2017 Jun 16;7:465-474. doi: 10.1016/j.omtn.2017.05.007. Epub 2017 May 17.

9.

Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds.

Arandel L, Polay Espinoza M, Matloka M, Bazinet A, De Dea Diniz D, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF, Furling D.

Dis Model Mech. 2017 Apr 1;10(4):487-497. doi: 10.1242/dmm.027367. Epub 2017 Feb 10.

10.

Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.

Bachasson D, Moraux A, Ollivier G, Decostre V, Ledoux I, Gidaro T, Servais L, Behin A, Stojkovic T, Hébert LJ, Puymirat J, Eymard B, Bassez G, Hogrel JY.

Neuromuscul Disord. 2016 Jul;26(7):428-35. doi: 10.1016/j.nmd.2016.05.009. Epub 2016 May 12.

PMID:
27234310
11.

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G.

PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016.

12.

[DM-SCOPE, an intermediary appraisal report and benefits of databases in neuromuscular disorders].

Dogan C, Puymirat J, Bassez G.

Med Sci (Paris). 2015 Nov;31 Spec No 3:18-9. doi: 10.1051/medsci/201531s305. Epub 2015 Nov 6. French. No abstract available.

13.

Identification and characterization of modified antisense oligonucleotides targeting DMPK in mice and nonhuman primates for the treatment of myotonic dystrophy type 1.

Pandey SK, Wheeler TM, Justice SL, Kim A, Younis HS, Gattis D, Jauvin D, Puymirat J, Swayze EE, Freier SM, Bennett CF, Thornton CA, MacLeod AR.

J Pharmacol Exp Ther. 2015 Nov;355(2):329-40. doi: 10.1124/jpet.115.226969. Epub 2015 Sep 1.

14.

Anticipation in myotonic dystrophy type 1 parents with small CTG expansions.

Pratte A, Prévost C, Puymirat J, Mathieu J.

Am J Med Genet A. 2015 Apr;167A(4):708-14. doi: 10.1002/ajmg.a.36950. Epub 2015 Feb 25.

PMID:
25712547
15.

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H.

Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24.

16.

Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases.

Bouchard JP, Cossette L, Bassez G, Puymirat J.

J Neurol. 2015 Feb;262(2):285-93. doi: 10.1007/s00415-014-7570-x. Epub 2014 Nov 8.

PMID:
25380585
17.

RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.

Klinck R, Fourrier A, Thibault P, Toutant J, Durand M, Lapointe E, Caillet-Boudin ML, Sergeant N, Gourdon G, Meola G, Furling D, Puymirat J, Chabot B.

PLoS One. 2014 Sep 11;9(9):e107324. doi: 10.1371/journal.pone.0107324. eCollection 2014.

18.

Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011.

Gagnon C, Meola G, Hébert LJ, Puymirat J, Laberge L, Leone M.

Neuromuscul Disord. 2013 Dec;23(12):1056-68. doi: 10.1016/j.nmd.2013.07.004. Epub 2013 Sep 5. No abstract available.

PMID:
24011704
19.

Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases.

Tremblay JP, Xiao X, Aartsma-Rus A, Barbas C, Blau HM, Bogdanove AJ, Boycott K, Braun S, Breakefield XO, Bueren JA, Buschmann M, Byrne BJ, Calos M, Cathomen T, Chamberlain J, Chuah M, Cornetta K, Davies KE, Dickson JG, Duchateau P, Flotte TR, Gaudet D, Gersbach CA, Gilbert R, Glorioso J, Herzog RW, High KA, Huang W, Huard J, Joung JK, Liu D, Liu D, Lochmüller H, Lustig L, Martens J, Massie B, Mavilio F, Mendell JR, Nathwani A, Ponder K, Porteus M, Puymirat J, Samulski J, Takeda S, Thrasher A, VandenDriessche T, Wei Y, Wilson JM, Wilton SD, Wolfe JH, Gao G.

Mol Ther. 2013 Feb;21(2):266-8. doi: 10.1038/mt.2013.4. No abstract available.

20.

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.

Huguet A, Medja F, Nicole A, Vignaud A, Guiraud-Dogan C, Ferry A, Decostre V, Hogrel JY, Metzger F, Hoeflich A, Baraibar M, Gomes-Pereira M, Puymirat J, Bassez G, Furling D, Munnich A, Gourdon G.

PLoS Genet. 2012;8(11):e1003043. doi: 10.1371/journal.pgen.1003043. Epub 2012 Nov 29.

22.

Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.

Zhao J, Duprè N, Puymirat J, Chahine M.

J Physiol. 2012 Jun 1;590(11):2629-44. doi: 10.1113/jphysiol.2011.223461. Epub 2012 Jan 16.

23.

Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI.

Hiba B, Richard N, Hébert LJ, Coté C, Nejjari M, Vial C, Bouhour F, Puymirat J, Janier M.

J Magn Reson Imaging. 2012 Mar;35(3):678-85. doi: 10.1002/jmri.22849. Epub 2011 Nov 8.

PMID:
22069222
24.

Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy.

Beaulieu D, Thebault P, Pelletier R, Chapdelaine P, Tarnopolsky M, Furling D, Puymirat J.

Neurobiol Dis. 2012 Jan;45(1):122-9. doi: 10.1016/j.nbd.2011.06.014. Epub 2011 Jun 25.

PMID:
21742035
25.

MRI of tibialis anterior skeletal muscle in myotonic dystrophy type 1.

Coté C, Hiba B, Hebert LJ, Vial C, Remec JF, Janier M, Puymirat J.

Can J Neurol Sci. 2011 Jan;38(1):112-8.

PMID:
21156439
26.

Developing registries of volunteers: key principles to manage issues regarding personal information protection.

Lévesque E, Leclerc D, Puymirat J, Knoppers BM.

J Med Ethics. 2010 Nov;36(11):712-4. doi: 10.1136/jme.2010.036715. Epub 2010 Sep 29.

PMID:
20880892
27.

Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts.

Beffy P, Del Carratore R, Masini M, Furling D, Puymirat J, Masiello P, Simili M.

Int J Biochem Cell Biol. 2010 Dec;42(12):1973-83. doi: 10.1016/j.biocel.2010.08.010. Epub 2010 Aug 24.

PMID:
20797447
28.

The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: a multicenter study.

Hébert LJ, Remec JF, Saulnier J, Vial C, Puymirat J.

BMC Musculoskelet Disord. 2010 Apr 18;11:72. doi: 10.1186/1471-2474-11-72.

29.

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway.

Vignaud A, Ferry A, Huguet A, Baraibar M, Trollet C, Hyzewicz J, Butler-Browne G, Puymirat J, Gourdon G, Furling D.

Neuromuscul Disord. 2010 May;20(5):319-25. doi: 10.1016/j.nmd.2010.03.006. Epub 2010 Mar 25.

PMID:
20346670
30.

Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1.

Puymirat J, Giguère Y, Mathieu J, Bouchard JP.

Neurology. 2009 Dec 15;73(24):2126-7. doi: 10.1212/WNL.0b013e3181c677e1. No abstract available.

PMID:
20018643
31.

Absence of a differentiation defect in muscle satellite cells from DM2 patients.

Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, Tarnopolsky M, Schoser B, Puymirat J.

Neurobiol Dis. 2009 Oct;36(1):181-90. doi: 10.1016/j.nbd.2009.07.009. Epub 2009 Jul 24.

PMID:
19632331
32.

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster.

Gosselin I, Thiffault I, Tétreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupré N, Vanasse M, Puymirat J, Brais B.

Neuromuscul Disord. 2008 Jun;18(6):483-92. doi: 10.1016/j.nmd.2008.04.001. Epub 2008 Jun 3.

PMID:
18511281
33.

Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.

Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J.

Neuromuscul Disord. 2009 May;19(5):330-4. doi: 10.1016/j.nmd.2008.01.007. Epub 2008 Mar 11.

PMID:
18337100
34.

Dosage effect of a dominant CLCN1 mutation: a novel syndrome.

Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M.

J Child Neurol. 2008 Feb;23(2):163-6. doi: 10.1177/0883073807307974.

PMID:
18263754
35.

RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.

Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS.

Nat Genet. 2008 Jan;40(1):61-8. Epub 2007 Dec 16.

36.

A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.

Rossignol E, Mathieu J, Thiffault I, Tétreault M, Dicaire MJ, Chrestian N, Dupré N, Puymirat J, Brais B.

Neurology. 2007 Nov 13;69(20):1937-41.

PMID:
17998485
37.

Characterization of a novel SPG3A deletion in a French-Canadian family.

Meijer IA, Dion P, Laurent S, Dupré N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA.

Ann Neurol. 2007 Jun;61(6):599-603.

PMID:
17427918
38.

Myotonia congenita--a cause of muscle weakness and stiffness.

Chrestian N, Puymirat J, Bouchard JP, Dupré N.

Nat Clin Pract Neurol. 2006 Jul;2(7):393-9; quiz following 399.

PMID:
16932590
39.

Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions.

Arsenault ME, Prévost C, Lescault A, Laberge C, Puymirat J, Mathieu J.

Neurology. 2006 Apr 25;66(8):1248-50.

PMID:
16636244
40.

RNA based gene therapy for dominantly inherited diseases.

Pelletier R, Caron SO, Puymirat J.

Curr Gene Ther. 2006 Feb;6(1):131-46. Review.

PMID:
16475951
41.

HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence.

Kim DH, Langlois MA, Lee KB, Riggs AD, Puymirat J, Rossi JJ.

Nucleic Acids Res. 2005 Jul 15;33(12):3866-74. Print 2005.

42.

Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells.

Langlois MA, Boniface C, Wang G, Alluin J, Salvaterra PM, Puymirat J, Rossi JJ, Lee NS.

J Biol Chem. 2005 Apr 29;280(17):16949-54. Epub 2005 Feb 18.

43.

Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts.

Langlois MA, Lee NS, Rossi JJ, Puymirat J.

Mol Ther. 2003 May;7(5 Pt 1):670-80.

44.

Viral vector producing antisense RNA restores myotonic dystrophy myoblast functions.

Furling D, Doucet G, Langlois MA, Timchenko L, Belanger E, Cossette L, Puymirat J.

Gene Ther. 2003 May;10(9):795-802.

PMID:
12704419
45.

Intracellular ribozyme applications.

Castanotto D, Li JR, Michienzi A, Langlois MA, Lee NS, Puymirat J, Rossi JJ.

Biochem Soc Trans. 2002 Nov;30(Pt 6):1140-5. Review.

PMID:
12440991
46.

Identification of new thyroid hormone-regulated genes in rat brain neuronal cultures.

Martel J, Cayrou C, Puymirat J.

Neuroreport. 2002 Oct 28;13(15):1849-51.

PMID:
12395077
47.

Sibship stability of genotype and phenotype in myotonic dystrophy.

Brisson D, Tremblay M, Prévost C, Laberge C, Puymirat J, Mathieu J.

Clin Genet. 2002 Sep;62(3):220-5.

PMID:
12220437
48.
49.

Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts.

Furling D, Lemieux D, Taneja K, Puymirat J.

Neuromuscul Disord. 2001 Nov;11(8):728-35.

PMID:
11595515
50.

Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees.

Heyer E, Zietkiewicz E, Rochowski A, Yotova V, Puymirat J, Labuda D.

Am J Hum Genet. 2001 Nov;69(5):1113-26. Epub 2001 Oct 1.

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