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Items: 1 to 20 of 106

1.

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

Arandel L, Polay-Espinosa 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 Feb 10. pii: dmm.027367. doi: 10.1242/dmm.027367. [Epub ahead of print]

2.

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
3.

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 Feb 5.

4.

[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.

5.

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.

6.

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
7.

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.

8.

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
9.

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 Sep 11.

10.

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
11.

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.

12.

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.

14.

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.

15.

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
16.

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
17.

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
18.

Health supervision and anticipatory guidance in adult myotonic dystrophy type 1.

Gagnon C, Chouinard MC, Laberge L, Veillette S, Bégin P, Breton R, Jean S, Brisson D, Gaudet D, Mathieu J; DMI Expert Panel..

Neuromuscul Disord. 2010 Dec;20(12):847-51. doi: 10.1016/j.nmd.2010.08.006. Epub 2010 Sep 29.

PMID:
20884209
19.

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
20.

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

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