Professeur titulaire Département de médecine Faculté de médecine, Université Laval
Le Dr Jack Puymirat M.D., Ph.D., est neurologue, clinicien-chercheur au centre de recherche du CHU de Québec, et professeur au département de médecine de l’Université Laval. Ses travaux se concentrent sur l’étude des maladies neuromusculaires, des céphalées, et sur le développement d’une plateforme de production de cellules souches humaines induites à la pluripotence. Récemment, ses travaux sur la production de cellules souches ont été présentés à l’émission Découverte à Radio-Canada. Il a reçu plusieurs nominations, dont le prix du chercheur de l’année en 2006 décerné par Dystrophie Musculaire du Canada et le prix Hans Steinert en 2011, décerné par le consortium International sur la dystrophie myotonique de Steinert.
Recherche sur les maladies neuromusculaires
La dystrophie myotonique de Steinert est une dystrophie musculaire dont la prévalence est 20 fois supérieure dans la région du Saguenay-Lac-Saint-Jean que partout ailleurs au monde. En 2000, il a été établi que la maladie était due à l’accumulation d’ARNs mutés dans le noyau des cellules. Les recherches du Dr Puymirat se sont orientées vers le développement d’une thérapie génique, basée sur la destruction des ARNs toxiques par des oligonucléotides antisenses. Ses travaux ont conduit en 2016 au premier essai clinique de Phase 1 effectué aux États-Unis. Parallèlement à ses travaux de recherche, le Dr Puymirat et son équipe a un programme de recherche clinique portant sur: 1) L’établissement d’un registre provincial pour cette maladie destiné à faciliter les recherches et la participation des malades aux essais cliniques. 2) Le développement et la validation de protocoles de quantification de la force musculaire, l’étude de l’imagerie musculaire et la recherche de biomarqueurs de la maladie en vue des essais cliniques futurs. 3) Le développement de tests génétiques pour différentes maladies neuromusculaires, tests aujourd’hui utilisés en clinique et offert à la population du Québec.
La plateforme de production de cellules souches induites à la pluripotence (iPSC)
Avec le support financier de Brain Canada, le Dr Puymirat et son équipe ont développé une plateforme de production de cellules souches humaines induites à la pluripotence. Ces cellules peuvent être dérivées de la peau, du sang, de l’urine et de lignées lymphoblastiques immortalisées. Ces cellules peuvent se différencier en divers types cellulaires, en particulier en neurones, cellules musculaires et cardiaques. Elles sont utilisées pour modéliser les maladies neurodégénératives, neuromusculaires, psychiatriques, cribler des drogues, et développer des thérapies cellulaires.
Pharmaco-génomique sur les migraines
L’objectif de cette recherche est d’identifier des marqueurs moléculaires sanguins prédictifs de la réponse à différents médicaments utilisés dans le traitement de la migraine. Dans une première étape, le Dr Puymirat et son équipe développent un registre de sujet migraineux, étape indispensable pour des études de génomique. Ce registre contient des informations sur la réponse à différents médicaments et sera étendu au CHUM et à l’institut neurologique de Montréal.
Klein AF, Varela MA, Arandel L, Holland A, Naouar N, Arzumanov A, Seoane D, Revillod L, Bassez G, Ferry A, Jauvin D, Gourdon G, Puymirat J, Gait MJ, Furling D, Wood MJA. Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice. J Clin Invest, 129 (11), p. 4739-4744, 2019, ISSN: 0021-9738.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Diaz-Manera J, 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, Lochmuller H. Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis, 14 (1), p. 199, 2019.
Poulin H, Martineau L, Racine V, Puymirat J, Chahine M. Differentiation of lymphoblastoid-derived iPSCs into functional cardiomyocytes, neurons and myoblasts. Biochem Biophys Res Commun, 516 (1), p. 222-228, 2019, ISSN: 0006-291X.
De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S, Filnemus Myotonic Dystrophy Study Group, Hamroun D, Bassez G. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. Orphanet J Rare Dis, 14 (1), p. 122, 2019.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Consensus-based care recommendations for adults with myotonic dystrophy type 1.Neurol Clin Pract, 8 (6), p. 507-520, 2018, ISSN: 2163-0402.
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, Lochmuller H. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis, 13 (1), p. 155, 2018.
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 NrbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. Nat Commun, 9 (1), p. 2009, 2018, ISSN: 2041-1723.
Wei C, Stock L, Valanejad L, Zalewski ZA, Karns R, Puymirat J, Nelson D, Witte D, Woodgett J, Timchenko NA, Timchenko L. Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1.FASEB J, 32 (4), p. 2073-2085, 2018, ISSN: 0892-6638.
Martineau L, Racine V, Benichou SA, Puymirat J. 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. Stem Cell Res, 26, p. 103-106, 2018, ISSN: 1873-5061.
Melouane A, Carbonell A, Yoshioka M, Puymirat J, St-Amand JImplication of SPARC in the modulation of the extracellular matrix and mitochondrial function in muscle cells. PLoS ONE, 13 (2), p. e0192714, 2018.
Hebert LJ, Vial C, Hogrel JY, Puymirat J. Ankle Strength Impairments in Myotonic Dystrophy Type 1: A Five-Year Follow-up. J Neuromuscul Dis, 5 (3), p. 321-330, 2018, ISSN: 2214-3599.
Jauvin D, Chretien J, Pandey SK, Martineau L, Revillod L, Bassez G, Lachon A, MacLeod AR, Gourdon G, Wheeler TM, Thornton CA, Bennett CF, Puymirat J. Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. Mol Ther Nucleic Acids, 7, p. 465-474, 2017.
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. Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds. Dis Model Mech, 10 (4), p. 487-497, 2017, ISSN: 1754-8403.
Hogrel JY, Ollivier G, Ledoux I, Hebert LJ, Eymard B, Puymirat J, Bassez G. Relationships between grip strength, myotonia, and CTG expansion in myotonic dystrophy type 1.Ann Clin Transl Neurol, 4 (12), p. 921-925, 2017, ISSN: 2328-9503.
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. Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study. PLoS ONE, 11 (2), p. e0148264, 2016.
Bachasson D, Moraux A, Ollivier G, Decostre V, Ledoux I, Gidaro T, Servais L, Behin A, Stojkovic T, Hebert LJ, Puymirat J, Eymard B, Bassez G, Hogrel JY. Relationship between muscle impairments, postural stability, and gait parameters assessed with lower-trunk accelerometry in myotonic dystrophy type 1.Neuromuscul Disord, 26 (7), p. 428-35, 2016, ISSN: 0960-8966.
Dogan C, Puymirat J, Bassez G[DM-SCOPE, an intermediary appraisal report and benefits of databases in neuromuscular disorders].Med Sci (Paris), 31 Spec No 3, p. 18-9, 2015, ISSN: 0767-0974.
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, Lochmuller H. The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. Eur J Hum Genet, 23 (9), p. 1116-23, 2015, ISSN: 1018-4813.
Pratte A, Prevost C, Puymirat J, Mathieu J. Anticipation in myotonic dystrophy type 1 parents with small CTG expansions. Am J Med Genet A, 167A (4), p. 708-14, 2015, ISSN: 1552-4825.
Bouchard JP, Cossette L, Bassez G, Puymirat J. Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases. J Neurol, 262 (2), p. 285-93, 2015, ISSN: 0340-5354.
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 BRBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.PLoS ONE, 9 (9), p. e107324, 2014.
Gagnon C, Meola G, Hebert LJ, Puymirat J, Laberge L, Leone M. Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011.Neuromuscul Disord, 23 (12), p. 1056-68, 2013, ISSN: 0960-8966.
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, Lochmuller 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. Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Mol Ther, 21 (2), p. 266-8, 2013, ISSN: 1525-0016.
Zhao J, Dupre N, Puymirat J, Chahine M. Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians. J Physiol, 590 (11), p. 2629-44, 2012, ISSN: 0022-3751.
Puymirat J, Bouchard JP, Mathieu J. Efficacy and tolerability of a 20-mg dose of methylphenidate for the treatment of daytime sleepiness in adult patients with myotonic dystrophy type 1: a 2-center, randomized, double-blind, placebo-controlled, 3-week crossover trial. Clin Ther, 34 (5), p. 1103-11, 2012, ISSN: 0149-2918.
Hiba B, Richard N, Hebert LJ, Cote C, Nejjari M, Vial C, Bouhour F, Puymirat J, Janier M. Quantitative assessment of skeletal muscle degeneration in patients with myotonic dystrophy type 1 using MRI. J Magn Reson Imaging, 35 (3), p. 678-85, 2012, ISSN: 1053-1807.
Beaulieu D, Thebault P, Pelletier R, Chapdelaine P, Tarnopolsky M, Furling D, Puymirat J. Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy. Neurobiol Dis, 45 (1), p. 122-9, 2012, ISSN: 0969-9961.
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. Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus. PLoS Genet, 8 (11), p. e1003043, 2012, ISSN: 1553-7390.
Cote C, Hiba B, Hebert LJ, Vial C, Remec JF, Janier M, Puymirat JMR. I of tibialis anterior skeletal muscle in myotonic dystrophy type 1.Can J Neurol Sci, 38 (1), p. 112-8, 2011, ISSN: 0317-1671.
Bassez G, Puymirat J. Registres des dystrophies myotoniques : une collaboration franco-québécoiseLes Cahiers de Myologie, 16, p. 17-18, 2011, ISSN: 2108-2219.
Puymirat J, Bouchard JP, Mathieu J. Methylphenidate reduces excessive daytime sleepiness in patients with myotonic dystrophyNeuromuscul Disord, 21 (9-10), p. 717-718, 2011, ISSN: 0960-8966.
Beffy P, Del Carratore R, Masini M, Furling D, Puymirat J, Masiello P, Simili M. Altered signal transduction pathways and induction of autophagy in human myotonic dystrophy type 1 myoblasts. Int J Biochem Cell Biol, 42 (12), p. 1973-83, 2010, ISSN: 1357-2725.
Levesque E, Leclerc D, Puymirat J, Knoppers BM. Developing registries of volunteers: key principles to manage issues regarding personal information protection. J Med Ethics, 36 (11), p. 712-4, 2010, ISSN: 0306-6800.
Vignaud A, Ferry A, Huguet A, Baraibar M, Trollet C, Hyzewicz J, Butler-Browne G, Puymirat J, Gourdon G, Furling D. Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin-proteasome pathway. Neuromuscul Disord, 20 (5), p. 319-25, 2010, ISSN: 0960-8966.
Hebert LJ, Remec JF, Saulnier J, Vial C, Puymirat J. The use of muscle strength assessed with handheld dynamometers as a non-invasive biological marker in myotonic dystrophy type 1 patients: a multicenter study. BMC Musculoskelet Disord, 11 (1), p. 72, 2010.
Puymirat J, Giguere Y, Mathieu J, Bouchard JP. Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1.Neurology, 73 (24), p. 2126-7, 2009, ISSN: 0028-3878.
Pelletier R, Hamel F, Beaulieu D, Patry L, Haineault C, Tarnopolsky M, Schoser B, Puymirat J. Absence of a differentiation defect in muscle satellite cells from DM2 patients. Neurobiol Dis, 36 (1), p. 181-90, 2009, ISSN: 0969-9961.
Dupre N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscul Disord, 19 (5), p. 330-4, 2009, ISSN: 0960-8966.
Gosselin I, Thiffault I, Tetreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupre N, Vanasse M, Puymirat J, Brais B. Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscul Disord, 18 (6), p. 483-92, 2008, ISSN: 0960-8966.
Bernard G, Poulin C, Puymirat J, Sternberg D, Shevell M. Dosage effect of a dominant CLCN1 mutation: a novel syndrome. J Child Neurol, 23 (2), p. 163-6, 2008, ISSN: 0883-0738.
Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MSRN. A toxicity in myotonic muscular dystrophy induces NKX2-5 expression. Nat Genet, 40 (1), p. 61-8, 2008, ISSN: 1061-4036.
Rossignol E, Mathieu J, Thiffault I, Tetreault M, Dicaire MJ, Chrestian N, Dupre N, Puymirat J, Brais B. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians. Neurology, 69 (20), p. 1937-41, 2007, ISSN: 0028-3878.
Meijer IA, Dion P, Laurent S, Dupre N, Brais B, Levert A, Puymirat J, Rioux MF, Sylvain M, Zhu PP, Soderblom C, Stadler J, Blackstone C, Rouleau GA. Characterization of a novel SPG3A deletion in a French-Canadian family. Ann Neurol, 61 (6), p. 599-603, 2007, ISSN: 0364-5134.
Chrestian N, Puymirat J, Bouchard JP, Dupré NMyotonia congenita--a cause of muscle weakness and stiffness. Nat Clin Pract Neurol, 2 (7), p. 393-9; quiz following 399, 2006, ISSN: 1745-834X.
Arsenault ME, Prévost C, Lescault A, Laberge C, Puymirat J, Mathieu J. Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. Neurology, 66 (8), p. 1248-50, 2006, ISSN: 0028-3878.
Pelletier R, Caron SO, Puymirat JRN. A based gene therapy for dominantly inherited diseases. Curr Gene Ther, 6 (1), p. 131-46, 2006, ISSN: 1566-5232.
Langlois MA, Boniface C, Wang G, Alluin J, Salvaterra PM, Puymirat J, Rossi JJ, Lee NS. Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells. J Biol Chem, 280 (17), p. 16949-54, 2005, ISSN: 0021-9258.
Kim DH, Langlois MA, Lee KB, Riggs AD, Puymirat J, Rossi JJ. HnRNP H inhibits nuclear export of mRNA containing expanded CUG repeats and a distal branch point sequence. Nucleic Acids Res, 33 (12), p. 3866-74, 2005, ISSN: 0305-1048.
Langlois MA, Lee NS, Rossi JJ, Puymirat J. Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts. Mol Ther, 7 (5 Pt 1), p. 670-80, 2003, ISSN: 1525-0016.
Castanotto D, Li JR, Michienzi A, Langlois MA, Lee NS, Puymirat J, Rossi JJ. Intracellular ribozyme applications. Biochem Soc Trans, 30 (Pt 6), p. 1140-5, 2002, ISSN: 0300-5127.
Martel J, Cayrou C, Puymirat J. Identification of new thyroid hormone-regulated genes in rat brain neuronal cultures. Neuroreport, 13 (15), p. 1849-51, 2002, ISSN: 0959-4965.
Brisson D, Tremblay M, Prévost C, Laberge C, Puymirat J, Mathieu J. Sibship stability of genotype and phenotype in myotonic dystrophy. Clin Genet, 62 (3), p. 220-5, 2002, ISSN: 0009-9163.
Cayrou C, Denver RJ, Puymirat J. Suppression of the basic transcription element-binding protein in brain neuronal cultures inhibits thyroid hormone-induced neurite branching. Endocrinology, 143 (6), p. 2242-9, 2002, ISSN: 0013-7227.
Heyer E, Zietkiewicz E, Rochowski A, Yotova V, Puymirat J, Labuda D. Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees. Am J Hum Genet, 69 (5), p. 1113-26, 2001, ISSN: 0002-9297.
Furling D, Lemieux D, Taneja K, Puymirat J. Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts. Neuromuscul Disord, 11 (8), p. 728-35, 2001, ISSN: 0960-8966.
Dupré N, Cossette L, Hand CK, Bouchard JP, Rouleau GA, Puymirat J. A founder mutation in French-Canadian families with X-linked hereditary neuropathy. Can J Neurol Sci, 28 (1), p. 51-5, 2001, ISSN: 0317-1671.
Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Phenotypic manifestations in French-Canadian populations with Charcot-Marie-Tooth disease type 1A associated with 17p11.2 duplication. Ann N Y Acad Sci, 883, p. 497-9, 1999, ISSN: 0077-8923.
Furling D, Marette A, Puymirat J. Insulin-like growth factor I circumvents defective insulin action in human myotonic dystrophy skeletal muscle cells. Endocrinology, 140 (9), p. 4244-50, 1999, ISSN: 0013-7227.
Skuk D, Furling D, Bouchard JP, Goulet M, Roy B, Lacroix Y, Vilquin JT, Tremblay JP, Puymirat J. Transplantation of human myoblasts in SCID mice as a potential muscular model for myotonic dystrophy. J Neuropathol Exp Neurol, 58 (9), p. 921-31, 1999, ISSN: 0022-3069.
Denver RJ, Ouellet L, Furling D, Kobayashi A, Fujii-Kuriyama Y, Puymirat J. Basic transcription element-binding protein (BTEB) is a thyroid hormone-regulated gene in the developing central nervous system. Evidence for a role in neurite outgrowth. J Biol Chem, 274 (33), p. 23128-34, 1999, ISSN: 0021-9258.
Dupré N, Bouchard JP, Cossette L, Brunet D, Vanasse M, Lemieux B, Mathon G, Puymirat J. Clinical and electrophysiological study in French-Canadian population with Charcot-Marie-tooth disease type 1A associated with 17p11.2 duplication. Can J Neurol Sci, 26 (3), p. 196-200, 1999, ISSN: 0317-1671.
Vilquin JT, Guérette B, Puymirat J, Yaffe D, Tomé FM, Fardeau M, Fiszman M, Schwartz K, Tremblay JP. Myoblast transplantations lead to the expression of the laminin alpha 2 chain in normal and dystrophic (dy/dy) mouse muscles. Gene Ther, 6 (5), p. 792-800, 1999, ISSN: 0969-7128.
Baas D, Puymirat J, Sarliève LLPosttranscriptional regulation of oligodendroglial thyroid hormone (T3) receptor beta 1 by T3.Int J Dev Neurosci, 16 (6), p. 461-7, 1998, ISSN: 0736-5748.
Etongué-Mayer P, Faure R, Bouchard JP, Puymirat J. Characterization of a 54-kilodalton human protein kinase recognized by an antiserum raised against the myotonin kinase. Muscle Nerve, 21 (1), p. 8-17, 1998, ISSN: 0148-639X.
Deschênes I, Chahine M, Tremblay J, Paulin D, Puymirat J. Increase in the proliferative capacity of human myoblasts by using the T antigen under the vimentin promoter control. Muscle Nerve, 20 (4), p. 437-45, 1997, ISSN: 0148-639X.
Trépanier G, Furling D, Puymirat J, Mirault ME. Immunocytochemical localization of seleno-glutathione peroxidase in the adult mouse brain. Neuroscience, 75 (1), p. 231-43, 1996, ISSN: 0306-4522.
Guérette B, Roy R, Tremblay M, Asselin I, Kinoshita I, Puymirat J, Tremblay JP. Increased granzyme B mRNA after alloincompatible myoblast transplantation. Transplantation, 60 (9), p. 1011-6, 1995, ISSN: 0041-1337.
