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1

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

Luc J Hébert, Jean-François Remec, Joanne Saulnier, Christophe Vial, Jack Puymirat

Journal:

BMC Musculoskeletal Disorders

Year:

2010

Language:

english

File:

PDF, 869 KB

english, 2010

2

Increase in the proliferative capacity of human myoblasts by using the T antigen under the vimentin promoter control

Isabelle Deschênes, Mohamed Chahine, Jacques Tremblay, Denise Paulin, Jack Puymirat

Journal:

Year:

1997

Language:

english

File:

PDF, 605 KB

english, 1997

3

Characterization of a 54-kilodalton human protein kinase recognized by an antiserum raised against the myotonin kinase

Pierre Etongué-Mayer, Robert Faure, Jean-Pierre Bouchard, Jack Puymirat

Journal:

Year:

1998

Language:

english

File:

PDF, 242 KB

english, 1998

4

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, Laurie, Racine, Véronique, Benichou, Siham Ait, Puymirat, Jack

Journal:

Stem Cell Research

Year:

2018

Language:

english

File:

PDF, 258 KB

english, 2018

5

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

De Antonio, Marie, Dogan, Céline, Daidj, Ferroudja, Eymard, Bruno, Puymirat, Jack, Mathieu, Jean, Gagnon, Cynthia, Katsahian, Sandrine, Hamroun, Dalil, Bassez, Guillaume

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.64 MB

english, 2019

6

Oligodendrocyte maturation and progenitor cell proliferation are independently regulated by thyroid hormone

Dominique Baas, Denis Bourbeau, Louis L. Sarliéve, Marie-Elisabeth Ittel, Jean H. Dussault, Jack Puymirat

Journal:

Year:

1997

Language:

english

File:

PDF, 197 KB

english, 1997

7

Thyroid hormone up-regulates thyroid hormone receptor β gene expression in rat cerebral hemisphere astrocyte cultures

Jean-Marc Lebel, Sylvie L'Hérault, Jean H. Dussault, Jack Puymirat

Journal:

Year:

1993

Language:

english

File:

PDF, 878 KB

english, 1993

8

Phenotypic Manifestations in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

NICOLAS DUPRÉ, JEAN-PIERRE BOUCHARD, LOUISE COSSETTE, DENIS BRUNET, MICHEL VANASSE, BERNARD LEMIEUX, GILLES MATHON, JACK PUYMIRAT

Journal:

Annals of the New York Academy of Sciences

Year:

1999

File:

PDF, 198 KB

1999

9

RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression

Yadava, Ramesh S, Frenzel-McCardell, Carla D, Yu, Qing, Srinivasan, Varadamurthy, Tucker, Amy L, Puymirat, Jack, Thornton, Charles A, Prall, Owen W, Harvey, Richard P, Mahadevan, Mani S

Journal:

Nature Genetics

Year:

2007

Language:

english

File:

PDF, 655 KB

english, 2007

10

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

Bassem Hiba, Nathalie Richard, Luc J. Hébert, Chantal Coté, Mimoun Nejjari, Christoph Vial, Françoise Bouhour, Jack Puymirat, Marc Janier

Journal:

Journal of Magnetic Resonance Imaging

Year:

2012

Language:

english

File:

PDF, 420 KB

english, 2012

11

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

Jack Puymirat, Jean-Pierre Bouchard, Jean Mathieu

Journal:

Clinical Therapeutics

Year:

2012

Language:

english

File:

PDF, 311 KB

english, 2012

12

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

Richard Pelletier, Frederic Hamel, Daniel Beaulieu, Lysanne Patry, Caroline Haineault, Mark Tarnopolsky, Benedikt Schoser, Jack Puymirat

Journal:

Neurobiology of Disease

Year:

2009

Language:

english

File:

PDF, 669 KB

english, 2009

13

Abnormal prostaglandin E2 production blocks myogenic differentiation in myotonic dystrophy

Daniel Beaulieu, Philippe Thebault, Richard Pelletier, Pierre Chapdelaine, Mark Tarnopolsky, Denis Furling, Jack Puymirat

Journal:

Neurobiology of Disease

Year:

2012

Language:

english

File:

PDF, 899 KB

english, 2012

14

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

Pascale Beffy, Renata Del Carratore, Matilde Masini, Denis Furling, Jack Puymirat, Pellegrino Masiello, Marcella Simili

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2010

Language:

english

File:

PDF, 1.50 MB

english, 2010

15

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

Nicolas Dupré, Nicolas Chrestian, Jean-Pierre Bouchard, Elsa Rossignol, Denis Brunet, Damien Sternberg, Bernard Brais, Jean Mathieu, Jack Puymirat

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 147 KB

english, 2009

16

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

Isabelle Gosselin, Isabelle Thiffault, Martine Tétreault, Vann Chau, Marie-Josée Dicaire, Lina Loisel, Monique Emond, Jan Senderek, Jean Mathieu, Nicolas Dupré, Michel Vanasse, Jack Puymirat, Bernard

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 210 KB

english, 2008

17

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

Alban Vignaud, Arnaud Ferry, Aline Huguet, Martin Baraibar, Capucine Trollet, Janek Hyzewicz, Gillian Butler-Browne, Jack Puymirat, Genevieve Gourdon, Denis Furling

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 707 KB

english, 2010

18

Posttranscriptional regulation of oligodendroglial thyroid hormone (T3) receptor β1 by T3

Dominique Baas, Jack Puymirat, Louis L Sarliève

Journal:

International Journal of Developmental Neuroscience

Year:

1998

Language:

english

File:

PDF, 456 KB

english, 1998

19

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

Denis Furling, Dany Lemieux, Krishan Taneja, Jack Puymirat

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 307 KB

english, 2001

20

Phylogenetic and Familial Estimates of Mitochondrial Substitution Rates: Study of Control Region Mutations in Deep-Rooting Pedigrees

Evelyne Heyer, Ewa Zietkiewicz, Andrzej Rochowski, Vania Yotova, Jack Puymirat, Damian Labuda

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 975 KB

english, 2001

21

Red blood cell CuZn superoxide dismutase activity in sporadic amyotrophic lateral sclerosis

Jack Puymirat, Louise Cossette, France Gosselin, Jean-Pierre Bouchard

Journal:

Journal of the Neurological Sciences

Year:

1994

Language:

english

File:

PDF, 228 KB

english, 1994

22

Immunocytochemical localization of nuclear 3,5,3′-triiodothyronine (l-T3) receptors in astrocyte cultures

Min Luo, Jack Puymirat, Jean H. Dussault

Journal:

Developmental Brain Research

Year:

1989

Language:

english

File:

PDF, 1.71 MB

english, 1989

23

Transgenic Glutathione Peroxidase Mouse Models for Neuroprotection Studies

MARC-EDOUARD MIRAULT, ALAIN TREMBLAY, DENIS FURLING, GENEVIEVE TREPANIER, FRANCINE DUGRE, JACK PUYMIRAT, FRANÇOIS POTHIER

Journal:

Annals of the New York Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 1.42 MB

english, 1994

24

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

Juan Zhao, Nicolas Duprè, Jack Puymirat, Mohamed Chahine

Journal:

The Journal of Physiology

Year:

2012

Language:

english

File:

PDF, 1.21 MB

english, 2012

25

Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop

Gagnon, Cynthia, Meola, Giovanni, Hébert, Luc J., Puymirat, Jack, Laberge, Luc, Leone, Mario

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 298 KB

english, 2013

26

Localization of cells in the rat brain expressing fumarylacetoacetate hydrolase, the deficient enzyme in hereditary tyrosinemia type 1

Labelle, Yves, Puymirat, Jack, Tanguay, Robert M.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1993

Language:

english

File:

PDF, 1.37 MB

english, 1993

27

Thyroid receptors in the rat brain

Journal:

Progress in Neurobiology

Year:

1992

Language:

english

File:

PDF, 1.16 MB

english, 1992

28

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

Bouchard, Jean-Pierre, Cossette, Louise, Bassez, Guillaume, Puymirat, Jack

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 405 KB

english, 2015

29

Anticipation in myotonic dystrophy type 1 parents with small CTG expansions

Pratte, Annabelle, Prévost, Claude, Puymirat, Jack, Mathieu, Jean

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 609 KB

english, 2015

30

RNA Based Gene Therapy for Dominantly Inherited Diseases

Pelletier, Richard, Caron, Solenne, Puymirat, Jack

Journal:

Current Gene Therapy

Year:

2006

Language:

english

File:

PDF, 331 KB

english, 2006

31

Suppression of the Basic Transcription Element-Binding Protein in Brain Neuronal Cultures Inhibits Thyroid Hormone-Induced Neurite Branching

Cayrou, Christelle, Denver, Robert J., Puymirat, Jack

Journal:

Year:

2002

Language:

english

File:

PDF, 315 KB

english, 2002

32

Myotonia congenita—a cause of muscle weakness and stiffness

Chrestian, Nicolas, Puymirat, Jack, Bouchard, Jean-Pierre, Dupré, Nicolas

Journal:

Nature Clinical Practice Neurology

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

33

Insulin-Like Growth Factor I Circumvents Defective Insulin Action in Human Myotonic Dystrophy Skeletal Muscle Cells 1

Furling, Denis, Marette, André, Puymirat, Jack

Journal:

Year:

1999

Language:

english

File:

PDF, 418 KB

english, 1999

34

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

Bachasson, Damien, Moraux, Amélie, Ollivier, Gwenn, Decostre, Valérie, Ledoux, Isabelle, Gidaro, Teresa, Servais, Laurent, Behin, Anthony, Stojkovic, Tanya, Hébert, Luc J., Puymirat, Jack, Eymard, Bru

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 800 KB

english, 2016

35

Clinical and Electrophysiological Study in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication

Dupré, Nicolas, Bouchard, Jean-Pierre, Cossette, Louise, Brunet, Denis, Vanasse, Michel, Lemieux, Benard, Mathon, Gilles, Puymirat, Jack

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

1999

Language:

english

File:

PDF, 541 KB

english, 1999

36

MRI of Tibialis Anterior Skeletal Muscle in Myotonic Dystrophy Type 1

Coté, Chantal, Hiba, Bassem, Hebert, Luc J., Vial, Christophe, Remec, Jean François, Janier, Marc, Puymirat, Jack

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2011

File:

PDF, 168 KB

2011

37

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

Martel, Julie, Cayrou, Christelle, Puymirat, Jack

Journal:

Year:

2002

Language:

english

File:

PDF, 107 KB

english, 2002

38

INCREASED GRANZYME B mRNA AFTER ALLOINCOMPATIBLE MYOBLAST TRANSPLANTATION

GUéRETTE, BENOIT, ROY, RAYNALD, TREMBLAY, MARTINE, ASSELIN, ISABELLE, KINOSHITA, IKUO, PUYMIRAT, JACK, TREMBLAY, JACQUES P.

Journal:

Transplantation Journal

Year:

1995

File:

PDF, 888 KB

1995

39

Transplantation of Human Myoblasts in SCID Mice as a Potential Muscular Model for Myotonic Dystrophy

Skuk, Daniel, Furling, Denis, Bouchard, Jean-Pierre, Goulet, Marlyne, Roy, Brigitte, Lacroix, Yolene, Vilquin, Jean-Thomas, Tremblay, Jacques P., Puymirat, Jack

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

1999

File:

PDF, 816 KB

1999

40

Expression of α and β thyroid receptors during oligodendrocyte differentiation

Baas, Dominique, Bourbeau, Denis, Carre, Jean Luc, Sarlieve, Louis L., Dussault, Jean H., Puymirat, Jack

Journal:

Year:

1994

File:

PDF, 255 KB

1994

41

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

Emmanuelle Lévesque, Dominic Leclerc, Jack Puymirat and Bartha Maria Knoppers

Journal:

Journal of Medical Ethics

Year:

2010

Language:

english

File:

PDF, 636 KB

english, 2010

42

Overexpression of the β1 Thyroid Receptor Induces Differentiation in Neuro-2a Cells

Jean-Marc Lebel, Jean H. Dussault and Jack Puymirat

Journal:

Proceedings of the National Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 1.17 MB

english, 1994

43

A Founder Mutation in French-Canadian Families with X-linked Hereditary Neuropathy

Dupré, Nicolas, Cossette, Louise, Hand, Collette K., Bouchard, Jean-Pierre, Rouleau, Guy A, Puymirat, Jack

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2001

File:

PDF, 41 KB

2001

44

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

Wei, Christina, Stock, Lauren, Valanejad, Leila, Zalewski, Zachary A., Karns, Rebekah, Puymirat, Jack, Nelson, David, Witte, David, Woodgett, Jim, Timchenko, Nikolai A., Timchenko, Lubov

Journal:

The FASEB Journal

Year:

2017

Language:

english

File:

PDF, 3.37 MB

english, 2017

45

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

Hogrel, Jean-Yves, Ollivier, Gwenn, Ledoux, Isabelle, Hébert, Luc J., Eymard, Bruno, Puymirat, Jack, Bassez, Guillaume

Journal:

Annals of Clinical and Translational Neurology

Year:

2017

Language:

english

File:

PDF, 150 KB

english, 2017

46

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

Sellier, Chantal, Cerro-Herreros, Estefanía, Blatter, Markus, Freyermuth, Fernande, Gaucherot, Angeline, Ruffenach, Frank, Sarkar, Partha, Puymirat, Jack, Udd, Bjarne, Day, John W., Meola, Giovanni, B

Journal:

Nature Communications

Year:

2018

Language:

english

File:

PDF, 3.65 MB

english, 2018

47

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

Hébert, Luc J., Vial, Christophe, Hogrel, Jean-Yves, Puymirat, Jack

Journal:

Journal of Neuromuscular Diseases

Year:

2018

Language:

english

File:

PDF, 552 KB

english, 2018

48

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

Melouane, Aicha, Carbonell, Antoine, Yoshioka, Mayumi, Puymirat, Jack, St-Amand, Jonny, Gallouzi, Imed Eddine

Journal:

Year:

2018

Language:

english

File:

PDF, 6.59 MB

english, 2018

49

DM-SCOPE, bilan d’étape et atouts des bases de données pour les maladies neuromusculaires

Dogan, Céline, Puymirat, Jack, Bassez, Guillaume

Journal:

médecine/sciences

Year:

2015

Language:

french

File:

PDF, 923 KB

french, 2015

50

Generation of a human induced pluripotent stem cell line (UQACi001-A) from a severe epidermolysis bullosa simplex patient with the heterozygous mutation p.R125S in the KRT14 gene

Bchetnia, Mbarka, Martineau, Laurie, Racine, VÃ©ronique, Powell, Julie, McCuaig, Catherine, Puymirat, Jack, Laprise, Catherine

Journal:

Stem Cell Research

Year:

2020

Language:

english

File:

PDF, 1.14 MB

english, 2020