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1

Ehlers–Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies

N.C. Voermans, G.J. Jenniskens, B.C. Hamel, J. Schalkwijk, P. Guicheney, B.G. van Engelen

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 211 KB

english, 2007

2

EMG and nerve conduction studies in children with congenital muscular dystrophy

Susana Quijano-Roy, Francis Renault, Norma Romero, Pascale Guicheney, Michel Fardeau, Brigitte Estournet

Journal:

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

3

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Guglielmina Pepe, Laura Lucarini, Rui-Zhu Zhang, Te-Cheng Pan, Betti Giusti, Susana Quijano-Roy, Corine Gartioux, Katharine M. D. Bushby, Pascale Guicheney, Mon-Li Chu

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

4

M.P.5.05 Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy)

S. Quijano-Roy, D. Avila-Smirnow, M. Zayani, S. Chaabane, M. Hamida, B. Estournet, L. Viollet, D. Fischer, P. Cuvelier, A. Ferreiro, N. Dehlinger, N.B. Romero, L. Briñas, C. Gartioux, P. Guicheney, P.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

5

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

Guglielmina Pepe, Enrico Bertini, Paolo Bonaldo, Kate Bushby, Betti Giusti, Marianne de Visser, Pascale Guicheney, Giovanna Lattanzi, Luciano Merlini, Francesco Muntoni, Ichizo Nishino, Ikuya Nonaka,

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

6

Selenoprotein N in skeletal muscle: from diseases to function

Castets, Perrine, Lescure, Alain, Guicheney, Pascale, Allamand, Valérie

Journal:

Journal of Molecular Medicine

Year:

2012

Language:

english

File:

PDF, 932 KB

english, 2012

7

Genomic Organization of the KCNQ1 K+ Channel Gene and Identification of C-Terminal Mutations in the Long-QT Syndrome

Neyroud, N., Richard, P., Vignier, N., Donger, C., Denjoy, I., Demay, L., Shkolnikova, M., Pesce, R., Chevalier, P., Hainque, B., Coumel, P., Schwartz, K., Guicheney, P.

Journal:

Circulation Research

Year:

1999

Language:

english

File:

PDF, 148 KB

english, 1999

8

Whole-body muscle magnetic resonance imaging in SEPN1 -related myopathy shows a homogeneous and recognizable pattern

Hankiewicz, Karolina, Carlier, Robert Y., Lazaro, Leila, Linzoain, Javier, Barnerias, Christine, Gómez-Andrés, David, Avila-Smirnow, Daniela, Ferreiro, Ana, Estournet, Brigitte, Guicheney, Pascale, Ge

Journal:

Year:

2015

Language:

english

File:

PDF, 321 KB

english, 2015

9

Phenylephrine, vasopressin and angiotensin II as determinants of proto-oncogene and heat-shock protein gene expression in adult rat heart and aorta

Moalic, Jean Marie, Bauters, Christophe, Himbert, Dominique, Bercovici, Josiane, Mouas, Christian, Guicheney, Pascale, Baudoin-Legros, Maryvonne, Rappaport, Lydie, Emanoil-Ravier, Rodica, Mezger, Val?

Journal:

Journal of Hypertension

Year:

1989

File:

PDF, 1.14 MB

1989

10

Partial laminin α2 chain deficiency in a patient with myopathy resembling inclusion body myositis

Claudia Di Blasi, Marina Mora, Davide Pareyson, Laura Farina, Angelo Sghirlanzoni, Nicolas Vignier, Flavia Blasevich, Ferdinando Cornelio, Pascale Guicheney, Lucia Morandi

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 6.74 MB

english, 2000

11

Desmin-related myopathy with mallory body–like inclusions is caused by mutations of the selenoprotein N gene

Ana Ferreiro, Chantal Ceuterick-de Groote, Jared J. Marks, Nathalie Goemans, Gudrun Schreiber, Folker Hanefeld, Michel Fardeau, Jean-Jacques Martin, Hans H. Goebel, Pascale Richard, Pascale Guicheney,

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 1.19 MB

english, 2004

12

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

Nigel F. Clarke, Warren Kidson, Susana Quijano-Roy, Brigitte Estournet, Ana Ferreiro, Pascale Guicheney, James I. Manson, Andrew J. Kornberg, Lloyd K. Shield, Kathryn N. North

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

13

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. M. Salih, Susana Quijano-Roy, Sylvie Marchand, Molham M. Al Rayess, Maowia M. Mukhtar, Jon A. Urtizberea, Siegfried Labeit, Pascale Guicheney, France Leturcq, Mathias Ga

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 1.35 MB

english, 2007

14

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G. Brunner, Pascale Guicheney, Hans van Bokhoven

Journal:

Year:

2006

Language:

english

File:

PDF, 269 KB

english, 2006

15

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

Baijayanta Maiti, Sandrine Arbogast, Valérie Allamand, Mark W. Moyle, Christine B. Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin M. Flanigan, Michael T. Howard

Journal:

Year:

2009

Language:

english

File:

PDF, 226 KB

english, 2009

16

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

Marc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, Jorge A. Bevilacqua, Adrien Herledan, Vehary Sakanyan, Andoni Urtizberea, Luis Cartier, Norma B. Romero, Pascale Guicheney

Journal:

Year:

2009

Language:

english

File:

PDF, 427 KB

english, 2009

17

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

Nathalie Roux-Buisson, John Rendu, Isabelle Denjoy, Pascale Guicheney, Alice Goldenberg, Nadine David, Laurence Faivre, Olivier Barthez, Gian Antonio Danieli, Isabelle Marty, Joel Lunardi, Julien Faur

Journal:

Year:

2011

Language:

english

File:

PDF, 179 KB

english, 2011

18

Mutational spectrum in the Ca2+-activated cation channel gene TRPM4 in patients with cardiac conductance disturbances

Birgit Stallmeyer, Sven Zumhagen, Isabelle Denjoy, Guillaume Duthoit, Jean-Louis Hébert, Xavier Ferrer, Svetlana Maugenre, Wilhelm Schmitz, Uwe Kirchhefer, Ellen Schulze-Bahr, Pascale Guicheney, Eric

Journal:

Year:

2012

Language:

english

File:

PDF, 391 KB

english, 2012

19

Inter-laboratory comparisons of assessment of the allergenic potential of proteins in mice

C. Herouet-Guicheney, H. Aldemir, R. Bars, D. de Barbeyrac, P. Kennel, D. Rouquié, B. U. Stahl, I. Kimber, R. J. Dearman

Journal:

Journal of Applied Toxicology

Year:

2009

Language:

english

File:

PDF, 400 KB

english, 2009

20

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the α3(VI) N10-N7 domains

Stefano Squarzoni, Patrizia Sabatelli, Natascha Bergamin, Pascale Guicheney, Ercan Demir, Luciano Merlini, Giovanna Lattanzi, Andrea Ognibene, Cristina Capanni, Elisabetta Mattioli, Marta Columbaro, P

Journal:

Journal of Cellular Physiology

Year:

2006

Language:

english

File:

PDF, 461 KB

english, 2006

21

Multivariate analysis methods to tag b-quark events at LEP/SLC

B. Brandl, A. Falvard, C. Guicheney, P. Henrard, J. Jousset, J. Proriol

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1993

Language:

english

File:

PDF, 746 KB

english, 1993

22

A PMT-Block test bench

P. Adragna, A. Antonaki, I. Boudagov, V. Cavasinni, D. Costanzo, T. Del Prete, A. Dotti, D. Fassouliotis, V. Giakoumopoulou, N. Giokaris, C. Guicheney, E. Karali, J. Khubua, M. Lebessi, A. Lupi, A. Ma

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

2006

Language:

english

File:

PDF, 1.40 MB

english, 2006

23

Assessment of protein allergenic potential in mice: Inter-laboratory comparisons

Rebecca J. Dearman, Corinne Herouet-Guicheney, Philippe Kennel, David Rouquié, Ian Kimber

Journal:

Year:

2006

Language:

english

File:

PDF, 59 KB

english, 2006

24

Human synemin gene generates splice variants encoding two distinct intermediate filament proteins

Matthias Titeux, Valérie Brocheriou, Zhigang Xue, Jie Gao, Jean-François Pellissier, Pascale Guicheney, Denise Paulin, Zhenlin Li

Journal:

Year:

2001

Language:

english

File:

PDF, 2.32 MB

english, 2001

25

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

Perrine Castets, Svetlana Maugenre, Corine Gartioux, Mathieu Rederstorff, Alain Krol, Alain Lescure, Shahragim Tajbakhsh, Valérie Allamand, Pascale Guicheney

Journal:

BMC Developmental Biology

Year:

2009

Language:

english

File:

PDF, 1.51 MB

english, 2009

26

Risk assessment of biotechnology products

Corinne Herouet-Guicheney

Journal:

Clinical and Translational Allergy

Year:

2011

Language:

english

File:

PDF, 197 KB

english, 2011

27

Plasma catecholamines in conscious rats: Influence of sodium, stress and heredity

Monique De Mendonca, Pascale Guicheney, Marie-Laure Grichois, D. Ben-Ishay, P. Meyer

Journal:

Cellular and Molecular Life Sciences

Year:

1981

Language:

english

File:

PDF, 335 KB

english, 1981

28

Dynamin 2 and human diseases

Anne-Cécile Durieux, Bernard Prudhon, Pascale Guicheney, Marc Bitoun

Journal:

Journal of Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 380 KB

english, 2010

29

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy

Isam Naom, Mariella D’Alessandro, Caroline Sewry, Alessandra Ferlini, Haluk Topaloglu, Anne Helbling-Leclerc, Pascale Guicheney, Ketty Schwartz, Zuhal Akcoren, Victor Dubowitz, F. Muntoni

Journal:

Year:

1997

Language:

english

File:

PDF, 387 KB

english, 1997

30

NewFKRPmutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, NormaB. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Journal:

Year:

2004

Language:

english

File:

PDF, 768 KB

english, 2004

31

Application of neural networks and cellular automata to interpretation of calorimeter data

V. Breton, H. Fonvieille, P. Grenier, C. Guicheney, J. Jousset, Y. Roblin, F. Tamin

Journal:

Nuclear Instruments and Methods in Physics Research Section A: Accelerators, Spectrometers, Detectors and Associated Equipment

Year:

1995

Language:

english

File:

PDF, 764 KB

english, 1995

32

Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

J. A. Bevilacqua, N. Monnier, M. Bitoun, B. Eymard, A. Ferreiro, S. Monges, F. Lubieniecki, A. L. Taratuto, A. Laquerrière, K. G. Claeys, I. Marty, M. Fardeau, P. Guicheney, J. Lunardi, N. B. Romero

Journal:

Neuropathology and Applied Neurobiology

Year:

2011

Language:

english

File:

PDF, 1.83 MB

english, 2011

33

Solubilization of Active Brain α1-Adrenoceptors by a Zwitterionic Detergent

Pascale Guicheney, Alain Rappaport, Dominique Marcel

Journal:

Journal of Neurochemistry

Year:

1983

Language:

english

File:

PDF, 509 KB

english, 1983

34

10.1038/1765

Vicart, Patrick, Caron, Anne, Guicheney, Pascale, Li, Zhenlin, Prévost, Marie-Christine, Faure, Armelle, Chateau, Danielle, Chapon, Françoise, Tomé, Fernando, Dupret, Jean-Marie, Paulin, Denise, Farde

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 260 KB

english, 1998

35

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

Carrier, L., Hengstenberg, C., Beckmann, J. S., Guicheney, P., Dufour, C., Bercovici, J., Dausse, E., Berebbi-Bertrand, I., Wisnewsky, C., Pulvenis, D.

Journal:

Nature Genetics

Year:

1993

File:

PDF, 319 KB

1993

36

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome

Neyroud, Nathalie, Denjoy, Isabelle, Donger, Claire, Gary, Françoise, Villain, Elisabeth, Leenhardt, Antoine, Benali, Karim, Schwartz, Ketty, Coumel, Philippe, Guicheney, Pascale

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 243 KB

english, 1998

37

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

Gouas, Laetitia, Nicaud, Viviane, Berthet, Myriam, Forhan, Anne, Tiret, Laurence, Balkau, Beverley, Guicheney, Pascale

Journal:

European Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 139 KB

english, 2005

38

Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects

Gouas, L, Nicaud, V, Chaouch, S, Berthet, M, Forhan, A, Tichet, J, Tiret, L, Balkau, B, Guicheney, P

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 88 KB

english, 2007

39

The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands

Hayashi, M., Denjoy, I., Hayashi, M., Extramiana, F., Maltret, A., Roux-Buisson, N., Lupoglazoff, J.-M., Klug, D., Maury, P., Messali, A., Guicheney, P., Leenhardt, A.

Journal:

Year:

2012

Language:

english

File:

PDF, 329 KB

english, 2012

40

Heart rate influences on repolarization duration and morphology in symptomatic versus asymptomatic KCNQ1 mutation carriers

Fabrice Extramiana, Isabelle Denjoy, Fabio Badilini, Iheb Chabani, Nathalie Neyroud, Myriam Berthet, Véronique Fressard, Pascale Guicheney, Philippe Beaufils, Antoine Leenhardt, Philippe Coumel, Pierr

Journal:

The American Journal of Cardiology

Year:

2005

Language:

english

File:

PDF, 134 KB

english, 2005

41

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, Michèle Mayer, Svetlana Maugenre, Pascale Richard, Carole Berard, Louis Viollet, Bruno Leheup, Pascale Guicheney, Jean-Marc Pinard, Brigitte Est

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 574 KB

english, 2006

42

Murine models for evaluating the allergenicity of novel proteins and foods

Hatice Aldemir, Rémi Bars, Corinne Herouet-Guicheney

Journal:

Regulatory Toxicology and Pharmacology

Year:

2009

Language:

english

File:

PDF, 180 KB

english, 2009

43

Safety evaluation of the double mutant 5-enol pyruvylshikimate-3-phosphate synthase (2mEPSPS) from maize that confers tolerance to glyphosate herbicide in transgenic plants

Corinne Herouet-Guicheney, David Rouquié, Martine Freyssinet, Thomas Currier, Aris Martone, Junguo Zhou, Elizabeth E.M. Bates, Jean-Marc Ferullo, Koen Hendrickx, Dominique Rouan

Journal:

Regulatory Toxicology and Pharmacology

Year:

2009

Language:

english

File:

PDF, 628 KB

english, 2009

44

Review of animal models designed to predict the potential allergenicity of novel proteins in genetically modified crops

G.S. Ladics, L.M.J. Knippels, A.H. Penninks, G.A. Bannon, R.E. Goodman, C. Herouet-Guicheney

Journal:

Regulatory Toxicology and Pharmacology

Year:

2010

Language:

english

File:

PDF, 335 KB

english, 2010

45

Evaluating biological variation in non-transgenic crops: Executive summary from the ILSI Health and Environmental Sciences Institute workshop, November 16–17, 2009, Paris, France

Nancy Doerrer, Gregory Ladics, Scott McClain, Corinne Herouet-Guicheney, Lars K. Poulsen, Laura Privalle, Nicola Stagg

Journal:

Regulatory Toxicology and Pharmacology

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

46

Investigation of endogenous soybean food allergens by using a 2-dimensional gel electrophoresis approach

David Rouquié, Annabelle Capt, William H. Eby, Vaithilingam Sekar, Corinne Hérouet-Guicheney

Journal:

Regulatory Toxicology and Pharmacology

Year:

2010

Language:

english

File:

PDF, 711 KB

english, 2010

47

Bioinformatics and the allergy assessment of agricultural biotechnology products: Industry practices and recommendations

Gregory S. Ladics, Robert F. Cressman, Corinne Herouet-Guicheney, Rod A. Herman, Laura Privalle, Ping Song, Jason M. Ward, Scott McClain

Journal:

Regulatory Toxicology and Pharmacology

Year:

2011

Language:

english

File:

PDF, 448 KB

english, 2011

48

Heat stability, its measurement, and its lack of utility in the assessment of the potential allergenicity of novel proteins

Laura Privalle, Gary Bannon, Rod Herman, Gregory Ladics, Scott McCLain, Nicola Stagg, Jason Ward, Corinne Herouet-Guicheney

Journal:

Regulatory Toxicology and Pharmacology

Year:

2011

Language:

english

File:

PDF, 168 KB

english, 2011

49

Platelet serotonin content and plasma tryptophan in peri- and postmenopausal women: variations with plasma oestrogen levels and depressive symptoms

P. GUICHENEY, D. LÉGER, J. BARRAT, R. TRÉVOUX, B. DE LIGNIÈRES, P. ROQUES, J. P. GARNIER, P. BOYER, J. GRENIER, C. DREUX, P. MEYER

Journal:

European Journal of Clinical Investigation

Year:

1988

Language:

english

File:

PDF, 700 KB

english, 1988

50

A Centronuclear Myopathy – Dynamin 2 Mutation Impairs Autophagy in Mice

Anne-Cécile Durieux, Stéphane Vassilopoulos, Jeanne Lainé, Bodvaël Fraysse, Laura Briñas, Bernard Prudhon, Josiane Castells, Damien Freyssenet, Gisèle Bonne, Pascale Guicheney, Marc Bitoun

Journal:

Year:

2012

Language:

english

File:

PDF, 19.78 MB

english, 2012