P. Guicheney: search on Z-Library

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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

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

Identification of a Mutation Near a Functional Site of the β cardiac myosin Heavy Chain Gene in a Family with Hypertrophic Cardiomyopathy

Cécile Dufour, Eric Dausse, Luc Fetler, Olivier Dubourg, Jean-Brieux Bouhour, Hans-Peter Vosberg, Pascale Guicheney, Michel Komajda, Ketty Schwartz

Journal:

Journal of Molecular and Cellular Cardiology

Year:

1994

File:

PDF, 388 KB

1994

14

Linkage analysis of adrenoceptor genes to familial hypertrophic cardiomyopathy

Christian Hengstenberg, Lucie Carrier, Pascale Guicheney, Laurence Faure, Olivier Dubourg, Michel Komajda, Ketty Schwartz

Journal:

Journal of Molecular and Cellular Cardiology

Year:

1992

Language:

english

File:

PDF, 110 KB

english, 1992

15

Evaluation of protein safety in the context of agricultural biotechnology

Bryan Delaney, James D. Astwood, Helen Cunny, Robin Eichen Conn, Corinne Herouet-Guicheney, Susan MacIntosh, Linda S. Meyer, Laura Privalle, Yong Gao, Joel Mattsson, Marci Levine

Journal:

Food and Chemical Toxicology

Year:

2008

Language:

english

File:

PDF, 356 KB

english, 2008

16

T.O. 3 Rescue of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a homozygous mutation in the selenocysteine codon of SEPN1

V. Allamand, P. Richard, C. Ledeuil, D. Chaigne, P. Guicheney, A. Krol, A. Lescure

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 48 KB

english, 2006

17

G.P.5.01 Inflammatory or ‘congenital myopathy’ type findings in muscle biopsies of patients with LMNA mutations

F. Lubieniecki, S. Monges, A. Dubrovsky, A. Stewart-Harris, V. Ruggieri, F. Barroso, G. Espada, M. Ferrea, M. Robertella, P. Richard, G. Bonne, N. Romero, P. Guicheney, M. Sacolitti, A. Taratuto

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

18

P.P.1 02 Combined approaches to diagnosis of congenital muscular dystrophies with α-dystroglycan hypoglycosylation

C. Bouchet, H. Manya, A. Yanagisawa, S. Maugenre, S. Quijano-Roy, B. Estournet, L. Merlini, H. Topaloglu, N.B. Romero, F. Leturcq, N. Seta, T. Endo, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 49 KB

english, 2006

19

C.P.4.11 Ragged red fibres finding in muscle biopsy of dynamin 2-related centronuclear myopathy

L. Pirra, A. Dubrovsky, M. Bitoun, P. Guicheney, N. Romero, M. Sacolitti, A. Taratuto

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

20

Similar IgE Binding to Soybean Proteins from a Genetically Modified Soybean Line, a Near-Isogenic Line and Three Other Non-GM Soybean Lines Using 10 Sera from Soybean Allergic Subjects

Panda, R., Capt, A., Herouet-Guicheney, C., Goodman, R.E.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 43 KB

english, 2012

21

Arythmies héréditaires associées aux canaux Kv (et autres canaux) cardiaques

Guicheney, P., Katthygnarath, D., Denjoy, I.

Journal:

Archives des Maladies du Coeur et des Vaisseaux - Pratique

Year:

2014

Language:

french

File:

PDF, 182 KB

french, 2014

22

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

23

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

24

P.P.1 03 A clinical, morphological and genetic study of congenital muscular dystrophies in Algeria

S. Makri, N. Terki, S. Belarbi, S. Assami, S. Maugenre, C. Gartioux, V. Allamand, P. Richard, N.B. Romero, M. Ait Kaci-Ahmed, D. Grid, P. Guicheney, M. Tazir

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

25

Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci

Beril Talim, Ana Ferreiro, Bru Cormand, Nicolas Vignier, Aytekin Oto, Safiye Göǧüş, Ayşenur Cila, Anna-Elina Lehesjoki, Helena Pihko, Pascale Guicheney, Haluk Topaloǧlu

Journal:

Neuromuscular Disorders

Year:

2000

Language:

english

File:

PDF, 2.49 MB

english, 2000

26

Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiency

Susana Quijano-Roy, Lucı́a Galan, Ana Ferreiro, Fawzia Cheliout-Héraut, Françoise Gray, Michel Fardeau, Annie Barois, Pascale Guicheney, Norma B Romero, Brigitte Estournet

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 503 KB

english, 2002

27

Reduced serotonin content and uptake in platelets from patients with essential hypertension : Is a ouabain-like factor involved?

Pascale Guicheney, Maryvonne Baudouin-Legros, Delphine Valtier, Philippe Meyer

Journal:

Thrombosis Research

Year:

1987

Language:

english

File:

PDF, 577 KB

english, 1987

28

Splicing Mutations in KCNQ1 : A Mutation Hot Spot at Codon 344 That Produces In Frame Transcripts

Murray, A., Donger, C., Fenske, C., Spillman, I., Richard, P., Dong, Y. B., Neyroud, N., Chevalier, P., Denjoy, I., Carter, N., Syrris, P., Afzal, A. R., Patton, M. A., Guicheney, P., Jeffery, S.

Journal:

Year:

1999

Language:

english

File:

PDF, 626 KB

english, 1999

29

Genotype-Phenotype Correlation in the Long-QT Syndrome : Gene-Specific Triggers for Life-Threatening Arrhythmias

Schwartz, P. J., Priori, S. G., Spazzolini, C., Moss, A. J., Vincent, G. M., Napolitano, C., Denjoy, I., Guicheney, P., Breithardt, G., Keating, M. T., Towbin, J. A., Beggs, A. H., Brink, P., Wilde, A

Journal:

Year:

2001

Language:

english

File:

PDF, 1.06 MB

english, 2001

30

Correlative SICM-FCM reveals changes in morphology and kinetics of endocytic pits induced by disease-associated mutations in dynamin

Ali, Tayyibah, Bednarska, Joanna, Vassilopoulos, Stéphane, Tran, Martin, Diakonov, Ivan A., Ziyadeh-Isleem, Azza, Guicheney, Pascale, Gorelik, Julia, Korchev, Yuri E., Reilly, Mary M., Bitoun, Marc, S

Journal:

The FASEB Journal

Year:

2019

File:

PDF, 2.39 MB

2019

31

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

32

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

33

A mutation in HERG Associated with Notched T waves in Long QT Syndrome

Eric Dausse, Myriam Berthet, Isabelle Denjoy, Xavier André-Fouet, Corrine Cruaud, Mohammed Bennaceur, Sabine Fauré, Philippe Coumel, Ketty Schwartz, Pascale Guicheney

Journal:

Journal of Molecular and Cellular Cardiology

Year:

1996

Language:

english

File:

PDF, 427 KB

english, 1996

34

À propos d'un cas de dystrophie musculaire congénitale de type occidental avec mutation ponctuelle dans le gène condant pour la mérosine

J.A. Urtizberea, B. Estournet-Mathiaud, A. Barois, F. Tomé, M. Fardeau, P. Guicheney

Journal:

Archives de Pédiatrie

Year:

1996

File:

PDF, 282 KB

1996

35

111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9–11 November 2002, Naarden, The Netherlands

Heinz Jungbluth, Alan Beggs, Carsten Bönnemann, Kate Bushby, Chantal Ceuterick-de Groote, Brigitte Estournet-Mathiaud, Nathalie Goemans, Pascale Guicheney, Alain Lescure, Joël Lunardi, Francesco Munto

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 160 KB

english, 2004

36

P.P.1 04 Algerian FKRP mutations causing MDC1C congenital muscular dystrophy with mental retardation

S. Makri, P. Richard, S. Maugenre, N. Terki, S. Quijano-Roy, S. Assami, N.B. Romero, M. Ait-Kaci, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

37

P.P.7 04 A homozygous COL6A1 splice site mutation in siblings with Ullrich congenital muscular dystrophy

S. Makri, V. Allamand, P. Richard, C. Gartioux, N. Terki, S. Maugenre, M. Ait-Kaci, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

38

Relative and Absolute Quantitation of Ten Allergens in Twenty Commercial Soybean Varieties Using Tandem Mass Spectrometry

Houston, N.L., Lee, D.G., Stevenson, S.E., Ladics, G.S., Bannon, G.A., McClain, S., Privalle, L., Stagg, N., Herouet-Guicheney, C., Thelen, J.J.

Journal:

Journal of Allergy and Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 41 KB

english, 2011

39

DECREASE OF PLATELET SEROTONIN CONTENT IN OVARIECTOMIZED FEMALE RATS

GUICHENEY, P., MARCEL, D.

Journal:

Year:

1984

Language:

english

File:

PDF, 277 KB

english, 1984

40

Brugada syndrome and fever: Genetic and molecular characterization of patients carrying mutations

KELLER, D, ROUGIER, J, KUCERA, J, BENAMMAR, N, FRESSART, V, GUICHENEY, P, MADLE, A, FROMER, M, SCHLAPFER, J, ABRIEL, H

Journal:

Cardiovascular Research

Year:

2005

Language:

english

File:

PDF, 794 KB

english, 2005

41

Platelet Serotonin and Blood Tryptophan in Spontaneously Hypertensive and Normotensive Wistar–Kyoto Rats

Guicheney, P., Baudouin-Legros, M., Garnier, J. P., Rogues, P., Dreux, C., Meyer, P.

Journal:

Journal of Cardiovascular Pharmacology

Year:

1985

File:

PDF, 137 KB

1985

42

Enhanced Cell Proliferation in Essential Hypertension

Baudouin-Legros, Maryvonne, Guicheney, Pascale, Meyer, Philippe

Journal:

Journal of Cardiovascular Pharmacology

Year:

1990

File:

PDF, 264 KB

1990

43

Proliferation and Na+/H+ Antiport Activity in Human Fibroblasts From Type I Diabetic Patients With Nephropathy

Soussan, Karen, Dausse, Eric, Hannedouche, Thierry, Timsit, José, Lemoult, Florence, Boitard, Christian, Grünfeld, Jean-Pierre, Guicheney, Pascale

Journal:

American Journal of Hypertension

Year:

1993

Language:

english

File:

PDF, 603 KB

english, 1993

44

Overexpression of the cardiac Na + channel in Scn5a deficient mice using AAVs

Doisne, N., Grauso, M., Mougenot, N., Clergue, M., Coulombe, A., Charpentier, F., Guicheney, P., Neyroud, N.

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2017

Language:

english

File:

PDF, 32 KB

english, 2017

45

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

46

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

47

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

48

G.O.2 A clinical and pathological study of congenital fibre type disproportion

N.F. Clarke, V. Gonzalez, A.J. Kornberg, L.K. Shield, J.I. Manson, R.L.L. Smith, A.H. Beggs, S. Arbuckle, A.J. Bourne, X. Dennett, I. Nonaka, P. Guicheney, A. Ferreiro, K.N. North

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

49

G.P.13.14 A new form of congenital myopathy with severe fibre immaturity

H. Amthor, S. Quijano-Roy, M. Mayer, K. Maincent, B. Estournet, J. Bataille, A. Essid, A. Lombes, P. Guicheney, M. Fardeau, K. Claeys, C. Rambaud, A. Gelot, G. Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

50

Evaluating the effect of food processing on the potential human allergenicity of novel proteins: Summary from a recent workshop

Corinne Herouet-Guicheney, Gregory Ladics, Clare Mills, Laura Privalle

Journal:

Toxicology Letters

Year:

2008

Language:

english

File:

PDF, 52 KB

english, 2008

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