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101

O.17 Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping

N. Wein, A. Avril, M. Krahn, C. Navarro, F. Barthelemy, S. Courrier, F. Leturcq, L. Garcia, M. Bartoli, N. Lévy

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 38 KB

english, 2010

102

Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America

Luis Vernengo, Jorge Oliveira, Martin Krahn, Emilia Vieira, Rosário Santos, Luisa Carrasco, Luís Negrão, Ana Panuncio, France Leturcq, Veronique Labelle, Elsa Bronze-da-Rocha, Rosario Mesa, Carlos Piz

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 1.27 MB

english, 2011

103

P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

D. Avila-Smirnow, S. Quijano-Roy, V. Allamand, G. Bonne, V. Biancalana, O. Dubourg, N. Essid, A. Ferreiro, P. Guicheney, C. Lebreton, M. Hamida, C. Ioos, F. Leturcq, N. Monnier, R. Rubinsztajn, N.B. R

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

104

P2.49 Myopathies with mutations in anoctamin 5: Phenotype and gene mutations in a French cohort

A. Behin, P. Laforêt, M. Cossée, N. Deburgrave, L. Orhant, J.C. Kaplan, T. Stojkovic, F. Leturcq, B. Eymard

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

105

P2.43 Revisiting X-linked Emery-Dreifuss muscular dystrophy. New insights into an old story

R. Ben Yaou, C. Beugnet, K. Chikhaoui, D. Hamroun, J.C. Kaplan, C. Béroud, G. Bonne, F. Leturcq, F. French EDMD network

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

106

P2.31 LGMD 1C: Difficulty in diagnosis

S. Schaeffer, M. Krahn, F. Leturcq, N. Romero, J.P. Simon, G. Landemore, F.N. Chapon

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

107

P2.56 Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South America

L. Vernengo, J. Oliveira, M. Krahn, E. Vieira, R. Santos, L. Carrasco, L. Negrão, L. Panuncio, F. Leturcq, V. Labelle, E. Bronze-da-Rocha, R. Mesa, C. Pizzarossa, N. Lévy, M.M. Rodriguez

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 49 KB

english, 2011

108

Une anomalie vasculaire asymptomatique

T. Leturcq, L. Tselikas, J.-A. Tirolien, M. Gain, J. Cabane, K.-P. Tiev

Journal:

La Revue de Médecine Interne

Year:

2010

Language:

french

File:

PDF, 223 KB

french, 2010

109

Des poumons asymétriques

T. Leturcq, M. Gain, K.P. Tiev, C. Tolédano, L. Josselin, J. Cabane, A. Kettaneh

Journal:

La Revue de Médecine Interne

Year:

2010

Language:

french

File:

PDF, 216 KB

french, 2010

110

Essai de phase 1 de thérapie génique, escalade de doses d’un AAV1–γ-Sarcoglycane, chez neuf patients dystrophie des ceintures de type 2C

S. Herson, F. Hentati, A. Rigolet, N. Romero, A. Behin, F. Leturcq, C. Masurier, B. Eymard, D. Caizergues, T. Voït, O. Benveniste

Journal:

La Revue de Médecine Interne

Year:

2010

Language:

french

File:

PDF, 72 KB

french, 2010

111

Initial and long-term dissolution rates of aluminosilicate glasses enriched with Ti, Zr and Nd

G. Leturcq, G. Berger, T. Advocat, E. Vernaz

Journal:

Chemical Geology

Year:

1999

Language:

english

File:

PDF, 2.60 MB

english, 1999

112

Hétérogéneité clinique et critères pronostiques de la myopathie de Duchenne

I. Desguerre, M. Mayer, C. Christov, F. Leturcq, J. Chelly, R.-K. Gherardi

Journal:

Archives de Pédiatrie

Year:

2009

Language:

french

File:

PDF, 214 KB

french, 2009

113

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

Norma Beatriz Romero, Pascale De Lonlay, Stéphane Llense, France Leturcq, Guy Touati, J-Andoni Urtizberea, Jean Marie Saudubray, Arnold Munnich, Jean Claude Kaplan, Dominique Récan

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 576 KB

english, 2001

114

From adhalinopathies to alpha-sarcoglycanopathies: An overview

M. Jeanpierre, A. Carrié, F. Piccolo, F. Leturcq, K. Azibi, C. De Toma, C. Beldjord, L. Merlini, T. Voit, N. Romero, Y. Sunada, F.M.S. Tomé, M. Fardeau, K.P. Campbell, J.-C. Kaplan

Journal:

Neuromuscular Disorders

Year:

1996

Language:

english

File:

PDF, 273 KB

english, 1996

115

A point mutation in the glycerol kinase gene associated with a deletion in the dystrophin gene in a familial X-linked muscular dystrophy: non-contiguous gene syndrome involving Becker muscular dystrophy and glycerol kinase loci

Norma Beatriz Romero, Dominique Récan, Odile Rigal, France Leturcq, Stéphane Llense, Jean-Claude Barbot, Nathalie Deburgrave, Marie Armelle Cheval, Françoise Deniau, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 308 KB

english, 1997

116

Prevalence of Becker muscular dystrophy in south west of France

X. Ferrer, P. Gaïda, E. Hermosilla, D. Fontan, F. Leturcq, D. Recan, M. Coquet, A. Arnaud, A. Lagueny, J. Julien

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 132 KB

english, 1997

117

Genetic and allelic heterogeneity of LGMD in North Africa

K. Azibi, M. Chaouch, A. Reghis, F. El Kerch, A. Sbiti, A. Sefiani, F. Leturcq, M. Jeanpierre, A. Carrié, F. Piccolo, C. Beldjord, J.-C. Kaplan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

118

A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency

D. Récan, S. Llense, J.-C. Barbot, F. Leturcq, N. Deburgrave, J.-M. Dupont, P. Warrot, C. Giraudet, F. Fraisse, D. Amsallem, J. Bensaid, J.A. Urtizberea, G.E. Morris, J.-C. Kaplan

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 130 KB

english, 1997

119

Is the del521T mutation in the gamma-sarcoglycan gene a founder mutation in Mediterranean countries?

F. Leturcq, K. Azibi, F. Piccolo, N. Deburgrave, V. Marin, C. de Toma, M. Chaouch, A. Reghis, F. El Kerch, A. Sefiani, A. Sbiti, J-C. Kaplan, M. Jeanpierre

Journal:

Neuromuscular Disorders

Year:

1997

Language:

english

File:

PDF, 128 KB

english, 1997

120

Altération en présence d'argile humide à 70°C de céramiques à base de Ti et Zr, de type Synroc

Gilles Leturcq, Gilles Berger, Thierry Advocat, Jacques Lacombe, Eric Vance

Journal:

Comptes Rendus de l'Académie des Sciences - Series IIA - Earth and Planetary Science

Year:

1998

Language:

english

File:

PDF, 399 KB

english, 1998

121

On a Semianalytic Method for Solving Laplace's Equation

Munoz-Yague, Antonio, Leturcq, Philippe

Journal:

IEEE Transactions on Industry Applications

Year:

1978

Language:

english

File:

PDF, 2.14 MB

english, 1978

122

A phase I trial of adeno-associated virus serotype 1- -sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C

Herson, S., Hentati, F., Rigolet, A., Behin, A., Romero, N. B., Leturcq, F., Laforet, P., Maisonobe, T., Amouri, R., Haddad, H., Audit, M., Montus, M., Masurier, C., Gjata, B., Georger, C., Cherai, M.

Journal:

Year:

2012

Language:

english

File:

PDF, 686 KB

english, 2012

123

A Naturally Occurring Human Minidysferlin Protein Repairs Sarcolemmal Lesions in a Mouse Model of Dysferlinopathy

Krahn, M., Wein, N., Bartoli, M., Lostal, W., Courrier, S., Bourg-Alibert, N., Nguyen, K., Vial, C., Streichenberger, N., Labelle, V., DePetris, D., Pecheux, C., Leturcq, F., Cau, P., Richard, I., Lev

Journal:

Science Translational Medicine

Year:

2010

Language:

english

File:

PDF, 969 KB

english, 2010

124

Franck–Condon blockade in suspended carbon nanotube quantum dots

Leturcq, Renaud, Stampfer, Christoph, Inderbitzin, Kevin, Durrer, Lukas, Hierold, Christofer, Mariani, Eros, Schultz, Maximilian G., von Oppen, Felix, Ensslin, Klaus

Journal:

Year:

2009

Language:

english

File:

PDF, 1.60 MB

english, 2009

125

Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy

Steven L. Roberds, France Leturcq, Valérie Allamand, Federica Piccolo, Marc Jeanpierre, Richard D. Anderson, Leland E. Lim, Jane C. Lee, Fernando M.S. Tomé, Norma B. Romero, Michel Fardeau, Jacques S.

Journal:

Year:

1994

Language:

english

File:

PDF, 1.79 MB

english, 1994

126

G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation

Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J.C., Laforet, P., Pénisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

127

Variable phenotype of del45-55 Becker patients correlated with nNOS mislocalization and RYR1 hypernitrosylation

Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J.-C., Laforet, P., Penisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, F.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 829 KB

english, 2012

128

Counting Statistics of Single Electron Transport in a Quantum Dot

Gustavsson, S., Leturcq, R., Simovič, B., Schleser, R., Ihn, T., Studerus, P., Ensslin, K., Driscoll, D. C., Gossard, A. C.

Journal:

Physical Review Letters

Year:

2006

Language:

english

File:

PDF, 458 KB

english, 2006

129

Inhomogeneous Si-doping of gold-seeded InAs nanowires grown by molecular beam epitaxy

Rolland, Chloé, Caroff, Philippe, Coinon, Christophe, Wallart, Xavier, Leturcq, Renaud

Journal:

Applied Physics Letters

Year:

2013

Language:

english

File:

PDF, 913 KB

english, 2013

130

Persistent enhancement of the carrier density in electron irradiated InAs nanowires

Durand, Corentin, Berthe, Maxime, Makoudi, Younes, Nys, Jean-Philippe, Leturcq, Renaud, Caroff, Philippe, Grandidier, Bruno

Journal:

Year:

2013

Language:

english

File:

PDF, 785 KB

english, 2013

131

Probing the Kondo Density of States in a Three-Terminal Quantum Ring

Leturcq, R., Schmid, L., Ensslin, K., Meir, Y., Driscoll, D. C., Gossard, A. C.

Journal:

Physical Review Letters

Year:

2005

Language:

english

File:

PDF, 862 KB

english, 2005

132

Frequency-Selective Single-Photon Detection Using a Double Quantum Dot

Gustavsson, S., Studer, M., Leturcq, R., Ihn, T., Ensslin, K., Driscoll, D. C., Gossard, A. C.

Journal:

Physical Review Letters

Year:

2007

Language:

english

File:

PDF, 1.02 MB

english, 2007

133

Wood preservation (carbon sequestration) or wood burning (fossil-fuel substitution), which is better for mitigating climate change?

Philippe Leturcq

Journal:

Annals of Forest Science

Year:

2014

Language:

english

File:

PDF, 479 KB

english, 2014

134

Phase I Study of Dystrophin Plasmid-Based Gene Therapy in Duchenne/Becker Muscular Dystrophy

Romero, Norma B., Braun, Serge, Benveniste, Olivier, Leturcq, France, Hogrel, Jean-Yves, Morris, Glenn E., Barois, Annie, Eymard, Bruno, Payan, Christine, Ortega, Véronique, Boch, Anne-Laure, Lejean,

Journal:

Human Gene Therapy

Year:

2004

Language:

english

File:

PDF, 363 KB

english, 2004

135

Antigen Presentation and T Cell Development in H2-M-Deficient Mice

Fung-Leung, W.-P., Surh, C. D., Liljedahl, M., Pang, J., Leturcq, D., Peterson, P. A., Webb, S. R., Karlsson, L.

Journal:

Year:

1996

Language:

english

File:

PDF, 786 KB

english, 1996

136

Relationship between soluble CD14, lipopolysaccharide binding protein, and the alveolar inflammatory response in patients with acute respiratory distress syndrome.

Martin, T R, Rubenfeld, G D, Ruzinski, J T, Goodman, R B, Steinberg, K P, Leturcq, D J, Moriarty, A M, Raghu, G, Baughman, R P, Hudson, L D

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

1997

Language:

english

File:

PDF, 897 KB

english, 1997

137

P.5.7 Limb-girdle muscular dystrophy type 2E: Clinical, genetic and histopathological features of 27 European patients

Laforêt, P., Semplicini, C., Dahlqvist, J.R., Eymard, B., Bello, L., Witting, N., Stojkovic, T., Angelini, C., Duno, M., Leturcq, F., Carlier, R.Y., Vissing, J., Pegoraro, E.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 58 KB

english, 2013

138

Expression of dystrophin-associated proteins in dystrophin-positive muscle fibers (revertants) in Duchenne muscular dystrophy

MATSUMURA, K, TOME, F, COLLIN, H, LETURCQ, F, JEANPIERRE, M, KAPLAN, J, FARDEAU, M, CAMPBELL, K

Journal:

Neuromuscular Disorders

Year:

1994

Language:

english

File:

PDF, 1.57 MB

english, 1994

139

P.20.14 Non ambulant patients with deletion treatable by exon skipping 53 present a more severe phenotype than the general Duchenne population

Servais, L., Seferian, A., Ben Yahou, R., Leturcq, F., Zehrouni, K., Benali, M., Decostre, V., Delahais, V., Butoianu, N., Cuisset, J.M., Cances, C., Le Moing, A.G., Laugel, V., Klein, A., Sabouraud,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

140

J - 5 Le gène POMT2 est impliqué dans les dystrophies musculaires congénitales (CMD) avec microcéphalie et retard mental

Bouchet, C., Yanagisawa, A., Peter, Y., Van den Bergh, K., Cuisset, J.M., Viollet, L., Leturcq, F., Romero, N.B., Quijano-Roy, S., Fardeau, M., Seta, N., Guicheney, P.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 58 KB

french, 2007

141

Notes, Short Comments, and Answers to Correspondents.

Bouchet, C., Yanagisawa, A., Peter, Y., Van den Bergh, K., Cuisset, J.M., Viollet, L., Leturcq, F., Romero, N.B., Quijano-Roy, S., Fardeau, M., Seta, N., Guicheney, P.

Journal:

Year:

1873

Language:

english

File:

PDF, 636 KB

english, 1873

142

Les dysferlinopathies : aspects phénotypiques et génétiques

Nguyen, K., Bassez, G., Figarella-Branger, D., Leturcq, F., Eymard, B., Lévy, N., Pouget, J.

Journal:

Revue Neurologique

Year:

2004

Language:

french

File:

PDF, 67 KB

french, 2004

143

Un curieux infarctus

Lazar, A., de Broucker, T., Leturcq, T.

Journal:

Pratique Neurologique - FMC

Year:

2012

Language:

french

File:

PDF, 376 KB

french, 2012

144

Les dysferlinopathies : aspects phénotypiques et génétiques

Nguyen, K., Bassez, G., Figarella-Branger, D., Leturcq, F., Eymard, B., Lévy, N., Pouget, J.

Journal:

Revue Neurologique

Year:

2004

Language:

french

File:

PDF, 33 KB

french, 2004

145

La gamma-sarcoglycanopathie dans l’EST algérien

Dalichaouche, I., Sifi, Y., Sifi, K., Abadi, N., Leturcq, F., Hamri, A., Rouabah, L.

Journal:

Revue Neurologique

Year:

2014

File:

PDF, 194 KB

2014

146

Anoctamin 5 myopathy: More patients, more phenotypes

Behin, A., Leturcq, F., Cossée, M., Wahbi, K., Deburgrave, N., Bécane, H.-M., Carlier, R.-Y., Laforêt, P., Stojkovic, T., Carlier, P., Eymard, B.

Journal:

Journal of the Neurological Sciences

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

147

Dilated cardiomyopathy in patients with mutations in anoctamin 5

Wahbi, K., Béhin, A., Bécane, H.M., Leturcq, F., Cossée, M., Laforêt, P., Stojkovic, T., Carlier, P., Toussaint, M., Gaxotte, V., Cluzel, P., Eymard, B., Duboc, D.

Journal:

International Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 164 KB

english, 2013

148

Transferrin Receptor Is Negatively Modulated by the Hemochromatosis Protein HFE: Implications for Cellular Iron Homeostasis

Luisa Salter-Cid, Anders Brunmark, Yuanhao Li, Didier Leturcq, Per A. Peterson, Michael R. Jackson and Young Yang

Journal:

Proceedings of the National Academy of Sciences

Year:

1999

Language:

english

File:

PDF, 1.31 MB

english, 1999

149

Nd- and Ce-doped ceramic-glass composites: chemical durability under aqueous conditions and Surface alteration in a moist clay medium at 90°C

Mcglinn, P.J., Advocat, T., Loi, E., Leturcq, G., Mestre, J.P.

Journal:

MRS Proceedings

Year:

2000

Language:

english

File:

PDF, 4.35 MB

english, 2000

150

G.P.281

Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J.A., Penisson-Besnier, I., Nadaj Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Yaou, R. Ben, Nelson, I., Arné-Bes, M

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 59 KB

english, 2014