Search Results - "Guicheney, P"

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients by Postma, A V, Denjoy, I, Kamblock, J, Alders, M, Lupoglazoff, J-M, Vaksmann, G, Dubosq-Bidot, L, Sebillon, P, Mannens, M M A M, Guicheney, P, Wilde, A A M

“…Background: The aim of the study was to assess underlying genetic cause(s), clinical features, and response to therapy in catecholaminergic polymorphic…”
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization by Bevilacqua, J. A., Monnier, N., Bitoun, M., Eymard, B., Ferreiro, A., Monges, S., Lubieniecki, F., Taratuto, A. L., Laquerrière, A., Claeys, K. G., Marty, I., Fardeau, M., Guicheney, P., Lunardi, J., Romero, N. B.

“…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,…”
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Brain involvement in FKRP-related muscular dystrophy by Richard, P, Terki, N, Ahmed, M. Ait-Kaci, Guicheney, P

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Low incidence of cardiac events with β-blocking therapy in children with long QT syndrome by Villain, E., Denjoy, I., Lupoglazoff, J.M., Guicheney, P., Hainque, B., Lucet, V., Bonnet, D.

“…Aims To evaluate the effect of beta-blockers in children with long QT syndrome (LQTS) we reviewed the outcome of 122 patients (pts). Methods LQTS was diagnosed…”
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A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION by BITOUN, M, BEVILACQUA, J. A, EYMARD, B, PRUDHON, B, FARDEAU, M, GUICHENEY, P, ROMERO, N. B

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New POMT2 mutations causing congenital muscular dystrophy : Identification of a founder mutation by YANAGISAWA, A, BOUCHET, C, GUICHENEY, P, VAN DEN BERGH, P. Y. K, CUISSET, J.-M, VIOLLET, L, LETURCQ, F, ROMERO, N. B, QUIJANO-ROY, S, FARDEAU, M, SETA, N

“…Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) with autosomal recessive inheritance, often associated with CNS and ocular…”
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Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern by Deconinck, N, Dion, E, Yaou, R. Ben, Ferreiro, A, Eymard, B, Briñas, L, Payan, C, Voit, T, Guicheney, P, Richard, P, Allamand, V, Bonne, G, Stojkovic, T

“…Abstract Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are…”
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Clinical and histologic findings in autosomal centronuclear myopathy by JEANNET, P.-Y, BASSEZ, G, EYMARD, B, LAFORET, P, URTIZBEREA, J. A, ROUCHE, A, GUICHENEY, P, FARDEAU, M, ROMERO, N. B

“…Centronuclear myopathy (CNM) is a congenital myopathy characterized by chains of centrally located nuclei in a large number of muscle fibers. Clinically, an…”
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Novel Mechanism for Brugada Syndrome: Defective Surface Localization of an SCN5A Mutant(R1432G) by Baroudi, Ghayath, Pouliot, Valerie, Denjoy, Isabelle, Guicheney, Pascale, Shrier, Alvin, Chahine, Mohamed

“…The SCN5A gene encodes the α subunitof the human heart sodium channel (hH1), which plays a critical role incardiac excitability. Mutations of SCN5A underlie…”
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G.P.145 by Monges, S, Lubieniecki, F, de Castro, F, Lafuente, V, Gonzalez, M, Reyes, G, Chertkoff, L, Quijano-Roy, S, Romero, N.B, Richard, P, Bonne, G, Guicheney, P, Sacolitti, M, Taratuto, A.L

“…Muscular dystrophy related to lamin A/C gene (LMNA/C) mutations is characterized by muscle weakness, joint contractures, dilated cardiomyopathy, and…”
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Different Atrial and Ventricular Resting Membrane Potentials May Explain the Phenotypical Variability of a Truncating SCN5A Mutation by Clatot, J, Ziyadeh-Isleem, A, Duchatelet, S, Gandjbakhch, E, Denjoy, I, Hidden-Lucet, F, Hatem, S.N, Coulombe, A, Neyroud, N, Deschênes, I, Guicheney, P

“…Background The SCN5A gene encodes for the alpha-subunit of the cardiac sodium channel. The cardiac sodium current INa is essential for generation and…”
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Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjects by GOUAS, L, NICAUD, V, CHAOUCH, S, BERTHET, M, FORHAN, A, TICHET, J, TIRET, L, BALKAU, B, GUICHENEY, P

“…Population-based association studies have identified several polymorphic variants in genes encoding ion channel subunits associated with the…”
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158th ENMC international workshop on congenital muscular dystrophy (Xth international CMD workshop) 8th–10th February 2008 Naarden, The Netherlands by Muntoni, F, Guicheney, P, Voit, T

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Genome-Wide Association Analysis Identifies 3 Common Variants Predisposing to Brugada Syndrome, a Rare Disease with High Risk of Sudden Cardiac Death by Barc, J, Bezzina, C, Mizusawa, Y, Remme, C, Gourraud, J, Verkerk, A, Schwartz, P, Guicheney, P, Antzelevitch, C, Schulze-Bahr, E, Behr, E, Tfelt-Hanson, J, Kaab, S, Watanabe, H, Horie, M, Makita, N, Shimizu, W, Roden, D, Christoffels, V, Gessler, M, Wilde, A, Probst, V, Schott, J, Dina, C, Redon, R

“…Background The Brugada syndrome (BrS) is considered a rare mendelian disorder with autosomal dominant transmission. BrS is associated with an increased risk of…”
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Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations by LUPOGLAZOFF, J. M, DENJOY, I, MAILLARD, G, COUMEL, P, GUICHENEY, P, BERTHET, M, NEYROUD, N, DEMAY, L, RICHARD, P, HAINQUE, B, VAKSMANN, G, KLUG, D, LEENHARDT, A

“…The 2 genes KCNQ1 (LQT1) and HERG (LQT2), encoding cardiac potassium channels, are the most common cause of the dominant long-QT syndrome (LQTS). In addition…”
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Giant axonal neuropathy: clinical and genetic study in six cases by Demir, E, Bomont, P, Erdem, S, Cavalier, L, Demirci, M, Kose, G, Muftuoglu, S, Cakar, A N, Tan, E, Aysun, S, Topcu, M, Guicheney, P, Koenig, M, Topaloglu, H

“…Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central…”
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Ehlers-Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies by Voermans, N.C., Jenniskens, G.J., Hamel, B.C., Schalkwijk, J., Guicheney, P., van Engelen, B.G.

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Homozygous SCN5A Mutation in Long-QT Syndrome With Functional Two-to-One Atrioventricular Block by Lupoglazoff, J.M, Cheav, T, Baroudi, G, Berthet, M, Denjoy, I, Cauchemez, B, Extramiana, F, Chahine, M, Guicheney, P

“…ABSTRACT—Heterozygous mutations in genes encoding cardiac ionic channel subunits KCNQ1, HERG, SCN5A, KCNE1, and KCNE2 are causally involved in the dominant…”
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Dynamin 2-related centronuclear myopathy: clinical, histological and genetic aspects of further patients and review of the literature by Jeub, M, Bitoun, M, Guicheney, P, Kappes-Horn, K, Strach, K, Druschky, K F, Weis, J, Fischer, D

“…Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy with characteristic histopathological findings of chains of centrally located…”
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Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype by Vuillaumier-Barrot, S, Quijano-Roy, S, Bouchet-Seraphin, C, Maugenre, S, Peudenier, S, Van den Bergh, P, Marcorelles, P, Avila-Smirnow, D, Chelbi, M, Romero, N.B, Carlier, R.Y, Estournet, B, Guicheney, P, Seta, N

“…Abstract Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene ( FKTN ). Outside Japan, FKTN…”
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