AAAAAA

   
Results: 1-25 |
Results: 25
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
Authors: Moghadaszadeh, B Petit, N Jaillard, C Brockington, M Roy, SQ Merlini, L Romero, N Estournet, B Desguerre, I Chaigne, D Muntoni, F Topaloglu, H Guicheney, P
Citation: B. Moghadaszadeh et al., Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome, NAT GENET, 29(1), 2001, pp. 17-18
Long QT syndrome.
Authors: Lupoglazoff, JM Denjoy, I Guicheney, P Casasoprana, A Coumel, P
Citation: Jm. Lupoglazoff et al., Long QT syndrome., ARCH PED, 8(5), 2001, pp. 525-534
Congenital muscular dystrophy with primary partial laminin alpha 2 chain deficiency: Molecular study
Authors: He, Y Jones, KJ Vignier, N Morgan, G Chevallay, M Barois, A Estournet-Mathiaud, B Hori, H Mizuta, T Tome, FMS North, KN Guicheney, P
Citation: Y. He et al., Congenital muscular dystrophy with primary partial laminin alpha 2 chain deficiency: Molecular study, NEUROLOGY, 57(7), 2001, pp. 1319-1322
Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block
Authors: Lupoglazoff, JM Cheav, T Baroudi, G Berthet, M Denjoy, L Cauchemez, B Extramiana, F Chahine, M Guicheney, P
Citation: Jm. Lupoglazoff et al., Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block, CIRCUL RES, 89(2), 2001, pp. E16-E21
Novel mechanism forBrugada syndrome - Defective surface localization of anSCN5A mutant (R1432G)
Authors: Baroudi, G Pouliot, V Denjoy, I Guicheney, P Shrier, A Chahine, M
Citation: G. Baroudi et al., Novel mechanism forBrugada syndrome - Defective surface localization of anSCN5A mutant (R1432G), CIRCUL RES, 88(12), 2001, pp. E78-E83
Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations
Authors: Lupoglazoff, JM Denjoy, I Berthet, M Neyroud, N Demay, L Richard, P Hainque, B Vaksmann, G Klug, D Leenhardt, A Maillard, G Coumel, P Guicheney, P
Citation: Jm. Lupoglazoff et al., Notched T waves on Holter recordings enhance detection of patients with LQT2 (HERG) mutations, CIRCULATION, 103(8), 2001, pp. 1095-1101
Genotype-phenotype correlation in the long-QT syndrome - Gene-specific triggers for life-threatening arrhythmias
Authors: Schwartz, PJ Priori, SG Spazzolini, C Moss, AJ Vincent, GM Napolitano, C Denjoy, I Guicheney, P Breithardt, G Keating, MT Towbin, JA Beggs, AH Brink, P Wilde, AAM Toivonen, L Zareba, W Robinson, JL Timothy, KW Corfield, V Wattanasirichaigoon, D Corbett, C Haverkamp, W Schulze-Bahr, E Lehmann, MH Schwartz, K Coumel, P Bloise, R
Citation: Pj. Schwartz et al., Genotype-phenotype correlation in the long-QT syndrome - Gene-specific triggers for life-threatening arrhythmias, CIRCULATION, 103(1), 2001, pp. 89-95
Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping
Authors: Di Blasi, C He, Y Morandi, L Cornelio, F Guicheney, P Mora, M
Citation: C. Di Blasi et al., Mild muscular dystrophy due to a nonsense mutation in the LAMA2 gene resulting in exon skipping, BRAIN, 124, 2001, pp. 698-704
T wave abnormalities on Holter monitoring of congenital long QT syndrome: Phenotype marker of a mutation in LQT2 (HERG)
Authors: Lupoglazoff, JM Denjoy, I Berthet, M Hainque, B Vaksmann, G Klug, D Villain, E Lucet, V Guicheney, P Coumel, P
Citation: Jm. Lupoglazoff et al., T wave abnormalities on Holter monitoring of congenital long QT syndrome: Phenotype marker of a mutation in LQT2 (HERG), ARCH MAL C, 94(5), 2001, pp. 470-478
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan
Authors: Brockington, M Blake, DJ Prandini, P Brown, SC Torelli, S Benson, MA Ponting, CP Estournet, B Romero, NB Mercuri, E Voit, T Sewry, CA Guicheney, P Muntoni, F
Citation: M. Brockington et al., Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha 2 deficiency and abnormal glycosylation of alpha-dystroglycan, AM J HU GEN, 69(6), 2001, pp. 1198-1209
Genetic aspects in acquired long QT syndrome
Authors: Schulze-Bahr, E Denjoy, I Haverkamp, W Breithardt, G Guicheney, P
Citation: E. Schulze-bahr et al., Genetic aspects in acquired long QT syndrome, MYOCARDIAL REPOLARIZATION: FROM GENE TO BEDSIDE, 2001, pp. 333-341
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome
Authors: Villanova, M Mercuri, E Bertini, E Sabatelli, P Morandi, L Mora, M Sewry, C Brockington, M Brown, SC Ferreiro, A Maraldi, NM Toda, T Guicheney, P Merlini, L Muntoni, F
Citation: M. Villanova et al., Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome, NEUROMUSC D, 10(8), 2000, pp. 541-547
Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci
Authors: Talim, B Ferreiro, A Cormand, B Vignier, N Oto, A Gogus, S Cila, A Lehesjoki, AE Pihko, H Guicheney, P Topaloglu, H
Citation: B. Talim et al., Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci, NEUROMUSC D, 10(8), 2000, pp. 548-552
Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases
Authors: Ferreiro, A Estournet, B Chateau, D Romero, NB Laroche, C Odent, S Toutain, A Cabello, A Fontan, D dos Santos, HG Haenggeli, CA Bertini, E Urtizberea, JA Guicheney, P Fardeau, M
Citation: A. Ferreiro et al., Multi-minicore disease - Searching for boundaries: Phenotype analysis of 38 cases, ANN NEUROL, 48(5), 2000, pp. 745-757
Partial laminin alpha 2 chain deficiency in a patient with myopathy resembling inclusion body myositis
Authors: Di Blasi, C Mora, M Pareyson, D Farina, L Sghirlanzoni, A Vignier, N Blasevich, F Cornelio, F Guicheney, P Morandi, L
Citation: C. Di Blasi et al., Partial laminin alpha 2 chain deficiency in a patient with myopathy resembling inclusion body myositis, ANN NEUROL, 47(6), 2000, pp. 811-816
Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene
Authors: Fardeau, M Vicart, P Caron, A Chateau, D Chevallay, M Collin, H Chapon, F Duboc, D Eymard, B Tome, FMS Dupret, JM Paulin, D Guicheney, P
Citation: M. Fardeau et al., Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material with mutation of the alpha beta-cristallin gene, REV NEUROL, 156(5), 2000, pp. 497-504
Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes
Authors: Deschenes, I Baroudi, G Berthet, M Barde, I Chalvidan, T Denjoy, I Guicheney, P Chahine, M
Citation: I. Deschenes et al., Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes, CARDIO RES, 46(1), 2000, pp. 55-65
Novel mutations in KvLQT1 that affect I-ks activation through interactionswith Isk
Authors: Chouabe, C Neyroud, N Richard, P Denjoy, I Hainque, B Romey, G Drici, MD Guicheney, P Barhanin, J
Citation: C. Chouabe et al., Novel mutations in KvLQT1 that affect I-ks activation through interactionswith Isk, CARDIO RES, 45(4), 2000, pp. 971-980
Analysis of LAMA2 gene in merosin-deficient congenital dystrophy
Authors: Helbling-Leclerc, A Guicheney, P
Citation: A. Helbling-leclerc et P. Guicheney, Analysis of LAMA2 gene in merosin-deficient congenital dystrophy, METH MOL M, 43, 2000, pp. 199-218
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome
Authors: 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
Citation: N. Neyroud et al., Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome, CIRCUL RES, 84(3), 1999, pp. 290-297
C-terminal HERG mutations - The role of hypokalemia and a KCNQ1-associatedmutation in cardiac event occurrence
Authors: Berthet, M Denjoy, I Donger, C Demay, L Hammoude, H Klug, D Schulze-Bahr, E Richard, P Funke, H Schwartz, K Coumel, P Hainque, B Guicheney, P
Citation: M. Berthet et al., C-terminal HERG mutations - The role of hypokalemia and a KCNQ1-associatedmutation in cardiac event occurrence, CIRCULATION, 99(11), 1999, pp. 1464-1470
Splicing mutations in KCNQ1 - A mutation hot spot at codon 344 that produces in frame transcripts
Authors: Murray, A Donger, C Fenske, C Spillman, I Richard, P Dong, YB Neyroud, N Chevalier, P Denjoy, I Carter, N Syrris, P Afzal, AR Patton, MA Guicheney, P Jeffery, S
Citation: A. Murray et al., Splicing mutations in KCNQ1 - A mutation hot spot at codon 344 that produces in frame transcripts, CIRCULATION, 100(10), 1999, pp. 1077-1084
Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha 7 gene (ITGA7)
Authors: Vignier, N Moghadaszadeh, B Gary, F Beckmann, J Mayer, U Guicheney, P
Citation: N. Vignier et al., Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha 7 gene (ITGA7), BIOC BIOP R, 260(2), 1999, pp. 357-364
Congenital long QT syndrome: The value of genetics in assessing the prognosis
Authors: Denjoy, I Lupoglazoff, JM Donger, C Berthet, M Richard, P Neyroud, N Villain, E Lucet, V Coumel, P Guicheney, P
Citation: I. Denjoy et al., Congenital long QT syndrome: The value of genetics in assessing the prognosis, ARCH MAL C, 92(5), 1999, pp. 557-563
Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias
Authors: Mohammad-Panah, R Demolombe, S Neyroud, N Guicheney, P Kyndt, F van den Hoff, M Baro, I Escande, D
Citation: R. Mohammad-panah et al., Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias, AM J HU GEN, 64(4), 1999, pp. 1015-1023
Risultati: 1-25 |