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Items: 1 to 50 of 248

1.

Allele-specific silencing therapy for Dynamin 2-related dominant centronuclear myopathy.

Trochet D, Prudhon B, Beuvin M, Peccate C, Lorain S, Julien L, Benkhelifa-Ziyyat S, Rabai A, Mamchaoui K, Ferry A, Laporte J, Guicheney P, Vassilopoulos S, Bitoun M.

EMBO Mol Med. 2018 Feb;10(2):239-253. doi: 10.15252/emmm.201707988.

2.

Impaired excitation-contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy.

Kutchukian C, Szentesi P, Allard B, Trochet D, Beuvin M, Berthier C, Tourneur Y, Guicheney P, Csernoch L, Bitoun M, Jacquemond V.

J Physiol. 2017 Dec 15;595(24):7369-7382. doi: 10.1113/JP274990. Epub 2017 Nov 21.

PMID:
29071728
3.

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

González-Jamett AM, Baez-Matus X, Olivares MJ, Hinostroza F, Guerra-Fernández MJ, Vasquez-Navarrete J, Bui MT, Guicheney P, Romero NB, Bevilacqua JA, Bitoun M, Caviedes P, Cárdenas AM.

Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w.

4.

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy.

Fraysse B, Guicheney P, Bitoun M.

Biol Open. 2016 Nov 15;5(11):1691-1696. doi: 10.1242/bio.020263.

5.

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia.

Fujii Y, Itoh H, Ohno S, Murayama T, Kurebayashi N, Aoki H, Blancard M, Nakagawa Y, Yamamoto S, Matsui Y, Ichikawa M, Sonoda K, Ozawa T, Ohkubo K, Watanabe I, Guicheney P, Horie M.

Heart Rhythm. 2017 Jan;14(1):98-107. doi: 10.1016/j.hrthm.2016.10.015. Epub 2016 Oct 15.

6.

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.

Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D, Chatterjee K.

J Clin Invest. 2016 Mar 1;126(3):992-6. doi: 10.1172/JCI84747. Epub 2016 Feb 8.

7.

The genetics underlying acquired long QT syndrome: impact for genetic screening.

Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M.

Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28.

8.

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P.

Eur J Hum Genet. 2016 Aug;24(8):1160-6. doi: 10.1038/ejhg.2015.257. Epub 2015 Dec 16.

9.

A Common Mutation of Long QT Syndrome Type 1 in Japan.

Itoh H, Dochi K, Shimizu W, Denjoy I, Ohno S, Aiba T, Kimura H, Kato K, Fukuyama M, Hasagawa K, Schulze-Bahr E, Guicheney P, Horie M.

Circ J. 2015;79(9):2026-30. doi: 10.1253/circj.CJ-15-0342. Epub 2015 Jun 29.

10.

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

Hankiewicz K, Carlier RY, Lazaro L, Linzoain J, Barnerias C, Gómez-Andrés D, Avila-Smirnow D, Ferreiro A, Estournet B, Guicheney P, Germain DP, Richard P, Bulacio S, Mompoint D, Quijano-Roy S.

Muscle Nerve. 2015 Nov;52(5):728-35. doi: 10.1002/mus.24634. Epub 2015 Sep 14.

PMID:
25808192
11.

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium, Jamshidi Y.

Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17. Erratum in: Cardiovasc Res. 2016 May 1;110(1):3.

12.

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.

Béziau DM, Barc J, O'Hara T, Le Gloan L, Amarouch MY, Solnon A, Pavin D, Lecointe S, Bouillet P, Gourraud JB, Guicheney P, Denjoy I, Redon R, Mabo P, le Marec H, Loussouarn G, Kyndt F, Schott JJ, Probst V, Baró I.

Basic Res Cardiol. 2014;109(6):446. doi: 10.1007/s00395-014-0446-5. Epub 2014 Oct 24.

PMID:
25341504
13.

Endogenous glucuronyltransferase activity of LARGE or LARGE2 required for functional modification of α-dystroglycan in cells and tissues.

Inamori K, Willer T, Hara Y, Venzke D, Anderson ME, Clarke NF, Guicheney P, Bönnemann CG, Moore SA, Campbell KP.

J Biol Chem. 2014 Oct 10;289(41):28138-48. doi: 10.1074/jbc.M114.597831. Epub 2014 Aug 19.

14.

Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr.

Circ Cardiovasc Genet. 2014 Aug;7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10.

15.

A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P.

Heart Rhythm. 2014 Jun;11(6):1015-1023. doi: 10.1016/j.hrthm.2014.02.021. Epub 2014 Feb 25.

16.

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes.

Behr ER, Ritchie MD, Tanaka T, Kääb S, Crawford DC, Nicoletti P, Floratos A, Sinner MF, Kannankeril PJ, Wilde AA, Bezzina CR, Schulze-Bahr E, Zumhagen S, Guicheney P, Bishopric NH, Marshall V, Shakir S, Dalageorgou C, Bevan S, Jamshidi Y, Bastiaenen R, Myerburg RJ, Schott JJ, Camm AJ, Steinbeck G, Norris K, Altman RB, Tatonetti NP, Jeffery S, Kubo M, Nakamura Y, Shen Y, George AL Jr, Roden DM.

PLoS One. 2013 Nov 6;8(11):e78511. doi: 10.1371/journal.pone.0078511. eCollection 2013.

17.

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R.

Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Erratum in: Nat Genet. 2013 Nov;45(11):1409. Borggrefe, Martin [added]; Schimpf, Rainer [added].

18.

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, Ohno S, Fressart V, Monti MC, Crocamo C, Pedrazzini M, Dagradi F, Vicentini A, Klug D, Brink PA, Goosen A, Swan H, Toivonen L, Lahtinen AM, Kontula K, Shimizu W, Horie M, George AL Jr, Trégouët DA, Guicheney P, Schwartz PJ.

Circ Cardiovasc Genet. 2013 Aug;6(4):354-61. doi: 10.1161/CIRCGENETICS.113.000023. Epub 2013 Jul 15.

19.

Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.

Maury P, Moreau A, Hidden-Lucet F, Leenhardt A, Fressart V, Berthet M, Denjoy I, Bennamar N, Rollin A, Cardin C, Guicheney P, Chahine M.

J Interv Card Electrophysiol. 2013 Aug;37(2):131-40. doi: 10.1007/s10840-013-9805-7. Epub 2013 Apr 24.

PMID:
23612926
20.

Role of dynamin 2 in the disassembly of focal adhesions.

Briñas L, Vassilopoulos S, Bonne G, Guicheney P, Bitoun M.

J Mol Med (Berl). 2013 Jul;91(7):803-9. doi: 10.1007/s00109-013-1040-2. Epub 2013 Apr 23. Review.

PMID:
23609221
21.

A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.

Bartos DC, Anderson JB, Bastiaenen R, Johnson JN, Gollob MH, Tester DJ, Burgess DE, Homfray T, Behr ER, Ackerman MJ, Guicheney P, Delisle BP.

J Cardiovasc Electrophysiol. 2013 May;24(5):562-9. doi: 10.1111/jce.12068. Epub 2013 Jan 25.

22.

Brugada ECG pattern: a physiopathological prospective study based on clinical, electrophysiological, angiographic, and genetic findings.

Duthoit G, Fressart V, Hidden-Lucet F, Simon F, Kattygnarath D, Charron P, Himbert C, Aouate P, Guicheney P, Lecarpentier Y, Frank R, Hébert JL.

Front Physiol. 2012 Dec 27;3:474. doi: 10.3389/fphys.2012.00474. eCollection 2012.

23.

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

Burgess DE, Bartos DC, Reloj AR, Campbell KS, Johnson JN, Tester DJ, Ackerman MJ, Fressart V, Denjoy I, Guicheney P, Moss AJ, Ohno S, Horie M, Delisle BP.

Biochemistry. 2012 Nov 13;51(45):9076-85. doi: 10.1021/bi3009449. Epub 2012 Nov 2.

24.

Catecholaminergic polymorphic ventricular tachycardia.

Leenhardt A, Denjoy I, Guicheney P.

Circ Arrhythm Electrophysiol. 2012 Oct;5(5):1044-52. doi: 10.1161/CIRCEP.111.962027. Epub 2012 Sep 27. Review. No abstract available.

25.

Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunits.

Clatot J, Ziyadeh-Isleem A, Maugenre S, Denjoy I, Liu H, Dilanian G, Hatem SN, Deschênes I, Coulombe A, Guicheney P, Neyroud N.

Cardiovasc Res. 2012 Oct 1;96(1):53-63. doi: 10.1093/cvr/cvs211. Epub 2012 Jun 27.

26.

An alternative mechanism of clathrin-coated pit closure revealed by ion conductance microscopy.

Shevchuk AI, Novak P, Taylor M, Diakonov IA, Ziyadeh-Isleem A, Bitoun M, Guicheney P, Lab MJ, Gorelik J, Merrifield CJ, Klenerman D, Korchev YE.

J Cell Biol. 2012 May 14;197(4):499-508. doi: 10.1083/jcb.201109130. Epub 2012 May 7.

27.

Selenoprotein N in skeletal muscle: from diseases to function.

Castets P, Lescure A, Guicheney P, Allamand V.

J Mol Med (Berl). 2012 Oct;90(10):1095-107. doi: 10.1007/s00109-012-0896-x. Epub 2012 Apr 14. Review.

PMID:
22527882
28.

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Trémeaux P, Lacampagne A, Fauré J, Lunardi J, Marty I.

Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.

29.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.

30.

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 JM, Klug D, Maury P, Messali A, Guicheney P, Leenhardt A.

Europace. 2012 Sep;14(9):1344-51. doi: 10.1093/europace/eus031. Epub 2012 Mar 1.

PMID:
22383456
31.

A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.

Durieux AC, Vassilopoulos S, Lainé J, Fraysse B, Briñas L, Prudhon B, Castells J, Freyssenet D, Bonne G, Guicheney P, Bitoun M.

Traffic. 2012 Jun;13(6):869-79. doi: 10.1111/j.1600-0854.2012.01348.x. Epub 2012 Apr 3.

32.

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.

Kääb S, Crawford DC, Sinner MF, Behr ER, Kannankeril PJ, Wilde AA, Bezzina CR, Schulze-Bahr E, Guicheney P, Bishopric NH, Myerburg RJ, Schott JJ, Pfeufer A, Beckmann BM, Martens E, Zhang T, Stallmeyer B, Zumhagen S, Denjoy I, Bardai A, Van Gelder IC, Jamshidi Y, Dalageorgou C, Marshall V, Jeffery S, Shakir S, Camm AJ, Steinbeck G, Perz S, Lichtner P, Meitinger T, Peters A, Wichmann HE, Ingram C, Bradford Y, Carter S, Norris K, Ritchie MD, George AL Jr, Roden DM.

Circ Cardiovasc Genet. 2012 Feb 1;5(1):91-9. doi: 10.1161/CIRCGENETICS.111.960930. Epub 2011 Nov 18.

33.

Mutational spectrum in the Ca(2+)--activated cation channel gene TRPM4 in patients with cardiac conductance disturbances.

Stallmeyer B, Zumhagen S, Denjoy I, Duthoit G, Hébert JL, Ferrer X, Maugenre S, Schmitz W, Kirchhefer U, Schulze-Bahr E, Guicheney P, Schulze-Bahr E.

Hum Mutat. 2012 Jan;33(1):109-17. doi: 10.1002/humu.21599. Epub 2011 Oct 20.

PMID:
21887725
34.

Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.

Rederstorff M, Castets P, Arbogast S, Lainé J, Vassilopoulos S, Beuvin M, Dubourg O, Vignaud A, Ferry A, Krol A, Allamand V, Guicheney P, Ferreiro A, Lescure A.

PLoS One. 2011;6(8):e23094. doi: 10.1371/journal.pone.0023094. Epub 2011 Aug 8.

35.

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

Roux-Buisson N, Rendu J, Denjoy I, Guicheney P, Goldenberg A, David N, Faivre L, Barthez O, Danieli GA, Marty I, Lunardi J, Fauré J.

Hum Mutat. 2011 Sep;32(9):995-9. doi: 10.1002/humu.21537. Epub 2011 Aug 5.

PMID:
21618644
36.

MOG1: a new susceptibility gene for Brugada syndrome.

Kattygnarath D, Maugenre S, Neyroud N, Balse E, Ichai C, Denjoy I, Dilanian G, Martins RP, Fressart V, Berthet M, Schott JJ, Leenhardt A, Probst V, Le Marec H, Hainque B, Coulombe A, Hatem SN, Guicheney P.

Circ Cardiovasc Genet. 2011 Jun;4(3):261-8. doi: 10.1161/CIRCGENETICS.110.959130. Epub 2011 Mar 29.

37.

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene.

Clarke NF, Maugenre S, Vandebrouck A, Urtizberea JA, Willer T, Peat RA, Gray F, Bouchet C, Manya H, Vuillaumier-Barrot S, Endo T, Chouery E, Campbell KP, Mégarbané A, Guicheney P.

Eur J Hum Genet. 2011 Apr;19(4):452-7. doi: 10.1038/ejhg.2010.212. Epub 2011 Jan 19.

38.

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.

Castets P, Bertrand AT, Beuvin M, Ferry A, Le Grand F, Castets M, Chazot G, Rederstorff M, Krol A, Lescure A, Romero NB, Guicheney P, Allamand V.

Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.

PMID:
21131290
39.

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K.

J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15.

40.

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

Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, Lubieniecki F, Taratuto AL, Laquerrière A, Claeys KG, Marty I, Fardeau M, Guicheney P, Lunardi J, Romero NB.

Neuropathol Appl Neurobiol. 2011 Apr;37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149.x.

PMID:
21062345
41.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
42.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413. Epub 2010 Sep 21.

PMID:
20858595
43.

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.

Roux-Buisson N, Egéa G, Denjoy I, Guicheney P, Lunardi J.

Europace. 2011 Jan;13(1):130-2. doi: 10.1093/europace/euq331. Epub 2010 Sep 17.

PMID:
20851825
44.

R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

Bartos DC, Duchatelet S, Burgess DE, Klug D, Denjoy I, Peat R, Lupoglazoff JM, Fressart V, Berthet M, Ackerman MJ, January CT, Guicheney P, Delisle BP.

Heart Rhythm. 2011 Jan;8(1):48-55. doi: 10.1016/j.hrthm.2010.09.010. Epub 2010 Sep 17.

45.

POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.

Endo T, Manya H, Seta N, Guicheney P.

Methods Enzymol. 2010;479:343-52. doi: 10.1016/S0076-6879(10)79019-4.

PMID:
20816175
46.

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.

Deconinck N, Dion E, Ben Yaou R, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T.

Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009. Epub 2010 Jun 23.

PMID:
20576434
47.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.

Susman RD, Quijano-Roy S, Yang N, Webster R, Clarke NF, Dowling J, Kennerson M, Nicholson G, Biancalana V, Ilkovski B, Flanigan KM, Arbuckle S, Malladi C, Robinson P, Vucic S, Mayer M, Romero NB, Urtizberea JA, García-Bragado F, Guicheney P, Bitoun M, Carlier RY, North KN.

Neuromuscul Disord. 2010 Apr;20(4):229-37. doi: 10.1016/j.nmd.2010.02.016. Epub 2010 Mar 12.

PMID:
20227276
48.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD, Tester DJ, Alders M, Benito B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A, Harris-Kerr C, Kamakura S, Kyndt F, Koopmann TT, Miyamoto Y, Pfeiffer R, Pollevick GD, Probst V, Zumhagen S, Vatta M, Towbin JA, Shimizu W, Schulze-Bahr E, Antzelevitch C, Salisbury BA, Guicheney P, Wilde AA, Brugada R, Schott JJ, Ackerman MJ.

Heart Rhythm. 2010 Jan;7(1):33-46. doi: 10.1016/j.hrthm.2009.09.069. Epub 2009 Oct 8.

49.

Dynamin 2 and human diseases.

Durieux AC, Prudhon B, Guicheney P, Bitoun M.

J Mol Med (Berl). 2010 Apr;88(4):339-50. doi: 10.1007/s00109-009-0587-4. Epub 2010 Feb 3. Review.

PMID:
20127478
50.

SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome.

Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ.

Circ Cardiovasc Genet. 2009 Dec;2(6):552-7. doi: 10.1161/CIRCGENETICS.109.853374. Epub 2009 Sep 29.

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