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Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel
Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel
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Molecular genetics and functional anomalies in a series of 248 Brugada cases with 11 mutations in the TRPM4 channel

Liu, Hui ; Chatel, Stéphanie ; Simard, Christophe ; Syam, Ninda ; Salle, Laurent ; Probst, Vincent ; Morel, Julie ; Millat, Gilles ; Lopez, Michel ; Abriel, Hugues ; Schott, Jean-Jacques ; Guinamard, Romain ; Bouvagnet, Patrice Aalto-Setala, Katriina

PloS one, 2013-01, Vol.8 (1), p.e54131-e54131 [Periódico revisado por pares]

United States: Public Library of Science

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2
An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
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An international compendium of mutations in the SCN5A -encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing

Kapplinger, Jamie D., BA ; Tester, David J., BS ; Alders, Marielle, PhD ; Benito, Begoña, MD ; Berthet, Myriam, BA ; Brugada, Josep, MD, PhD ; Brugada, Pedro, MD, PhD ; Fressart, Véronique, MD ; Guerchicoff, Alejandra, PhD ; Harris-Kerr, Carole, PhD ; Kamakura, Shiro, MD, PhD ; Kyndt, Florence, PhD ; Koopmann, Tamara T., PhD ; Miyamoto, Yoshihiro, MD ; Pfeiffer, Ryan, BS ; Pollevick, Guido D., PhD ; Probst, Vincent, MD, PhD ; Zumhagen, Sven, MD ; Vatta, Matteo, PhD ; Towbin, Jeffrey A., MD ; Shimizu, Wataru, MD, PhD ; Schulze-Bahr, Eric, MD ; Antzelevitch, Charles, PhD ; Salisbury, Benjamin A., PhD ; Guicheney, Pascale, PhD ; Wilde, Arthur A.M., MD, PhD ; Brugada, Ramon, MD, PhD ; Schott, Jean-Jacques, PhD ; Ackerman, Michael J., MD, PhD

Heart rhythm, 2010-01, Vol.7 (1), p.33-46 [Periódico revisado por pares]

United States: Elsevier Inc

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3
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome
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SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

Probst, Vincent ; Wilde, Arthur A.M ; Barc, Julien ; Sacher, Frederic ; Babuty, Dominique ; Mabo, Philippe ; Mansourati, Jacques ; Le Scouarnec, Solena ; Kyndt, Florence ; Le Caignec, Cedric ; Guicheney, Pascale ; Gouas, Laetitia ; Albuisson, Juliette ; Meregalli, Paola G ; Le Marec, Herve ; Tan, Hanno L ; Schott, Jean-Jacques

Circulation. Cardiovascular genetics, 2009-12, Vol.2 (6), p.552-557 [Periódico revisado por pares]

United States: American Heart Association, Inc

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4
Identification of Large Families in Early Repolarization Syndrome
Identification of Large Families in Early Repolarization Syndrome
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Identification of Large Families in Early Repolarization Syndrome

Gourraud, Jean-Baptiste, MD ; Le Scouarnec, Solena, PhD ; Sacher, Frederic, MD ; Chatel, Stéphanie, PhD ; Derval, Nicolas, MD ; Portero, Vincent, MS ; Chavernac, Pascal, MD ; Sandoval, Juan E., PhD ; Mabo, Philippe, MD, PhD ; Redon, Richard, PhD ; Schott, Jean-Jacques, PhD ; Le Marec, Hervé, MD, PhD ; Haïssaguerre, Michel, MD, PhD ; Probst, Vincent, MD, PhD

Journal of the American College of Cardiology, 2013-01, Vol.61 (2), p.164-172 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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5
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
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Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Meregalli, Paola G., MD ; Tan, Hanno L., MD, PhD ; Probst, Vincent, MD, PhD ; Koopmann, Tamara T., PhD ; Tanck, Michael W., PhD ; Bhuiyan, Zahurul A., MD, PhD ; Sacher, Frederic, MD ; Kyndt, Florence, PharmD, PhD ; Schott, Jean-Jacques, PhD ; Albuisson, J., MD ; Mabo, Philippe, MD ; Bezzina, Connie R., PhD ; Le Marec, Herve, MD, PhD ; Wilde, Arthur A.M., MD, PhD

Heart rhythm, 2009-03, Vol.6 (3), p.341-348 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Defects in Ankyrin-Based Membrane Protein Targeting Pathways Underlie Atrial Fibrillation
Defects in Ankyrin-Based Membrane Protein Targeting Pathways Underlie Atrial Fibrillation
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Defects in Ankyrin-Based Membrane Protein Targeting Pathways Underlie Atrial Fibrillation

CUNHA, Shane R ; HUND, Thomas J ; KARCK, Matthias ; SCHOTT, Jean-Jacques ; PROBST, Vincent ; LE MAREC, Herve ; ANDERSON, Mark E ; DOBREV, Dobromir ; WEHRENS, Xander H. T ; MOHLER, Peter J ; HASHEMI, Seyed ; VOIGT, Niels ; NA LI ; WRIGHT, Patrick ; KOVAL, Olha ; JINGDONG LI ; GUDMUNDSSON, Hjalti ; GUMINA, Richard J

Circulation (New York, N.Y.), 2011-09, Vol.124 (11), p.1212-1222 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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7
Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy
Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy
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Mutations in the gene encoding filamin a as a cause for familial cardiac valvular dystrophy

KYNDT, Florence ; GUEFFET, Jean-Pierre ; NEWBURY-ECOB, Ruth ; TRAN, Vinh ; YOUNG, Ian ; TROCHU, Jean-Noël ; LE MAREC, Hervé ; SCHOTT, Jean-Jacques ; PROBST, Vincent ; JAAFAR, Philippe ; LEGENDRE, Antoine ; LE BOUFFANT, Francoise ; TOQUET, Claire ; ROY, Estelle ; MCGREGOR, Lesley ; LYNCH, Sally Ann

Circulation (New York, N.Y.), 2007-01, Vol.115 (1), p.40-49 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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8
TRPM4 non-selective cation channel variants in long QT syndrome
TRPM4 non-selective cation channel variants in long QT syndrome
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TRPM4 non-selective cation channel variants in long QT syndrome

Hof, Thomas ; Liu, Hui ; Sallé, Laurent ; Schott, Jean-Jacques ; Ducreux, Corinne ; Millat, Gilles ; Chevalier, Philippe ; Probst, Vincent ; Guinamard, Romain ; Bouvagnet, Patrice

BMC medical genetics, 2017-03, Vol.18 (1), p.31-31, Article 31 [Periódico revisado por pares]

England: BioMed Central Ltd

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9
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia
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Identification of novel APOB mutations by targeted next-generation sequencing for the molecular diagnosis of familial hypobetalipoproteinemia

Rimbert, Antoine ; Pichelin, Matthieu ; Lecointe, Simon ; Marrec, Marie ; Le Scouarnec, Solena ; Barrak, Elias ; Croyal, Mikael ; Krempf, Michel ; Le Marec, Hervé ; Redon, Richard ; Schott, Jean-Jacques ; Magré, Jocelyne ; Cariou, Bertrand

Atherosclerosis, 2016-07, Vol.250, p.52-56 [Periódico revisado por pares]

Ireland: Elsevier Ireland Ltd

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10
Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes
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Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes

Yagihara, Nobue ; Watanabe, Hiroshi ; Barnett, Phil ; Duboscq‐Bidot, Laetitia ; Thomas, Atack C. ; Yang, Ping ; Ohno, Seiko ; Hasegawa, Kanae ; Kuwano, Ryozo ; Chatel, Stéphanie ; Redon, Richard ; Schott, Jean‐Jacques ; Probst, Vincent ; Koopmann, Tamara T. ; Bezzina, Connie R. ; Wilde, Arthur A. M. ; Nakano, Yukiko ; Aiba, Takeshi ; Miyamoto, Yoshihiro ; Kamakura, Shiro ; Darbar, Dawood ; Donahue, Brian S. ; Shigemizu, Daichi ; Tanaka, Toshihiro ; Tsunoda, Tatsuhiko ; Suda, Masayoshi ; Sato, Akinori ; Minamino, Tohru ; Endo, Naoto ; Shimizu, Wataru ; Horie, Minoru ; Roden, Dan M. ; Makita, Naomasa

Journal of the American Heart Association, 2016-09, Vol.5 (9), p.n/a [Periódico revisado por pares]

England: Wiley-Blackwell

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