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Mathias Gautel

Showing results (91-100 of 104) with videos related to

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Cells|March 11, 2023
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in <i>ACTN2</i>Sophie Broadway-Stringer, He Jiang, Kirsty Wadmore, et al.
Elife|September 24, 2021
Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overloadMaria Carmela Filomena, Daniel L Yamamoto, Pierluigi Carullo, et al.
Cell|December 1, 2014
The structure and regulation of human muscle α-actininEuripedes de Almeida Ribeiro, Nikos Pinotsis, Andrea Ghisleni, et al.
Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Science Advances|May 29, 2021
Order from disorder in the sarcomere: FATZ forms a fuzzy but tight complex and phase-separated condensates with α-actininAntonio Sponga, Joan L Arolas, Thomas C Schwarz, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
JAMA Cardiology|May 12, 2021
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart FailureMohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, et al.
Pageof 11

Showing results (91-100 of 104) with videos related to

Sort By:
Pageof 11
Cells|March 11, 2023
Insights into the Role of a Cardiomyopathy-Causing Genetic Variant in <i>ACTN2</i>Sophie Broadway-Stringer, He Jiang, Kirsty Wadmore, et al.
Elife|September 24, 2021
Myopalladin knockout mice develop cardiac dilation and show a maladaptive response to mechanical pressure overloadMaria Carmela Filomena, Daniel L Yamamoto, Pierluigi Carullo, et al.
Cell|December 1, 2014
The structure and regulation of human muscle α-actininEuripedes de Almeida Ribeiro, Nikos Pinotsis, Andrea Ghisleni, et al.
Circulation. Cardiovascular Genetics|September 15, 2016
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular NoncompactionRobert Hastings, Carin P de Villiers, Charlotte Hooper, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Science Advances|May 29, 2021
Order from disorder in the sarcomere: FATZ forms a fuzzy but tight complex and phase-separated condensates with α-actininAntonio Sponga, Joan L Arolas, Thomas C Schwarz, et al.
Annals of Clinical and Translational Neurology|August 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrumMaria Francesca Di Feo, Ali Oghabian, Ella Nippala, et al.
Nature Genetics|December 11, 2012
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagyThomas Cullup, Ay Lin Kho, Carlo Dionisi-Vici, et al.
Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.
JAMA Cardiology|May 12, 2021
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart FailureMohammed Majid Akhtar, Massimiliano Lorenzini, Menelaos Pavlou, et al.
Pageof 11