Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.

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Title: Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Authors: Perrin, Aurélien1,2 (AUTHOR) anne.bergougnoux@inserm.fr, Garcia-Uzquiano, Rocio3 (AUTHOR) rocio.garciauzquiano@aphp.fr, Stojkovic, Tanya4 (AUTHOR) stojkovic.tanya@aphp.fr, Tard, Céline5 (AUTHOR) celine.tard@chu-lille.fr, Metay, Corinne6 (AUTHOR) corinne.metay@aphp.fr, Bergougnoux, Anne1,2 (AUTHOR) c-vangoethem@chu-montpellier.fr, Van Goethem, Charles1 (AUTHOR) corinne.theze@inserm.fr, Thèze, Corinne1 (AUTHOR) marion.larrieux@ext.inserm.fr, Larrieux, Marion1 (AUTHOR) heloise.faure-gautron@inserm.fr, Faure-Gautron, Héloise1,2 (AUTHOR) michel.koenig@inserm.fr, Laporte, Jocelyn7 (AUTHOR) jocelyn@igbmc.fr, Lefebvre, Guillaume8 (AUTHOR) guillaume.lefebvre@chu-lille.fr, Krahn, Martin9,10 (AUTHOR) martin.krahn@univ-amu.fr, Juntas-Morales, Raul11 (AUTHOR) rjuntas@vhebron.net, Collaborators, Titin's Network1 (AUTHOR), Koenig, Michel1,2 (AUTHOR), Quijano-Roy, Susana3,12 (AUTHOR) robert.carlier@aphp.fr, Carlier, Robert-Yves12,13 (AUTHOR), Cossée, Mireille1,2 (AUTHOR) aurelien.perrin@ext.inserm.fr
Source: International Journal of Molecular Sciences. Dec2024, Vol. 25 Issue 23, p12994. 15p.
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  Data: Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
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  Data: <searchLink fieldCode="AR" term="%22Perrin%2C+Aurélien%22">Perrin, Aurélien</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> anne.bergougnoux@inserm.fr</i><br /><searchLink fieldCode="AR" term="%22Garcia-Uzquiano%2C+Rocio%22">Garcia-Uzquiano, Rocio</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> rocio.garciauzquiano@aphp.fr</i><br /><searchLink fieldCode="AR" term="%22Stojkovic%2C+Tanya%22">Stojkovic, Tanya</searchLink><relatesTo>4</relatesTo> (AUTHOR)<i> stojkovic.tanya@aphp.fr</i><br /><searchLink fieldCode="AR" term="%22Tard%2C+Céline%22">Tard, Céline</searchLink><relatesTo>5</relatesTo> (AUTHOR)<i> celine.tard@chu-lille.fr</i><br /><searchLink fieldCode="AR" term="%22Metay%2C+Corinne%22">Metay, Corinne</searchLink><relatesTo>6</relatesTo> (AUTHOR)<i> corinne.metay@aphp.fr</i><br /><searchLink fieldCode="AR" term="%22Bergougnoux%2C+Anne%22">Bergougnoux, Anne</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> c-vangoethem@chu-montpellier.fr</i><br /><searchLink fieldCode="AR" term="%22Van+Goethem%2C+Charles%22">Van Goethem, Charles</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> corinne.theze@inserm.fr</i><br /><searchLink fieldCode="AR" term="%22Thèze%2C+Corinne%22">Thèze, Corinne</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> marion.larrieux@ext.inserm.fr</i><br /><searchLink fieldCode="AR" term="%22Larrieux%2C+Marion%22">Larrieux, Marion</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> heloise.faure-gautron@inserm.fr</i><br /><searchLink fieldCode="AR" term="%22Faure-Gautron%2C+Héloise%22">Faure-Gautron, Héloise</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> michel.koenig@inserm.fr</i><br /><searchLink fieldCode="AR" term="%22Laporte%2C+Jocelyn%22">Laporte, Jocelyn</searchLink><relatesTo>7</relatesTo> (AUTHOR)<i> jocelyn@igbmc.fr</i><br /><searchLink fieldCode="AR" term="%22Lefebvre%2C+Guillaume%22">Lefebvre, Guillaume</searchLink><relatesTo>8</relatesTo> (AUTHOR)<i> guillaume.lefebvre@chu-lille.fr</i><br /><searchLink fieldCode="AR" term="%22Krahn%2C+Martin%22">Krahn, Martin</searchLink><relatesTo>9,10</relatesTo> (AUTHOR)<i> martin.krahn@univ-amu.fr</i><br /><searchLink fieldCode="AR" term="%22Juntas-Morales%2C+Raul%22">Juntas-Morales, Raul</searchLink><relatesTo>11</relatesTo> (AUTHOR)<i> rjuntas@vhebron.net</i><br /><searchLink fieldCode="AR" term="%22Collaborators%2C+Titin's+Network%22">Collaborators, Titin's Network</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Koenig%2C+Michel%22">Koenig, Michel</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Quijano-Roy%2C+Susana%22">Quijano-Roy, Susana</searchLink><relatesTo>3,12</relatesTo> (AUTHOR)<i> robert.carlier@aphp.fr</i><br /><searchLink fieldCode="AR" term="%22Carlier%2C+Robert-Yves%22">Carlier, Robert-Yves</searchLink><relatesTo>12,13</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Cossée%2C+Mireille%22">Cossée, Mireille</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> aurelien.perrin@ext.inserm.fr</i>
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  Data: <searchLink fieldCode="JN" term="%22International+Journal+of+Molecular+Sciences%22">International Journal of Molecular Sciences</searchLink>. Dec2024, Vol. 25 Issue 23, p12994. 15p.
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        Text: English
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              Text: Dec2024
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