Caracterización molecular de distrofinopatías en el Hospital del Niño “Dr. Francisco de Icaza Bustamante”, Guayaquil, Ecuador von Sancan Jalca, Byron Heberth, Betancourt Castellanos, Liset, Galarza Brito, Juan Elí

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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis von Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

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Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis von Syeda, Safoora B, Lone, Museer A, Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França, Marcondes C, Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D, Lakhotia, Arpita, Shieh, Perry B, Foley, A Reghan, Jackson, Kelly E, Chao, Katherine R, Winder, Thomas L, Catapano, Francesco, Feng, Lucy, Kirschner, Janbernd, Muntoni, Francesco, Dunn, Teresa M, Hornemann, Thorsten, Bönnemann, Carsten G

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