A Family with Late‐Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas von Rodriguez‐Quiroga, Sergio, Zavala, Lucia, Pérez Maturo, Josefina, González‐Morón, Dolores, Garretto, Nelida, Kauffman, Marcelo A.

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Alternative end-joining originates stable chromosome aberrations induced by etoposide during targeted inhibition of DNA-PKcs in ATM-deficient tumor cells von de Campos Nebel, Marcelo, Palmitelli, Micaela, Pérez Maturo, Josefina, González-Cid, Marcela

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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach von Córdoba, Marta, Rodriguez-Quiroga, Sergio Alejandro, Vega, Patricia Analía, Salinas, Valeria, Perez-Maturo, Josefina, Amartino, Hernán, Vásquez-Dusefante, Cecilia, Medina, Nancy, González-Morón, Dolores, Kauffman, Marcelo Andrés

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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation von Salinas, Valeria, Martínez, Nerina, Maturo, Josefina Pérez, Rodriguez-Quiroga, Sergio A., Zavala, Lucia, Medina, Nancy, Amartino, Hernán, Sfaello, Ignacio, Agosta, Guillermo, Serafín, Eva Maria, Morón, Dolores González, Kauffman, Marcelo A., Vega, Patricia

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Inferring parental gonadal mosaicism in LMNA‐associated muscular dystrophy by ultra‐deep next generation sequencing: A sensitive approach providing valuable information for genetic... von Perez Maturo, Josefina, Vega, Patricia, Medina, Nancy, Salinas, Valeria, Pauni, Micaela, Agosta, Guillermo, Muntadas Rausei, Javier, Kauffman, Marcelo

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Novel Variants in ATM Causing Mild Ataxia‐Telangiectasia: From Benchside to Bedside and Back Again von Perez Maturo, Josefina, Gonzalez Cid, Marcela, Zavala, Lucia, Rodriguez Quiroga, Sergio, Kauffman, Marcelo Andres

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Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic von Marsili, Luca, Duque, Kevin R, Abanto, Jesus, Chinchihualpa Paredes, Nathaly O, Duker, Andrew P, Collins, Kathleen, Miranda, Marcelo, Bustamante, M. Leonor, Pauciulo, Michael, Dixon, Michael, Chaib, Hassan, Perez-Maturo, Josefina, Hill, Emily J, Espay, Alberto J, Kauffman, Marcelo A

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Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort von Martinez, Nerina, Rosales, Julieta, Medina, Nancy, Perez-Maturo, Josefina, Salinas, Valeria, Zavala, Lucia, Vega, Patricia, Rodríguez-Quiroga, Sergio, Morón, Dolores González, Kauffman, Marcelo A.

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Overwhelming genetic heterogeneity and exhausting molecular diagnostic process in chronic and progressive ataxias: Facing up with an algorithm, a gene, a panel at the same time. (P... von Zavala, Lucia, Maturo, Josefina Perez, Rodriguez-Quiroga, Sergio, Vega, Patricia, Moron, Dolores Gonzales, Medina, Nancy, Garreto, Nelida, Arakaki, Tomoko, Kauffman, Marcelo

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Identification of a somatic mutation in the RHEB gene through high depth and ultra-high depth next generation sequencing in a patient with Hemimegalencephaly and drug resistant Epi... von Salinas, Valeria, Vega, Patricia, Piccirilli, María Victoria, Chicco, Carla, Ciraolo, Carlos, Christiansen, Silvia, Consalvo, Damián, Perez-Maturo, Josefina, Medina, Nancy, González-Morón, Dolores, Novaro, Virginia, Perrone, Cecilia, García, María del Carmen, Agosta, Guillermo, Silva, Walter, Kauffman, Marcelo

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A Family with Late-Onset and Predominant Choreic Niemann Pick Type C: A Treatable Piece in the Etiological Puzzle of Choreas von Rodriguez-Quiroga, Sergio, Zavala, Lucia, Pérez Maturo, Josefina, González-Morón, Dolores, Garretto, Nelida, Kauffman, Marcelo A

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