The odyssey of complex neurogenetic disorders: From undetermined to positive
Salinas, Valeria, Vega, Patricia, Marsili, Luca, Pérez‐Maturo, Josefina, Martínez, Nerina, Zavala, Lucia, González‐Morón, Dolores, Medina, Nancy, Rodriguez‐Quiroga, Sergio A., Amartino, Hernán, Maxit, Clarisa, Sturchio, Andrea, Grimberg, Barbara, Duque, Kevin, Comas, Betiana, Silva, Walter, Consalvo, Damián, Sfaello, Ignacio, Espay, Alberto J., Kauffman, Marcelo A.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2020)
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Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years
Cohen, Leila, Manín, Analisa, Medina, Nancy, Rodríguez‐Quiroga, Sergio, González‐Morón, Dolores, Rosales, Julieta, Amartino, Hernan, Specola, Norma, Córdoba, Marta, Kauffman, Marcelo, Vega, Patricia
Published in Annals of human genetics (01.01.2020)
Published in Annals of human genetics (01.01.2020)
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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
Rodriguez‐Quiroga, Sergio, Zavala, Lucia, Pérez Maturo, Josefina, González‐Morón, Dolores, Garretto, Nelida, Kauffman, Marcelo A.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.04.2020)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.04.2020)
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Molecular Diagnosis in an Argentinean Mitochondrial Disorders Cohort
Martinez, Nerina, Rosales, Julieta, Medina, Nancy, Perez-Maturo, Josefina, Salinas, Valeria, Zavala, Lucia, Vega, Patricia, Rodríguez-Quiroga, Sergio, Morón, Dolores González, Kauffman, Marcelo A.
Published in Journal of inborn errors of metabolism and screening (2021)
Published in Journal of inborn errors of metabolism and screening (2021)
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Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
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
Published in European journal of medical genetics (01.12.2021)
Published in European journal of medical genetics (01.12.2021)
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Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic
RODRÍGUEZ-QUIROGA, SERGIO ALEJANDRO, CORDOBA, MARTA, GONZÁLEZ-MORÓN, DOLORES, MEDINA, NANCY, VEGA, PATRICIA, DUSEFANTE, CECILIA VAZQUEZ, ARAKAKI, TOMOKO, GARRETTO, NÉLIDA SUSANA, KAUFFMAN, MARCELO ANDRES
Published in Genetical research (01.01.2015)
Published in Genetical research (01.01.2015)
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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach
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
Published in PloS one (01.02.2018)
Published in PloS one (01.02.2018)
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Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders
González-Morón, Dolores, Vishnopolska, Sebastián, Consalvo, Damián, Medina, Nancy, Marti, Marcelo, Córdoba, Marta, Vazquez-Dusefante, Cecilia, Claverie, Santiago, Rodríguez-Quiroga, Sergio Alejandro, Vega, Patricia, Silva, Walter, Kochen, Silvia, Kauffman, Marcelo Andrés
Published in PloS one (27.09.2017)
Published in PloS one (27.09.2017)
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Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder
Nemirovsky, Sergio I, Córdoba, Marta, Zaiat, Jonathan J, Completa, Sabrina P, Vega, Patricia A, González-Morón, Dolores, Medina, Nancy M, Fabbro, Mónica, Romero, Soledad, Brun, Bianca, Revale, Santiago, Ogara, María Florencia, Pecci, Adali, Marti, Marcelo, Vazquez, Martin, Turjanski, Adrián, Kauffman, Marcelo A
Published in PloS one (03.02.2015)
Published in PloS one (03.02.2015)
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A familiar study on self-limited childhood epilepsy patients using hIPSC-derived neurons shows a bias towards immaturity at the morphological, electrophysiological and gene expression levels
Casalia, Mariana L, Casabona, Juan Cruz, García, Corina, Cavaliere Candedo, Verónica, Quintá, Héctor Ramiro, Farías, María Isabel, Gonzalez, Joaquín, Gonzalez Morón, Dolores, Córdoba, Marta, Consalvo, Damian, Mostoslavsky, Gustavo, Urbano, Francisco J, Pasquini, Juana, Murer, Mario Gustavo, Rela, Lorena, Kauffman, Marcelo A, Pitossi, Fernando J
Published in Stem cell research & therapy (25.11.2021)
Published in Stem cell research & therapy (25.11.2021)
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Serotonin transporter gene variation and refractory mesial temporal epilepsy with hippocampal sclerosis
Kauffman, Marcelo Andrés, Consalvo, Damián, Gonzalez-Morón, Dolores, Aguirre, Florencia, D’Alessio, Luciana, Kochen, Silvia
Published in Epilepsy research (01.08.2009)
Published in Epilepsy research (01.08.2009)
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Holmes Tremor‐Like Phenotype in DYT1 Dystonia
Rodriguez‐Quiroga, Sergio, Gonzalez‐Moron, Dolores, Espay, Alberto J., Kauffman, Marcelo A.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.03.2018)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.03.2018)
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How to improve social and professional reinsertion of patients with neurodiabilities ? Practical indications for the general practitioner
Perret, Nicolas, González-Morón, Dolores, Queijo, Hélène, Honorez-Erard, Isabelle, Attwell, Caroline, Ryvlin, Philippe, Bovay, Gilles, Dorthe, Dominique, Newman, Christopher J, Diserens, Karin
Published in Revue médicale suisse (06.05.2020)
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Published in Revue médicale suisse (06.05.2020)
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Comment faciliter la réinsertion socioprofessionnelle du patient neurolésé ? Outils pour le praticien
Perret, Nicolas, González-Morón, Dolores, Queijo, Hélène, Honorez-Erard, Isabelle, Attwell, Caroline, Ryvlin, Philippe, Bovay, Gilles, Dorthe, Dominique, Newman, Christopher J., Diserens, Karin
Published in Revue médicale suisse (2020)
Published in Revue médicale suisse (2020)
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The Epilepsy Phenome/Genome Project
McGovern, Kathleen, Stillman, Nora, McKenna, Kevin, Mays, Vickie, Williams, Michael, Carpenter, Alan, Miller, Kevin, Agarwal, Prashant, Ayala, Jennifer, Bakey, Cate, Borkowski, Thomas, Boyd, Riann, Camuto, Alicia, Carrasco, Cendy, Cassarly, Jennifer, Collins, Yong, Collon, Kevin, Collon, Sean, Eckman, Heather, Fogarty, Susan, Morón, Dolores González, Grayson, La June, Hagopian, Samantha, Hayden, Emily, Heggeli, Kristin, Hennessy, Rachel, Hessling, Jody, Hirschfield, Emily, Howell, Jennifer, Klingerman, Sherry, Lopez, Maritza, Marinelli, Heather, Maschhaupt, Brandy, Minnick, Jennie, Misajon, Jade, Monahan, Jennifer, Oliver, Karen, Parulkar, Isha, Przepiorka, Laura, Pyzik, Paula, Regan, Brigid, Shain, Catherine, Slingerland, Lexie, Stanton, Caitlin, Taylor, Kelly, Thompson, Stacy, Turczyk, Jennifer, Vara, Alexander, Wesolowski, Cindy, Yourich, Andrew
Published in Clinical trials (London, England) (01.08.2013)
Published in Clinical trials (London, England) (01.08.2013)
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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 Epilepsy
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
Published in European journal of medical genetics (01.11.2019)
Published in European journal of medical genetics (01.11.2019)
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