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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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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Journal Article
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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Journal Article
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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Journal Article
Huntington’s disease masquerading as spinocerebellar ataxia
Rodríguez-Quiroga, Sergio Alejandro, Gonzalez-Morón, Dolores, Garretto, Nelida, Kauffman, Marcelo Andres
Published in BMJ case reports (12.07.2013)
Published in BMJ case reports (12.07.2013)
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Journal Article
Social concepts and the cerebellum: behavioural and functional connectivity signatures in cerebellar ataxic patients
Lopes da Cunha, Pamela, Fittipaldi, Sol, González Campo, Cecilia, Kauffman, Marcelo, Rodríguez-Quiroga, Sergio, Yacovino, Darío Andrés, Ibáñez, Agustín, Birba, Agustina, García, Adolfo M
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (13.02.2023)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (13.02.2023)
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Journal Article
Healthcare Differences and COVID‐19 Impact on Parkinson's Disease
Rodríguez‐Quiroga, Sergio, Fasano, Alfonso
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2022)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.08.2022)
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Journal Article
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
Gama, Maria Thereza D., Braga‐Neto, Pedro, Rangel, Deborah M., Godeiro, Clécio, Alencar, Rodrigo, Embiruçu, Emília K., Cornejo‐Olivas, Mario, Sarapura‐Castro, Elison, Saffie Awad, Paula, Muñoz Chesta, Daniela, Kauffman, Marcelo, Rodriguez‐Quiroga, Sergio, Jardim, Laura B., Graça, Felipe F., França, Marcondes C., Tomaselli, Pedro J., Marques, Wilson, Teive, Helio A.G., Barsottini, Orlando G.P., Pedroso, José Luiz, Synofzik, Matthis
Published in Movement disorders (01.08.2022)
Published in Movement disorders (01.08.2022)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Timely diagnosis of Wilson's disease using whole exome sequencing
Rodríguez-Quiroga, Sergio A, Rosales, Julieta, Arakaki, Tomoko, Cordoba, Marta, González-Morón, Dolores, Medina, Nancy, Garretto, Nélida S, Kauffman, Marcelo A
Published in Parkinsonism & related disorders (01.11.2015)
Published in Parkinsonism & related disorders (01.11.2015)
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Journal Article
Commentary on: Neuromyelitis optica spectrum disorder related tonic spams responsive to lacosamide
Alejandro Rodríguez-Quiroga, Sergio, Abaroa, Luz, Melamud, Luciana, Arakaki, Tomoko, Garretto, Nélida S., Villa, Andrés M.
Published in Multiple sclerosis and related disorders (01.10.2017)
Published in Multiple sclerosis and related disorders (01.10.2017)
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Journal Article
Ataxia Myoclonus Syndrome in Mild Acute COVID-19 Infection
Rodriguez-Quiroga, Sergio, Aldecoa, Mayra, Morera, Nicolas, Gatti, Carolina, Gil, Cesar, Garretto, Nélida, Fasano, Alfonso
Published in Cerebellum (London, England) (01.10.2023)
Published in Cerebellum (London, England) (01.10.2023)
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Journal Article
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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Journal Article
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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Journal Article
Ataxia plus myoclonus in a 23-year-old patient due to STUB1 mutations
Cordoba, Marta, Rodriguez-Quiroga, Sergio, Gatto, Emilia Mabel, Alurralde, Agustín, Kauffman, Marcelo Andrés
Published in Neurology (15.07.2014)
Published in Neurology (15.07.2014)
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