Search Results - "Tapie, Alejandra"

Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathy by Raggio, Víctor, Graña, Martín, Winiarski, Erik, Mansilla, Santiago, Simoes, Camila, Rodríguez, Soledad, Brandes, Mariana, Tapié, Alejandra, Rodríguez, Laura, Cibils, Lucía, Alonso, Martina, Martínez, Jennyfer, Fernández-Calero, Tamara, Domínguez, Fernanda, Mezquida, Melania Rosas, Castro, Laura, Cerisola, Alfredo, Naya, Hugo, Cassina, Adriana, Quijano, Celia, Spangenberg, Lucía

“…The SPATA5 gene encodes a 892 amino-acids long protein that has a putative mitochondrial targeting sequence and has been proposed to function in maintenance of…”
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Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease by Raggio, Víctor, Dell'Oca, Nicolas, Simoes, Camila, Tapié, Alejandra, Medici, Conrado, Costa, Gonzalo, Rodriguez, Soledad, Greif, Gonzalo, Garrone, Estefania, Rovella, María Laura, Gonzalez, Virgina, Halty, Margarita, González, Gabriel, Shin, Jong-Yeon, Shin, Sang-Yoon, Kim, Changhoon, Seo, Jeong-Sun, Graña, Martin, Naya, Hugo, Spangenberg, Lucia

“…Rare diseases are pathologies that affect less than 1 in 2000 people. They are difficult to diagnose due to their low frequency and their often highly…”
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Advances in the identification of the aetiology of mental retardation by González, Gabriel, Raggio, Víctor, Boidi, María, Tapié, Alejandra, Roche, Leda

“…Despite the advances made in the field of genetics, neuroimaging and metabolic diseases, half the children with mental retardation remain without an…”
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Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report by Simoes, Camila, Graéa, Martín, Rodriguez, Soledad, Baltar Yanes, Federico, Tapié, Alejandra, Dell'Oca, Nicolás, Naya, Hugo, Raggio, Víctor, Spangenberg, Lucía

“…Abstract Background Lissencephaly (LIS) is a cortical malformation, characterized by smooth or nearly smooth cerebral surface and a shortage of gyral and…”
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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report by Baltar, Federico, Simoes, Camila, Garagorry, Francisco, Graña, Martín, Rodríguez, Soledad, Haydée Aunchayna, María, Tapié, Alejandra, Cerisola, Alfredo, González, Gabriel, Naya, Hugo, Spangenberg, Lucía, Raggio, Víctor

“…Neuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic abnormalities…”
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Fibrodysplasia ossificans progressiva in a 3-year-old female patient by Moreira, Cecilia, Dapueto, Gabriel, Peluffo, Gabriel, Vomero, Alejandra, Tapié, Alejandra, Rodríguez, Soledad, Raggio, Victor, Suárez, Rodrigo, Giachetto, Gustavo, García, Loreley

“…Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disease affecting connective tissue, primarily caused by de novo mutations of the…”
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Deep sequencing discovery of causal mtDNA mutations in a patient with unspecific neurological disease by Spangenberg, Lucía, Graña, Martín, Mansilla, Santiago, Martínez, Jennyfer, Tapié, Alejandra, Greif, Gonzalo, Montano, Nélida, Vaglio, Alicia, Gueçaimburú, Rosario, Robello, Carlos, Castro, Laura, Quijano, Celia, Raggio, Victor, Naya, Hugo

“…Mitochondrial diseases (MD) are a group of diseases that can be caused by either mutations in the mitochondrial genome or nuclear DNA. MD may be difficult to…”
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Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause by Spangenberg, Lucía, Guecaimburú, Rosario, Tapié, Alejandra, Vivas, Susana, Rodríguez, Soledad, Graña, Martín, Naya, Hugo, Raggio, Víctor

“…Background The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since…”
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3697G>A in MT-ND1 is a causative mutation in mitochondrial disease by Spangenberg, Lucía, Graña, Martín, Greif, Gonzalo, Suarez-Rivero, Juan M, Krysztal, Karina, Tapié, Alejandra, Boidi, María, Fraga, Valeria, Lemes, Aída, Gueçaimburú, Rosario, Cerisola, Alfredo, Sánchez-Alcázar, José A, Robello, Carlos, Raggio, Victor, Naya, Hugo

“…Mitochondrial diseases are a group of clinically heterogeneous disorders that can be difficult to diagnose. We report a two and a half year old girl with…”
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A novel mutation in the OAR domain of the ARX gene by Tapie, Alejandra, Pi‐Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía

“…Key Clinical Message Mutations in ARX gene should be considered in patients with mental disability or/and epilepsy. It is an X‐linked gene that has pleiotropic…”
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Avances en la identificación etiológica del retraso mental by González Rabelino, Gabriel, Raggio Risso, Víctor, Boidi Hernández, María, Tapié Nicolini, Alejandra, Roche Lowezy, Leda

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Estudio descriptivo de pacientes con patología genética en una unidad de cuidados intensivos pediátricos by Moraes, Mariana, Rodríguez, Soledad, Tapié, Alejandra, Fernández, Alicia, Raggio, Víctor

“…Atendiendo a la importancia de la patología genética en pediatría, causa significativa de morbimortalidad infantil y teniendo en cuenta el aumento de pacientes…”
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Retinosquisis ligada al cromosoma X by Ana Batalla, Soledad Rodríguez, Alejandra Tapié, Salomón Saúl, Víctor Raggio

“…La Retinosquisis ligada al X, que se presenta fundamentalmente en varones, es una enfermedad genética caracterizada por agudeza visual reducida debido a…”
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Fibrodysplasia ossificans progressiva in a 3-year-old female patient by Moreira, Cecilia, Dapueto, Gabriel, Peluffo, Gabriel, Vomero, Alejandra, Tapié, Alejandra, Rodríguez, Soledad, Raggio, Victor, Suárez, Rodrigo, Giachetto, Gustavo, García, Loreley

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A novel mutation in the OAR domain of the ARX gene by Tapie, Alejandra, Pi-Denis, Natalia, Souto, Jorge, Vomero, Alejandra, Peluffo, Gabriel, Boidi, María, Ciganda, Martín, Curbelo, Nicolás, Raggio, Victor, Roche, Leda, Pastro, Lucía

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Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case report by Baltar, Federico, Simoes, Camila, Garagorry, Francisco, Graña, Martín, Rodríguez, Soledad, Haydée Aunchayna, María, Tapié, Alejandra, Cerisola, Alfredo, González, Gabriel, Naya, Hugo, Spangenberg, Lucía, Raggio, Víctor

“…BackgroundNeuronal Ceroid Lipofuscinosis (NCL) disorders, recognized as the primary cause of childhood dementia globally, constitute a spectrum of genetic…”
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