First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
Moreno‐García, Marta, Arteche‐López, Ana Rosa, Álvarez‐Mora, María Isabel, Palma Milla, Carmen, Quesada Espinosa, Juan Francisco, Lezana Rosales, José Miguel, Sánchez Calvín, María Teresa, Gómez Manjón, Irene, Gómez Rodríguez, María José, Mendez‐Guerrero, Antonio, Villarejo‐Galende, Alberto
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
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Journal Article
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta
Published in International journal of molecular sciences (11.04.2022)
Published in International journal of molecular sciences (11.04.2022)
Get full text
Journal Article
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings
Alvarez-Mora, Maria Isabel, Blanco-Palmero, Victor Antonio, Quesada-Espinosa, Juan Francisco, Arteche-Lopez, Ana Rosa, Llamas-Velasco, Sara, Palma Milla, Carmen, Lezana Rosales, Jose Miguel, Gomez-Manjon, Irene, Hernandez-Lain, Aurelio, Jimenez Almonacid, Justino, Gil-Fournier, Belén, Ramiro-León, Soraya, González-Sánchez, Marta, Herrero-San Martín, Alejandro Octavio, Pérez-Martínez, David Andrés, Gómez-Tortosa, Estrella, Carro, Eva, Bartolomé, Fernando, Gomez-Rodriguez, Maria Jose, Sanchez-Calvin, María Teresa, Villarejo-Galende, Alberto, Moreno-Garcia, Marta
Published in International journal of molecular sciences (11.04.2022)
Published in International journal of molecular sciences (11.04.2022)
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First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection
Moreno-García, Marta, Arteche-López, Ana Rosa, Álvarez-Mora, María Isabel, Palma Milla, Carmen, Quesada Espinosa, Juan Francisco, Lezana Rosales, José Miguel, Sánchez Calvín, María Teresa, Gómez Manjón, Irene, Gómez Rodríguez, María José, Mendez-Guerrero, Antonio, Villarejo-Galende, Alberto
Published in American journal of medical genetics. Part A (01.02.2021)
Published in American journal of medical genetics. Part A (01.02.2021)
Get full text
Report