Search Results - "Larasati, Yonika A."

Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R by Larasati, Yonika A, Solis, Gonzalo P, Koval, Alexey, Griffiths, Silja T, Berentsen, Ragnhild, Aukrust, Ingvild, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothée, Korff, Christian M, Katanaev, Vladimir L

“…De novo mutations in , the gene encoding the major neuronal G protein Gαo, cause a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and…”
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GNAO1 Mutations Affecting the N‐Terminal α‐Helix of Gαo Lead to Parkinsonism by Solis, Gonzalo P., Larasati, Yonika A., Thiel, Moritz, Koval, Alexey, Koy, Anne, Katanaev, Vladimir L.

“…Background Patients carrying pathogenic variants in GNAO1 present a phenotypic spectrum ranging from severe early‐onset epileptic encephalopathy and…”
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Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation by Lasa‐Aranzasti, Amaia, Larasati, Yonika A., Silva Cardoso, Juliana, Solis, Gonzalo P., Koval, Alexey, Cazurro‐Gutiérrez, Ana, Ortigoza‐Escobar, Juan Dario, Miranda, Maria Concepción, De la Casa‐Fages, Beatriz, Moreno‐Galdó, Antonio, Tizzano, Eduardo F., Gómez‐Andrés, David, Verdura, Edgard, Katanaev, Vladimir L., Pérez‐Dueñas, Belén, Cancho Candela, Ramón, Martinez, Jorge Pantoja, Cáceres‐Marzal, Cristina, Martí Carrera, Itxaso, Duat‐Rodriguez, Ana, Camacho, Ana

“…Background Defects in GNAO1, the gene encoding the major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders…”
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Pediatric GNAO1 encephalopathies: from molecular etiology of the disease to drug discovery by Katanaev, Vladimir, Valnohova, Jana, Silachev, Denis, Larasati, Yonika, Koval, Alexey

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In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening by Koval, Alexey, Larasati, Yonika A, Savitsky, Mikhail, Solis, Gonzalo P, Good, Jean-Marc, Quinodoz, Mathieu, Rivolta, Carlo, Superti-Furga, Andrea, Katanaev, Vladimir L

“…The GNAO1 gene, encoding the major neuronal G protein Gαo, is mutated in a subset of pediatric encephalopathies. Most such mutations consist of missense…”
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Restoration of the GTPase activity and cellular interactions of Gαo mutants by Zn2+ in GNAO1 encephalopathy models by Larasati, Yonika A, Savitsky, Mikhail, Koval, Alexey, Solis, Gonzalo P, Valnohova, Jana, Katanaev, Vladimir L

“…De novo point mutations in GNAO1 , gene encoding the major neuronal G protein Gα o , have recently emerged in patients with pediatric encephalopathy having…”
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Restoration of the GTPase activity and cellular interactions of Gα o mutants by Zn 2+ in GNAO1 encephalopathy models by Larasati, Yonika A., Savitsky, Mikhail, Koval, Alexey, Solis, Gonzalo P., Valnohova, Jana, Katanaev, Vladimir L.

“…De novo point mutations in GNAO1 , gene encoding the major neuronal G protein Gα o , have recently emerged in patients with pediatric encephalopathy having…”
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Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing IGNAO1/I Mutation P170R by Larasati, Yonika A, Solis, Gonzalo P, Koval, Alexey, Griffiths, Silja T, Berentsen, Ragnhild, Aukrust, Ingvild, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothée, Korff, Christian M, Katanaev, Vladimir L

“…De novo mutations in GNAO1, the gene encoding the major neuronal G protein Gαo, cause a spectrum of pediatric encephalopathies with seizures, motor…”
Get full text