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8 results for Gabaldon-Albero,+Alba

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ArticlesPeer ReviewedFull Text
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
Author / Creator:Gabaldon-Albero, Alba ; Martin-Grau, Carla ; Marti-Masanet, Miguel ; Lopez-Jimenez, Alejandro ; Llorens, Roberto ; Beseler-Soto, Beatriz ; Martin-Zamora, Sergio ; Lopez, Berta ; Calvo, Inmaculada ; Hernandez-Muela, Sara ; Rosello, Monica ; Orellana, Carmen ; Martinez, Francisco
Publisher:England: BioMed Central Ltd
Journal title:Pediatric rheumatology online journal, 2024-12, Vol.22 (1), p.110-7, Article 110
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Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases
Author / Creator:Orellana, Carmen ; Rosello, Monica ; Sanchis, Amparo ; Pedrola, Laia ; Martín-Grau, Carla ; Gabaldón-Albero, Alba ; Senent, Maria Leonor ; Such, Esperanza ; García-Ruiz, Cristian ; Avetisyan, Gayane ; Martínez, Francisco
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (3), p.1244
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NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies
Author / Creator:Gabaldon-Albero, Alba ; Mayo, Sonia ; Martinez, Francisco
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2024-05, Vol.25 (10), p.5198
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Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants
Author / Creator:Gabaldón-Albero, Alba ; Smeyers, Patricia ; Hernández-Muela, Sara ; Roselló, Mónica ; Orellana, Carmen ; Monfort, Sandra ; Oltra, Silvestre ; Martínez, Francisco
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-10, Vol.15 (10), p.1312
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INR4A2/I as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies
Author / Creator:Gabaldon-Albero, Alba ; Mayo, Sonia ; Ma
Publisher:MDPI AG
Journal title:International journal of molecular sciences, 2024-05, Vol.25 (10)
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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern
Author / Creator:Gabaldon-Albero, Alba ; Cordon, Lourdes ; Sempere, Amparo ; Pedrola, Laia ; Martin-Grau, Carla ; Oltra, Silvestre ; Monfort, Sandra ; Caro-Llopis, Alfonso ; Dominguez-Martinez, Marta ; Hernandez-Muela, Sara ; Rosello, Monica ; Orellana, Carmen ; Martinez, Francisco
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2024-06, Vol.15 (6), p.802
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ReportsFull Text
Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants
Author / Creator:Gabaldon-Albero, Alba ; Smeyers, Patricia ; Hernandez-Muela, Sara ; Rosello, Monica ; Orellana, Carmen ; Monfort, Sandra ; Oltra, Silvestre ; Martinez, Francisco
Publisher:MDPI AG
Journal title:Genes, 2024, Vol.15 (10)
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ReportsFull Text
Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period
Author / Creator:Gabaldon-Albero, Alba ; Martin-Grau, Carla ; Marti-Masanet , Miguel ; Lopez-Jimenez, Alejandro ; Llorens, Roberto ; Beseler-Soto, Beatriz ; Martin-Zamora, Sergio ; Lopez, Berta ; Calvo, Inmaculada ; Hernandez-Muela, Sara ; Rosello, Monica ; Orellana, Carmen ; Martinez, Francisco
Publisher:BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2024, Vol.22 (1)
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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period

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Utility of Optical Genome Mapping for Accurate Detection and Fine-Mapping of Structural Variants in Elusive Rare Diseases

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NR4A2 as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

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Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants

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INR4A2/I as a Novel Target Gene for Developmental and Epileptic Encephalopathy: A Systematic Review of Related Disorders and Therapeutic Strategies

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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 Caused by a Novel PIGA Variant Not Associated with a Skewed X-Inactivation Pattern

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Triplication of the PCDH19 Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants

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Aicardi-Goutières syndrome type 6: report of ADAR variant and clinical outcome after ruxolitinib treatment in the neonatal period

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