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Alejandro Garanto

Showing results (61-70 of 82) with videos related to

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Communications Medicine|January 21, 2025
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt diseaseDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Molecular Therapy. Nucleic Acids|October 29, 2025
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsyImke M E Schuurmans, Udo Engelke, Muna Abedrabbo, et al.
Molecular Therapy. Nucleic Acids|November 2, 2016
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic MutationRadulfus Wn Slijkerman, Christel Vaché, Margo Dona, et al.
Molecular Therapy. Nucleic Acids|November 4, 2024
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in <i>ABCA4</i>Irene Vázquez-Domínguez, Mert Öktem, Florian A Winkelaar, et al.
Cells|November 26, 2022
The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific MannerIrene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
International Journal of Molecular Sciences|May 13, 2023
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy HomeostasisFederica Conte, Angel Ashikov, Rachel Mijdam, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
EMBO Molecular Medicine|April 6, 2021
Delivery of oligonucleotide-based therapeutics: challenges and opportunitiesSuzan M Hammond, Annemieke Aartsma-Rus, Sandra Alves, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
Communications Medicine|January 21, 2025
Preclinical assessment of splicing modulation therapy for ABCA4 variant c.768G>T in Stargardt diseaseDyah W Karjosukarso, Femke Bukkems, Lonneke Duijkers, et al.
Molecular Therapy. Nucleic Acids|October 29, 2025
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine-dependent epilepsyImke M E Schuurmans, Udo Engelke, Muna Abedrabbo, et al.
Molecular Therapy. Nucleic Acids|November 2, 2016
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic MutationRadulfus Wn Slijkerman, Christel Vaché, Margo Dona, et al.
Molecular Therapy. Nucleic Acids|November 4, 2024
Lipopeptide-mediated Cas9 RNP delivery: A promising broad therapeutic strategy for safely removing deep-intronic variants in <i>ABCA4</i>Irene Vázquez-Domínguez, Mert Öktem, Florian A Winkelaar, et al.
Cells|November 26, 2022
The Predicted Splicing Variant c.11+5G>A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific MannerIrene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, et al.
Ophthalmology|March 16, 2016
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt DiseaseRiccardo Sangermano, Nathalie M Bax, Miriam Bauwens, et al.
Molecular Therapy. Nucleic Acids|August 17, 2018
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 ModelsKalyan Dulla, Monica Aguila, Amelia Lane, et al.
International Journal of Molecular Sciences|May 13, 2023
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy HomeostasisFederica Conte, Angel Ashikov, Rachel Mijdam, et al.
Molecular Therapy. Nucleic Acids|July 13, 2020
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt DiseaseMubeen Khan, Gavin Arno, Ana Fakin, et al.
EMBO Molecular Medicine|April 6, 2021
Delivery of oligonucleotide-based therapeutics: challenges and opportunitiesSuzan M Hammond, Annemieke Aartsma-Rus, Sandra Alves, et al.
Pageof 9