Хайлтын үр дүнгүүд - Alejandro Garanto

Үр дүнг сайжруулах
  1. 1
    Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges

    Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges -н Irene Vázquez-Domínguez, Alejandro Garanto, Rob W.J. Collin

    Хэвлэсэн 2019
    Бүрэн текст авах Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  2. 2
    Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease

    Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease -н Alejandro Garanto, Lonneke Duijkers, Tomasz Z. Tomkiewicz, Rob W.J. Collin

    Хэвлэсэн 2019
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  3. 3
    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

    Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4 -н Tomasz Z. Tomkiewicz, Nuria Suárez-Herrera, Frans P.M. Cremers, Rob W.J. Collin, Alejandro Garanto

    Хэвлэсэн 2021
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  4. 4
    Retina-on-Chip: Engineering Functional in vitro Models of the Human Retina using Organ-on-Chip Technology

    Retina-on-Chip: Engineering Functional in vitro Models of the Human Retina using Organ-on-Chip Technology -н Tarek Gensheimer, Devin Veerman, Edwin van Oosten, Loes I. Segerink, Alejandro Garanto, Andries D. van der Meer

    Хэвлэсэн 2025
    Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  5. 5
    Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

    Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis -н Alejandro Garanto, Sylvia E. C. van Beersum, Theo Peters, Ronald Roepman, Frans P.M. Cremers, Rob W.J. Collin

    Хэвлэсэн 2013
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  6. 6
    Specific sphingolipid content decrease in Cerkl knockdown mouse retinas

    Specific sphingolipid content decrease in Cerkl knockdown mouse retinas -н Alejandro Garanto, Nawajes Mandal, Meritxell Egido‐Gabás, Gemma Marfany, Gemma Fabriàs, Robert E. Anderson, Josefina Casas, Roser Gonzàlez‐Duarte

    Хэвлэсэн 2013
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  7. 7
    A look into retinal organoids: methods, analytical techniques, and applications

    A look into retinal organoids: methods, analytical techniques, and applications -н Tess A. V. Afanasyeva, Julio C. Corral-Serrano, Alejandro Garanto, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin

    Хэвлэсэн 2021
    Бүрэн текст авах Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  8. 8
    <i>In vitro</i>and<i>in vivo</i>rescue of aberrant splicing in<i>CEP290</i>-associated LCA by antisense oligonucleotide delivery

    <i>In vitro</i>and<i>in vivo</i>rescue of aberrant splicing in<i>CEP290</i>-associated LCA by antisense oligonucleotide delivery -н Alejandro Garanto, Daniel C. Chung, Lonneke Duijkers, Julio C. Corral-Serrano, Muriël Messchaert, Ru Xiao, Jean Bennett, Luk H. Vandenberghe, Rob W.J. Collin

    Хэвлэсэн 2016
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  9. 9
    Implications of genetic variation in the complement system in age-related macular degeneration

    Implications of genetic variation in the complement system in age-related macular degeneration -н Sarah de Jong, Giuliana Gagliardi, Alejandro Garanto, Anita de Breuk, Yara Lechanteur, Suresh Katti, Lambert P. van den Heuvel, Elena B. Volokhina, Anneke I. den Hollander

    Хэвлэсэн 2021
    Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  10. 10
    Consensus Guidelines for the Design and <i>In Vitro</i> Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

    Consensus Guidelines for the Design and <i>In Vitro</i> Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides -н Annemieke Aartsma‐Rus, Alejandro Garanto, Willeke M. C. van Roon‐Mom, Erin M. McConnell, Victoria Suslovitch, Winston X. Yan, Jonathan K. Watts, Timothy W. Yu

    Хэвлэсэн 2022
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  11. 11
    Exploring genotype–phenotype correlations in glutaric aciduria type 1

    Exploring genotype–phenotype correlations in glutaric aciduria type 1 -н Imke M. E. Schuurmans, Bianca Dimitrov, Julian Schröter, Antònia Ribes, Rubén Pérez de la Fuente, Berta Zamora, Clara D.M. van Karnebeek, Stefan Kölker, Alejandro Garanto

    Хэвлэсэн 2023
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  12. 12
    Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

    Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease -н Sílvia Albert, Alejandro Garanto, Riccardo Sangermano, Mubeen Khan, Nathalie M. Bax, Carel B. Hoyng, Jana Zernant, Winston Lee, Rando Allikmets, Rob W.J. Collin, Frans P.M. Cremers

    Хэвлэсэн 2018
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  13. 13
    <i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

    <i>ABCA4</i> midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease -н Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis, Valerie Richelle, Sílvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L. Ingeborgh van den Born, Rob W.J. Collin, Frans P.M. Cremers

    Хэвлэсэн 2017
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  14. 14
    CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids

    CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids -н Tess A. V. Afanasyeva, Dimitra Athanasiou, Pedro R.L. Perdigão, Katherine Whiting, Lonneke Duijkers, Galuh Astuti, Jean Bennett, Alejandro Garanto, Jacqueline van der Spuy, Ronald Roepman, Michael E. Cheetham, Rob W.J. Collin

    Хэвлэсэн 2023
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  15. 15
    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

    Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation -н Radulfus WN Slijkerman, Christel Vaché, Margo Dona, Gema García‐García, Mireille Claustres, Lisette Hetterschijt, Theo Peters, Bas P. Hartel, Ronald J. E. Pennings, José M Millan, Elena Aller, Alejandro Garanto, Rob W.J. Collin, Hannie Kremer, Anne‐Françoise Roux, Erwin van Wijk

    Хэвлэсэн 2016
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  16. 16
    Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A&gt;G LCA10 Models

    Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A&gt;G LCA10 Models -н Kalyan Dulla, Mònica Aguilà, Amelia Lane, Katarina Jovanović, David A. Parfitt, Iris A. Schulkens, Hee Lam Chan, Iris Schmidt, Wouter Beumer, Lars Vorthoren, Rob W.J. Collin, Alejandro Garanto, Lonneke Duijkers, Anna Brugulat-Panés, Ma’ayan Semo, Anthony Vugler, Patricia Biasutto, Peter Adamson, Michael E. Cheetham

    Хэвлэсэн 2018
    Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  17. 17
    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

    Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease -н Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Sílvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan Hau, Edward Bloch, Elena Schiff, Davide Piccolo, Michael Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  18. 18
    Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations -н Almudena Ávila‐Fernández, Raquel Pérez-Carro, Marta Cortón, María Isabel López-Molina, Laura Campello, Alejandro Garanto, Laura Fernández‐Sánchez, Lonneke Duijkers, Miguel Ángel López-Martínez, Rosa Riveiro-Álvarez, Luciana Rodrigues Jacy da Silva, Rocío Sánchez-Alcudia, Esther Martín-Garrido, Noelia Reyes, Francisco García‐García, Joaquı́n Dopazo, Blanca García‐Sandoval, Rob W.J. Collin, Nicolás Cuenca, Carmen Ayuso

    Хэвлэсэн 2015
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:
  19. 19
    Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

    Delivery of oligonucleotide‐based therapeutics: challenges and opportunities -н Suzan M. Hammond, Annemieke Aartsma‐Rus, Sandra Alves, Sven Even Borgos, Ronald A.M. Buijsen, Rob W.J. Collin, Giuseppina Covello, Michela A. Denti, Lourdes R. Desviat, Lucía Echevarría, Camilla Foged, Gisela Găină, Alejandro Garanto, Aurélie Goyenvalle, Magdalena Guzowska, Irina Kholodnyuk, D. I. Jones, Sabine Krause, Taavi Lehto, Marisol Montolio, Willeke M. C. van Roon‐Mom, Virginia Arechavala‐Gomeza

    Хэвлэсэн 2021
    Бүрэн текст авах Бүрэн текст авах
    Revisão
    Жагсаалт руу хадгалах
    -д хадгалсан:
  20. 20
    PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

    PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation -н Julio C. Corral-Serrano, Ideke J.C. Lamers, Jeroen van Reeuwijk, Lonneke Duijkers, Anita D. M. Hoogendoorn, Adem Yıldırım, Nikoleta Argyrou, Renate A.A.A. Ruigrok, Stef J.F. Letteboer, Rossano Butcher, Max D. van Essen, Sanae Sakami, Sylvia E. C. van Beersum, Krzysztof Palczewski, Michael E. Cheetham, Qin Liu, Karsten Boldt, Uwe Wolfrum, Marius Ueffing, Alejandro Garanto, Ronald Roepman, Rob W.J. Collin

    Хэвлэсэн 2020
    Бүрэн текст авах Бүрэн текст авах
    Artigo
    Жагсаалт руу хадгалах
    -д хадгалсан:

Хайх хэрэгслүүд: