Apurva Sarathy

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论文共 32 篇作者统计合作学者相似作者

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The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,James Collins,Cuixia Tian,Payam Mohassel,Sarah B Neuhaus,Dimah Saade,Benjamin T Cocanougher, Mary-Lynn Chu,Mena Scavina,Carla Grosmann,Randal Richardson, Brian D Kossak,Sidney M Gospe,Vikram Bhise,Gita Taurina,Baiba Lace,Monica Troncoso,Mordechai Shohat,Adel Shalata,Sophelia H S Chan,Manu Jokela,Johanna Palmio,Göknur Haliloğlu,Cristina Jou,Corine Gartioux,Herimela Solomon-Degefa,Carolin D Freiburg,Alvise Schiavinato,Haiyan Zhou,Sara Aguti,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

medRxiv : the preprint server for health sciences（2024）

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Optimized Allele-Specific Silencing of the Dominant-Negative COL6A1 G293R Substitution Causing Collagen VI-related Dystrophy

Astrid Brull,Apurva Sarathy,Veronique Bolduc,Grace S. Chen,Riley M. McCarty,Carsten G. Bonnemann

Molecular Therapy — Nucleic Acids（2024）

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Allele-specific CRISPR/Cas9 Editing Inactivates a Single Nucleotide Variant Associated with Collagen VI Muscular Dystrophy

Veronique Bolduc,Katherine Sizov,Astrid Brull,Eric Esposito,Grace S. Chen,Prech Uapinyoying,Apurva Sarathy,Kory R. Johnson,Carsten G. Bonnemann

Molecular Therapy — Nucleic Acidsno. 3 (2024): 102269-102269

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Addition of Mismatches in Guide RNA Design Increased Allele Selectivity in a Gene Editing Strategy to Suppress a Dominant-Negative Single Nucleotide COL6A1 Variant

Veronique Bolduc,Katherine Sizov,Astrid Brull,Eric Esposito,Prech Uapinyoying,Grace S. Chen,Apurva Sarathy, Kory Johnson,Carsten G. Bonnemann

MOLECULAR THERAPY（2022）

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A. Sarathy, A. Brull,V. Bolduc, G. Chen, R. McCarty,C. Bönnemann

Neuromuscular Disorders（2021）

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Allele-Specific Crispr/Cas9-Guide Rnas Inactivate A Dominant-Negative, Disease-Causing, Single Nucleotide Variant In Col6a1 Through Non-Homologous End Joining

Veronique Bolduc,Katherine Sizov,Prech Uapinyoying,Eric Esposito,Astrid Brull,Grace S. Chen,Apurva Sarathy, Kory Johnson,Carsten G. Bonnemann

MOLECULAR THERAPY（2021）

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Increasing Allele Selectivity Of Small Interfering Rnas To Target A Dominant-Negative Glycine Substitution Causing Collagen Vi-Related Dystrophy

Astrid Brull,Apurva Sarathy,Veronique Bolduc,Riley Mccarty,Carsten G. Bonnemann

NEUROMUSCULAR DISORDERS（2021）

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Allele-specific gene editing inactivates a dominant-negative, disease-causing, single nucleotide variant in COL6A1 through non-homologous end joining

V. Bolduc,K. Sizov,P. Uapinyoying,E. Esposito, A. Brull,G. Chen,A. Sarathy,K. Johnson,C. Bonnemann

NEUROMUSCULAR DISORDERS（2021）

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CONGENITAL MUSCULAR DYSTROPHIES P.197 Increasing allele selectivity of small interfering RNAs to target a dominant-negative glycine substitution causing a collagen VI-related dystrophy

A. Sarathy,V. Bolduc,C. Bönnemann

Neuromuscular Disorders (2020): S104-S105

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CONGENITAL MUSCULAR DYSTROPHIES

A. Sarathy,V. Bolduc,C. Bönnemann

Neuromuscular disorders (2020): S104-S104

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论文共 32 篇作者统计合作学者相似作者