Antisense-mediated splice intervention to treat human disease: the odyssey continues

por Pitout, Ianthe, Flynn, Loren L., Wilton, Steve D., Fletcher, Sue
Publicado 2019

Short structural variants as informative genetic markers for ALS disease risk and progression

por Theunissen, Frances, Flynn, Loren L., Anderton, Ryan S., Akkari, P. Anthony
Publicado 2022

Antisense Oligonucleotide-Mediated Terminal Intron Retention of the SMN2 Transcript

por Flynn, Loren L., Mitrpant, Chalermchai, Pitout, Ianthe L., Fletcher, Sue, Wilton, Steve D.
Publicado 2018

Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

por Roberts, Bradley, Theunissen, Frances, Mastaglia, Francis L., Akkari, P. Anthony, Flynn, Loren L.
Publicado 2022

ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?

por Mejzini, Rita, Flynn, Loren L., Pitout, Ianthe L., Fletcher, Sue, Wilton, Steve D., Akkari, P. Anthony
Publicado 2019

Targeted SMN Exon Skipping: A Useful Control to Assess In Vitro and In Vivo Splice-Switching Studies

por Flynn, Loren L., Mitrpant, Chalermchai, Adams, Abbie, Pitout, Ianthe L., Stirnweiss, Anja, Fletcher, Sue, Wilton, Steve D.
Publicado 2021

Systematic Approach to Developing Splice Modulating Antisense Oligonucleotides

por Aung-Htut, May T., McIntosh, Craig S., Ham, Kristin A., Pitout, Ianthe L., Flynn, Loren L., Greer, Kane, Fletcher, Sue, Wilton, Steve D.
Publicado 2019

Structural Variants May Be a Source of Missing Heritability in sALS

por Theunissen, Frances, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank, Pytte, Julia, Jiang, Leanne, Hodgetts, Stuart, Burns, Daniel K., Saunders, Ann, Fletcher, Sue, Wilton, Steve D., Akkari, Patrick Anthony
Publicado 2020

Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis

por Pytte, Julia, Anderton, Ryan S., Flynn, Loren L., Theunissen, Frances, Jiang, Leanne, Pitout, Ianthe, James, Ian, Mastaglia, Frank L., Saunders, Ann M., Bedlack, Richard, Siddique, Teepu, Siddique, Nailah, Akkari, P. Anthony
Publicado 2020

Single Stranded Fully Modified-Phosphorothioate Oligonucleotides can Induce Structured Nuclear Inclusions, Alter Nuclear Protein Localization and Disturb the Transcriptome In Vitro

por Flynn, Loren L., Li, Ruohan, Pitout, Ianthe L., Aung-Htut, May T., Larcher, Leon M., Cooper, Jack A. L., Greer, Kane L., Hubbard, Alysia, Griffiths, Lisa, Bond, Charles S., Wilton, Steve D., Fox, Archa H., Fletcher, Sue
Publicado 2022

Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort

por Pytte, Julia, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank L., Theunissen, Frances, James, Ian, Pfaff, Abigail, Koks, Sulev, Saunders, Ann M., Bedlack, Richard, Burns, Daniel K., Lutz, Michael W., Siddique, Nailah, Siddique, Teepu, Roses, Allen D., Akkari, P. Anthony
Publicado 2020

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

por Theunissen, Frances, Anderton, Ryan S., Mastaglia, Frank L., Flynn, Loren L., Winter, Samantha J., James, Ian, Bedlack, Richard, Hodgetts, Stuart, Fletcher, Sue, Wilton, Steve D., Laing, Nigel G., MacShane, Mandi, Needham, Merrilee, Saunders, Ann, Mackay-Sim, Alan, Melamed, Ze’ev, Ravits, John, Cleveland, Don W., Akkari, P. Anthony
Publicado 2021