Russell D. Johnsen

Crawley, WA, Australia

Last Updated: 09/26/2026

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Found 14 publications

Developing Therapeutic Splice-Correcting Antisense Oligomers for Adult-Onset Pompe Disease with c.-32-13T>G Mutation.

Developing Therapeutic Splice-Correcting Antisense Oligomers for Adult-Onset Pompe Disease with c.-32-13T>G Mutation.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: November 18, 2022

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.

Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.

Journal: Neuropathology and applied neurobiology

Published: February 25, 2022

Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model.

Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model.

Journal: Frontiers in pharmacology

Published: February 03, 2022

Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene.

Single Exon Skipping Can Address a Multi-Exon Duplication in the Dystrophin Gene.

Journal: International journal of molecular sciences

Published: June 10, 2020

Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein.

Morpholino Oligomer-Induced Dystrophin Isoforms to Map the Functional Domains in the Dystrophin Protein.

Journal: Molecular therapy. Nucleic acids

Published: March 12, 2020

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease.

Journal: Scientific reports

Published: January 06, 2020

Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides.

Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides.

Journal: Scientific reports

Published: May 13, 2019

Expanding the phenotype of GMPPB mutations.

Expanding the phenotype of GMPPB mutations.

Journal: Brain : a journal of neurology

Published: February 15, 2015

Antisense oligonucleotide induction of progerin in human myogenic cells.

Antisense oligonucleotide induction of progerin in human myogenic cells.

Journal: PloS one

Published: January 23, 2014

Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.

Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.

Journal: International journal of clinical and experimental pathology

Published: September 19, 2013

Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis.

Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis.

Journal: International journal of clinical and experimental pathology

Published: July 17, 2013

Primary over-expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK-AβPP transgenic mouse.

Primary over-expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK-AβPP transgenic mouse.

Journal: International journal of experimental pathology

Published: April 05, 2013

Showing 1-12 of 14

Last Updated: 09/26/2026