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List of works by Virginia Arechavala-Gomeza

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping

scientific article

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

scientific article published in PLoS ONE

An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I

scientific article published on 22 September 2020

Antisense oligonucleotide-mediated exon skipping for Duchenne muscular dystrophy: progress and challenges

scientific article published on June 2012

Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping

scientific article published in January 2014

Chapter 14 Familial amyotrophic lateral sclerosis

scientific article published on 01 January 2007

Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice

scientific article

Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle

scientific article published on September 2007

Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials

scientific article

Delivery is key: lessons learnt from developing splice-switching antisense therapies

scientific article

Duchenne muscular dystrophy cell culture models created by CRISPR/Cas9 gene editing and their application in drug screening

scientific article published on 14 September 2021

Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials

scientific article published on 18 November 2011

Dystrophin quantification: Biological and translational research implications

scientific article

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

scientific article

Exon skipping quantification by quantitative reverse-transcription polymerase chain reaction in Duchenne muscular dystrophy patients treated with the antisense oligomer eteplirsen

scientific article

Exon-skipping therapy for Duchenne muscular dystrophy – Authors' reply

scientific article published in The Lancet

G.P.12.11 Do revertants increase with age in Duchenne muscular dystrophy boys?

G.P.6.01 Establishing the parameters for clinical trials of antisense oligonucleotide therapy in Duchenne muscular dystrophy

Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression

article by Virginia Arechavala-Gomeza et al published 25 November 2009 in Neuropathology and Applied Neurobiology

Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study

scientific article

Measuring dystrophin—faster is not necessarily better

Muscle histology vs MRI in Duchenne muscular dystrophy

scientific article

Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of Duchenne muscular dystrophy (DMD) treatments

scientific article published on 31 October 2017

P01 Correlation of internally deleted dystrophin and dystrophin-associated protein expression with clinical severity in Becker muscular dystrophy

P03 Exon skipping and dystrophin restoration in Duchenne muscular dystrophy patients after systemic phosphorodiamidate morpholino oligomer treatment

P16 Towards a consensus on biochemical outcome measures for Duchenne muscular dystrophy clinical trials

P3.08 Induction of dystrophin in DMD patients by antisense oligonucleotide AVI-4658 restores the dystrophin glycoprotein complex

Quantifying dystrophin in cell culture: A method to accelerate preclinical assessment of DMD treatments

article

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

scientific article published on 01 January 2019

Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy

scientific article published on 15 November 2011

Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials

Splicing modulation therapy in the treatment of genetic diseases

scientific article

Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy.

scientific article published on July 2016

T.P.31 Biochemical and clinical variability of Becker muscular dystrophy: Predicting optimal target exons for exon skipping therapy in Duchenne muscular dystrophy

The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I

scientific article published on 04 December 2020

The contribution of human synovial stem cells to skeletal muscle regeneration

scientific article

Why dystrophin quantification is key in the eteplirsen saga

article published in 2018

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