Click in the links for access to the pdfs.

“Progress and Harmonization of Gene Editing to Treat Human Diseases (Proceeding of COST Action CA21113 GenE-HumDi)” A Cavazza, A Hendel, R O Bak, P Rio, M Güell, D Lainšček, V Arechavala-Gomeza, L Peng, F Zehra Hapil, J Harvey, F G Ortega, C Gonzalez-Martinez, C W Lederer, K Mikkelsen, G Gasiunas, N Kalter, M AFV Gonçalves, J Petersen, A Garanto, L Montoliu, M Maresca, S E Seemann, J Gorodkin, L Mazini, R Sanchez, J R Rodriguez-Madoz, N Maldonado-Pérez, Torella Laura, M Schmueck-Henneresse, C Maccalli, J Grünewald, G Carmona, N Kachamakova-Trojanowska, A Miccio, F Martin, G Turchiano, T Cathomen, Y Luo, S Q Tsai, K Benabdellah. October 2023 Molecular Therapy-Nucleic Acids.


“Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model” J Poyatos-Garcia, P Soblechero-Martin, A Liquori, A Lopez-Martinez, E Gonzalez-Romero, RP Vazquez-Manrique, N Muelas, G Garcia-Garcia, J Ohana, V Arechavala-Gomeza, JJ Vilchez. Sept 2023 Preprint Biorxiv .


“Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics” Haiyan Zhou, Virginia Arechavala-Gomeza, and Alejandro Garanto. May 2023 Nucleic Acid Therapeutics.


Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides” A Goyenvalle, C Jimenez-Mallebrera, W van Roon, S Sewing, A M. Krieg, V Arechavala-Gomeza, and P Andersson. February 2023 Nucleic Acid Therapeutics.


miR-106b is a novel target to promote muscle regeneration and restore satellite stem cell function in injured Duchenne dystrophic muscle” L Rodriguez-Outeiriño, F Hernandez-Torres, F Ramirez de Acuña, A Rastrojo, C Creus, A Carvajal, L Salmeron, M Montolio, P Soblechero-Martin, V Arechavala-Gomeza, D Franco, AE Aranega. September 2022 Molecular Therapy-Nucleics Acids.


 “Chapter 6 – Lessons learned from developing an oligonucleotide drug for a rare disease”   P Soblechero-Martín & V Arechavala-Gomeza. April 2022 RNA Therapeutics: The Evolving Landscape of RNA Therapeutics, Elsevier chapter here.

  •  “Antisense RNA Design, Delivery and Analysis”   V Arechavala-Gomeza & Alejandro Garanto. February 2022 Methods in Molecular Biology Series, Springer: Open access whole book here.
  •  “Evaluation of exon skipping and dystrophin restoration in in vitro models of Duchenne muscular dystrophy”   Andrea López-Martínez, Patricia Soblechero-Martín, Virginia Arechavala-Gomeza. February 2022 Methods in Molecular Biology Series, Springer: Antisense RNA Design, Delivery and Analysis
  •  “Duchenne Muscular Dystrophy Cell Culture Models Created By CRISPR/Cas9 Gene Editing And Their Application To Drug Screening”   P Soblechero-Martin, E Albiasu-Arteta,   A Anton-Martinez,  L de la Puente-Ovejero, I Garcia-Jimenez,  G Gonzalez-Iglesias,  I Larranaga-Aiestaran,  A Lopez-Martinez,   J Poyatos-Garcia, E Ruiz-Del-Yerro, F Gonzalez,  V Arechavala-Gomeza. September 2021  Scientific Reports
  • “Duchenne Muscular Dystrophy Cell Culture Models Created By CRISPR/Cas9 Gene Editing And Their Application To Drug Screening”   P Soblechero-Martin, E Albiasu-Arteta,   A Anton-Martinez,  L de la Puente-Ovejero, I Garcia-Jimenez,  G Gonzalez-Iglesias,  I Larranaga-Aiestaran,  A Lopez-Martinez,   J Poyatos-Garcia, E Ruiz-Del-Yerro, F Gonzalez,  V Arechavala-Gomeza Jan 2021  Biorxiv version
  • “Sharing “Negative” Results in Neuromuscular Research: A Positive Experience” V Arechavala-Gomeza & A Aartsma-Rus. August 2021 Journal of Neuromuscular Diseases
  • “Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies” P Soblechero-Martín, A López Martínez, L de-la-Puente-Ovejero, A Vallejo-Illarramendi and V Arechavala-Gomeza. May 2021 Neuropathology and Applied Neurobiology
  • “Delivery of oligonucleotide‐based therapeutics: challenges and opportunities” SM Hammond, A Aartsma-Rus, S Alves, S Even Borgos, R.A.M. Buijsen, R W. J. Collin, G Covello, M A. Denti, L R Desviat, L Echevarría, C Foged, G Gaina, A Garanto, A T. Goyenvalle, M Guzowska, I Holodnuka, DR Jones, S Krause, T Lehto, M Montolio, W Van Roon-Mom and V Arechavala-Gomeza. April 2021 EMBO Mol Medicine
  •   Special Issue “Genetic Advances in Neuromuscular Disorders: From Gene Identification to Gene Therapy” V Arechavala-Gomeza; L Gonzalez-Quereda. February 2021 Genes
  •  “The Biomarker Potential of miRNAs in Myotonic Dystrophy Type I” E Koehorst; A Ballester-Lopez; V Arechavala-Gomeza; A Martínez-Piñeiro; G Nogales-Gadea. December 2020 Journal of Clinical Medicine
  •  “Joining European Scientific Forces to Face Pandemics”M. H. Vasconcelos, S Alcaro, V Arechavala-Gomeza, J Baumbach, F Borges, T.A.L Brevini, J De Las Rivas, Y Devaux, P Hozak, M M. Keinänen-Toivola, G Lattanzi, T Mohr, M Murovska, B K. Prusty, R A. Quinlan, D Pérez-Sala, C Scheibenbogen, H.H.W. Schmidt, I Silveira, P Tieri, A Tolios, C Riganti December 2020 Trends in Microbiology
  •  “An Overview of Alternative Splicing Defects Implicated in Myotonic Dystrophy Type I”A López-Martínez, P Soblechero-Martín, L de-la-Puente-Ovejero, G Nogales-Gadea, V Arechavala-Gomeza. September 2020 Genes
  •  “Researcher’s Perceptions on Publishing “Negative” Results and Open Access” L Echevarria, A Malerba, V Arechavala-Gomeza. August 2020 Nucleic Acid Therapeutics
  • “COST Actions: fostering collaborative research for rare diseases.” LR Desviat, C Jiménez-Mallebrera, A Vallejo-Illarramendi, MD Mayan, G Nogales-Gadea, V Arechavala-Gomeza. November 2019. Lancet Neurology
  • “Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.” A Aartsma-Rus, J Morgan, PLonkar, H Neubert4, J Owens, M Binks, M Montolio, R Phadke, N Datson, J Van Deutekom, G E Morris,V. A Rao, E P. Hoffman,  F Muntoni*, V Arechavala-Gomeza January 2019 Journal of Neuromuscular Diseases

“A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures” M. Hiller, M. S. Falzarano, I. Garcia-Jimenez, V.  Sardone, R. C. Verheul, L.  Popplewell, K. Anthony, E. Ruiz-Del-Yerro, H. Osman, J. J. Goeman, K. Mamchaoui, G.  Dickson, A. Ferlini, F. Muntoni, A. Aartsma-Rus, V. Arechavala-Gomeza, N. A. Datson, P. Spitali. October 2018 PlOS ONE

  • “Why dystrophin quantification is key in the eteplirsen saga” A.Aartsma-Rus & V. Arechavala-Gomeza. July 2018 Nature Reviews Neurology
  • “Myoblots: dystrophin quantification by in-cell western assay for a streamlined development of DMD treatments”. E. Ruiz-Del-Yerro, Garcia-Jimenez I, Arechavala-Gomeza V, Oct 2017 Neuropath and Applied Neurobiol
  • “Delivery is key: lessons learnt from developing splice-switching antisense therapies.”  C. Godfrey, L. R Desviat, B. Smedsrød, F. Piétri-Rouxel, M. A. Denti, P. Disterer, S. Lorain, G. Nogales-Gadea, V. Sardone, R. Anwar, S. El Andaloussi, T. Lehto, B. Khoo, C. Brolin, W M.C.van Roon-Mom, A.Goyenvalle, A. Aartsma-Rus, V. Arechavala-Gomeza May 2017 EMBO Mol Med
  • “Stakeholder cooperation to overcome challenges in orphan medicine development: the example of Duchenne muscular dystrophy”.  Straub V, Balabanov P, Bushby K, Ensini M, Goemans N, De Luca A, Pereda A, Hemmings R, Campion G, Haas M, Kaye E, Arechavala-Gomeza V, et al  July 2016 The Lancet Neurology; 8: 882-980
  • Arechavala-Gomeza V*, Khoo B*, Aartsma-Rus A* “Exon skipping therapy in the treatment of genetic diseases” *Equal contribution. December 2014 The Application of Clinical Genetics
  • Anthony K*, Arechavala-Gomeza V*, Taylor LE, Vulin A, Kaminoh Y, Torelli S, Feng L, Janghra N, Bonne G, Beuvin RS , Barresi R, Henderson M, Laval S, Lourbakos A, Campion G, Straub V, Voit T, Sewry C, Morgan J, Flanigan K, Muntoni F. “Dystrophin quantification: biological and translational research implications” *Equal contribution. Nov 2014 Neurology
  • Anthony K, Arechavala-Gomeza V, Ricotti V, Torelli S, Feng L, Janghra N, Tasca G, Guglieri M, Barresi R, Armaroli A, Ferlini A, , Bushby K, Straub V, Ricci E, Sewry C, Morgan J, Muntoni F. “Biochemical characterisation of patients with in- or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping” Jan 2014 JAMA Neurology (Archives of Neurology)
  • Anthony K, Feng L, Arechavala-Gomeza V, Guglieri M, Straub V, Bushby K, Cirak S, Morgan J, Muntoni F “Exon Skipping Quantification by qRT-PCR in Duchenne Muscular Dystrophy Patients Treated with the Antisense Oligomer Eteplirsen” Nov 2012 Human Gene Therapy Methods
  • Arechavala-Gomeza V, Feng L, Morgan JE, Muntoni F. “Antisense Measuring Dystrophin-faster is not necessarily better.” CORRESPONDENCE. August 2012 Nature Reviews Neurology
  • Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F “Antisense Oligonucleotide-Mediated Exon Skipping for Duchenne Muscular Dystrophy: Progress and Challenges.” June 2012 Current Gene Therapy 2012
  • Virginia Arechavala-Gomeza, Sebahattin Cirak, Karen Anthony, Jennifer Morgan, Francesco Muntoni. “Exon-skipping therapy for Duchenne muscular dystrophy – Authors’ reply.” CORRESPONDENCE. Jan. 2012 Lancet.
  • Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, Morgan JE, Muntoni F. “Restoration of the Dystrophin-associated Glycoprotein Complex After Exon Skipping Therapy in Duchenne Muscular Dystrophy.” Jan 2012 Molecular Therapy
  • Anthony K, Cirak S, Torelli S, Tasca G, Feng L, Arechavala-Gomeza V, Armaroli A, Guglieri M, Straathof CS, Verschuuren JJ, Aartsma-Rus A, Helderman-van den Enden P, Bushby K, Straub V, Sewry C, Ferlini A, Ricci E, Morgan JE, Muntoni F. “Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.” Nov 2011 Brain
  • Cirak S*, Arechavala-Gomeza* V, Guglieri M, Feng L, Torelli S, Anthony K, Abbs S, Garralda ME, Bourke J, Wells DJ, Dickson G, Wood MJ, Wilton SD, Straub V, Kole R, Shrewsbury SB, Sewry C, Morgan JE, Bushby K, Muntoni F. “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”. *Equal contribution. August 2011 Lancet
  • Malerba A, Sharp PS, Graham IR, Arechavala-Gomeza V, Foster K, Muntoni F, Wells DJ, Dickson G. “Chronic systemic therapy with low-dose morpholino oligomers ameliorates the pathology and normalizes locomotor behavior in mdx mice.” Feb 2011 Molecular Therapy
  • Kinali M, Arechavala-Gomeza V, Cirak S, Glover A, Guglieri M, Feng L, Hollingsworth KG, Hunt D, Jungbluth H, Roper HP, Quinlivan RM, Gosalakkal JA, Jayawant S, Nadeau A, Hughes-Carre L, Manzur AY, Mercuri E, Morgan JE, Straub V, Bushby K, Sewry C, Rutherford M, Muntoni F. “Muscle histology vs MRI in Duchenne muscular dystrophy.”Jan 2011 Neurology
  • Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F. “Immunohistological intensity measurements as a tool to assess sarcolemma- associated protein expression.” June 2010 Neuropathology and Applied Neurobiololgy
  • Arechavala-Gomeza V, Kinali M, Feng L, Guglieri M, Edge G, Main M, Hunt D, Lehovsky J, Straub V, Bushby K, Sewry CA, Morgan JE, Muntoni F. “Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials.” May 2010 Neuromuscular Disorders
  • Popplewell LJ, Adkin C, Arechavala-Gomeza V, Aartsma-Rus A, de Winter CL, Wilton SD, Morgan JE, Muntoni F, Graham IR, Dickson G. “Comparative analysis of antisense oligonucleotide sequences targeting exon 53 of the human DMD gene: Implications for future clinical trials.” Feb 2010 Neuromuscular Disorders
  • Meng J, Adkin CF, Arechavala-Gomeza V, Boldrin L, Muntoni F, Morgan JE. “The contribution of human synovial stem cells to skeletal muscle regeneration” Jan 2010 Neuromuscular Disorders
  • Walmsley GL, Arechavala-Gomeza V, Fernandez-Fuente M, Burke MM, Nagel N, Holder A, Stanley R, Chandler K, Marks SL, Muntoni F, Shelton GD, Piercy RJ. “A Duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping.” Jan 2010 PLoS One
  • Kinali M*, Arechavala-Gomeza* V, Feng L, Cirak S, Hunt D, Adkin C, Guglieri M, Ashton E, Abbs S, Nihoyannopoulos P, Garralda ME, Rutherford M, McCulley C, Popplewell L, Graham IR, Dickson G, Wood MJ, Wells DJ, Wilton SD, Kole R, Straub V, Bushby K, Sewry C, Morgan JE, Muntoni F. “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”. *Equal contribution. Oct 2009 Lancet Neurology
  • Arechavala-Gomeza V, Graham IR, Popplewell LJ, Adams AM, Aartsma-Rus A, Kinali M, Morgan JE, van Deutekom JC, Wilton SD, Dickson G, Muntoni F. “Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle.” Sept 2007 Human Gene Therapy.


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