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Items: 25


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

Aartsma-Rus A, Morgan J, Lonkar P, Neubert H, Owens J, Binks M, Montolio M, Phadke R, Datson N, Van Deutekom J, Morris GE, Rao VA, Hoffman EP, Muntoni F, Arechavala-Gomeza V; workshop participants.

J Neuromuscul Dis. 2019;6(1):147-159. doi: 10.3233/JND-180357.


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

Hiller M, Falzarano MS, Garcia-Jimenez I, Sardone V, Verheul RC, Popplewell L, Anthony K, Ruiz-Del-Yerro E, Osman H, Goeman JJ, Mamchaoui K, Dickson G, Ferlini A, Muntoni F, Aartsma-Rus A, Arechavala-Gomeza V, Datson NA, Spitali P.

PLoS One. 2018 Oct 2;13(10):e0204485. doi: 10.1371/journal.pone.0204485. eCollection 2018.


Why dystrophin quantification is key in the eteplirsen saga.

Aartsma-Rus A, Arechavala-Gomeza V.

Nat Rev Neurol. 2018 Aug;14(8):454-456. doi: 10.1038/s41582-018-0033-8. No abstract available.


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

Ruiz-Del-Yerro E, Garcia-Jimenez I, Mamchaoui K, Arechavala-Gomeza V.

Neuropathol Appl Neurobiol. 2017 Oct 31. doi: 10.1111/nan.12448. [Epub ahead of print]


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

Godfrey C, Desviat LR, Smedsrød B, Piétri-Rouxel F, Denti MA, Disterer P, Lorain S, Nogales-Gadea G, Sardone V, Anwar R, El Andaloussi S, Lehto T, Khoo B, Brolin C, van Roon-Mom WM, Goyenvalle A, Aartsma-Rus A, Arechavala-Gomeza V.

EMBO Mol Med. 2017 May;9(5):545-557. doi: 10.15252/emmm.201607199. Review.


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, Kaye E, Arechavala-Gomeza V, Goyenvalle A, Niks E, Veldhuizen O, Furlong P, Stoyanova-Beninska V, Wood MJ, Johnson A, Mercuri E, Muntoni F, Sepodes B, Haas M, Vroom E, Aartsma-Rus A.

Lancet Neurol. 2016 Jul;15(8):882-890. doi: 10.1016/S1474-4422(16)30035-7. Review.


Splicing modulation therapy in the treatment of genetic diseases.

Arechavala-Gomeza V, Khoo B, Aartsma-Rus A.

Appl Clin Genet. 2014 Dec 4;7:245-52. doi: 10.2147/TACG.S71506. eCollection 2014. Review.


Dystrophin quantification: Biological and translational research implications.

Anthony K, Arechavala-Gomeza V, Taylor LE, Vulin A, Kaminoh Y, Torelli S, Feng L, Janghra N, Bonne G, Beuvin M, Barresi R, Henderson M, Laval S, Lourbakos A, Campion G, Straub V, Voit T, Sewry CA, Morgan JE, Flanigan KM, Muntoni F.

Neurology. 2014 Nov 25;83(22):2062-9. doi: 10.1212/WNL.0000000000001025. Epub 2014 Oct 29.


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

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.

JAMA Neurol. 2014 Jan;71(1):32-40. doi: 10.1001/jamaneurol.2013.4908.


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

Anthony K, Feng L, Arechavala-Gomeza V, Guglieri M, Straub V, Bushby K, Cirak S, Morgan J, Muntoni F.

Hum Gene Ther Methods. 2012 Oct;23(5):336-45. doi: 10.1089/hgtb.2012.117.


Correspondence: Measuring dystrophin-faster is not necessarily better.

Arechavala-Gomeza V, Feng L, Morgan JE, Muntoni F.

Nat Rev Neurol. 2012 Aug;8(8):469. doi: 10.1038/nrneurol.2012.15-c1. Epub 2012 Jul 10. No abstract available.


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

Arechavala-Gomeza V, Anthony K, Morgan J, Muntoni F.

Curr Gene Ther. 2012 Jun;12(3):152-60. Review.


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

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.

Brain. 2011 Dec;134(Pt 12):3547-59. doi: 10.1093/brain/awr291. Epub 2011 Nov 18. Erratum in: Brain. 2016 Apr;139(Pt 4):e27.


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

Cirak S, Feng L, Anthony K, Arechavala-Gomeza V, Torelli S, Sewry C, Morgan JE, Muntoni F.

Mol Ther. 2012 Feb;20(2):462-7. doi: 10.1038/mt.2011.248. Epub 2011 Nov 15.


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.

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.

Lancet. 2011 Aug 13;378(9791):595-605. doi: 10.1016/S0140-6736(11)60756-3. Epub 2011 Jul 23.


Muscle histology vs MRI in Duchenne muscular dystrophy.

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.

Neurology. 2011 Jan 25;76(4):346-53. doi: 10.1212/WNL.0b013e318208811f.


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

Malerba A, Sharp PS, Graham IR, Arechavala-Gomeza V, Foster K, Muntoni F, Wells DJ, Dickson G.

Mol Ther. 2011 Feb;19(2):345-54. doi: 10.1038/mt.2010.261. Epub 2010 Nov 23.


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

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.

Neuromuscul Disord. 2010 May;20(5):295-301. doi: 10.1016/j.nmd.2010.03.007. Epub 2010 Apr 14.


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

Popplewell LJ, Adkin C, Arechavala-Gomeza V, Aartsma-Rus A, de Winter CL, Wilton SD, Morgan JE, Muntoni F, Graham IR, Dickson G.

Neuromuscul Disord. 2010 Feb;20(2):102-10. doi: 10.1016/j.nmd.2009.10.013. Epub 2010 Jan 15.


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

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.

PLoS One. 2010 Jan 13;5(1):e8647. doi: 10.1371/journal.pone.0008647.


The contribution of human synovial stem cells to skeletal muscle regeneration.

Meng J, Adkin CF, Arechavala-Gomeza V, Boldrin L, Muntoni F, Morgan JE.

Neuromuscul Disord. 2010 Jan;20(1):6-15. doi: 10.1016/j.nmd.2009.11.007.


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

Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F.

Neuropathol Appl Neurobiol. 2010 Jun;36(4):265-74. doi: 10.1111/j.1365-2990.2009.01056.x. Epub 2009 Nov 25. Erratum in: Neuropathol Appl Neurobiol. 2014 Jun;40(4):515.


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.

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.

Lancet Neurol. 2009 Oct;8(10):918-28. doi: 10.1016/S1474-4422(09)70211-X. Epub 2009 Aug 25. Erratum in: Lancet Neurol. 2009 Dec;8(12):1083.


Chapter 14 Familial amyotrophic lateral sclerosis.

Shaw CE, Arechavala-Gomeza V, Al-Chalabi A.

Handb Clin Neurol. 2007;82:279-300. doi: 10.1016/S0072-9752(07)80017-0. No abstract available.


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

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.

Hum Gene Ther. 2007 Sep;18(9):798-810.


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