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Items: 1 to 20 of 282

1.

Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study.

Ricotti V, Selby V, Ridout D, Domingos J, Decostre V, Mayhew A, Eagle M, Butler J, Guglieri M, Van der Holst M, Jansen M, Verschuuren JJGM, de Groot IJM, Niks EH, Servais L, Straub V, Voit T, Hogrel JY, Muntoni F.

Neuromuscul Disord. 2019 Apr;29(4):261-268. doi: 10.1016/j.nmd.2019.02.002. Epub 2019 Feb 19.

PMID:
30852071
2.

Home-Based Monitoring of Pulmonary Function in Patients with Duchenne Muscular Dystroph.

Buyse GM, Rummey C, Meier T, Leinonen M, Voit T, McDonald CM, Mayer OH.

J Neuromuscul Dis. 2018;5(4):419-430. doi: 10.3233/JND-180338.

3.

High urinary ferritin reflects myoglobin iron evacuation in DMD patients.

Rouillon J, Lefebvre T, Denard J, Puy V, Daher R, Ausseil J, Zocevic A, Fogel P, Peoc'h K, Wong B, Servais L, Voit T, Puy H, Karim Z, Svinartchouk F.

Neuromuscul Disord. 2018 Jul;28(7):564-571. doi: 10.1016/j.nmd.2018.03.008. Epub 2018 Mar 20.

4.

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Catapano F, Domingos J, Perry M, Ricotti V, Phillips L, Servais L, Seferian A, Groot I, Krom YD, Niks EH, Verschuuren JJ, Straub V, Voit T, Morgan J, Muntoni F.

Epigenomics. 2018 Jul;10(7):875-889. doi: 10.2217/epi-2018-0022. Epub 2018 Mar 22.

PMID:
29564913
5.

RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect.

Domenger C, Allais M, François V, Léger A, Lecomte E, Montus M, Servais L, Voit T, Moullier P, Audic Y, Le Guiner C.

Mol Ther Nucleic Acids. 2018 Mar 2;10:277-291. doi: 10.1016/j.omtn.2017.12.008. Epub 2017 Dec 21.

6.

Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches.

Mariot V, Joubert R, Hourdé C, Féasson L, Hanna M, Muntoni F, Maisonobe T, Servais L, Bogni C, Le Panse R, Benvensite O, Stojkovic T, Machado PM, Voit T, Buj-Bello A, Dumonceaux J.

Nat Commun. 2017 Nov 30;8(1):1859. doi: 10.1038/s41467-017-01486-4.

7.

Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy.

Le Guiner C, Servais L, Montus M, Larcher T, Fraysse B, Moullec S, Allais M, François V, Dutilleul M, Malerba A, Koo T, Thibaut JL, Matot B, Devaux M, Le Duff J, Deschamps JY, Barthelemy I, Blot S, Testault I, Wahbi K, Ederhy S, Martin S, Veron P, Georger C, Athanasopoulos T, Masurier C, Mingozzi F, Carlier P, Gjata B, Hogrel JY, Adjali O, Mavilio F, Voit T, Moullier P, Dickson G.

Nat Commun. 2017 Jul 25;8:16105. doi: 10.1038/ncomms16105.

8.

Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.

McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E; Clinical Evaluator Training Group; ACT DMD Study Group.

Lancet. 2017 Sep 23;390(10101):1489-1498. doi: 10.1016/S0140-6736(17)31611-2. Epub 2017 Jul 17.

PMID:
28728956
9.

A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model.

Biferi MG, Cohen-Tannoudji M, Cappelletto A, Giroux B, Roda M, Astord S, Marais T, Bos C, Voit T, Ferry A, Barkats M.

Mol Ther. 2017 Sep 6;25(9):2038-2052. doi: 10.1016/j.ymthe.2017.05.017. Epub 2017 Jun 26.

10.

Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.

Schwartz C, Fischer M, Mamchaoui K, Bigot A, Lok T, Verdier C, Duperray A, Michel R, Holt I, Voit T, Quijano-Roy S, Bonne G, Coirault C.

Sci Rep. 2017 Apr 28;7(1):1253. doi: 10.1038/s41598-017-01324-z.

11.

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.

Osborn DPS, Pond HL, Mazaheri N, Dejardin J, Munn CJ, Mushref K, Cauley ES, Moroni I, Pasanisi MB, Sellars EA, Hill RS, Partlow JN, Willaert RK, Bharj J, Malamiri RA, Galehdari H, Shariati G, Maroofian R, Mora M, Swan LE, Voit T, Conti FJ, Jamshidi Y, Manzini MC.

Am J Hum Genet. 2017 Mar 2;100(3):537-545. doi: 10.1016/j.ajhg.2017.01.019. Epub 2017 Feb 9.

12.

Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines.

Thorley M, Duguez S, Mazza EMC, Valsoni S, Bigot A, Mamchaoui K, Harmon B, Voit T, Mouly V, Duddy W.

Skelet Muscle. 2016 Dec 8;6(1):43. doi: 10.1186/s13395-016-0115-5.

13.

Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy.

Armbruster N, Lattanzi A, Jeavons M, Van Wittenberghe L, Gjata B, Marais T, Martin S, Vignaud A, Voit T, Mavilio F, Barkats M, Buj-Bello A.

Mol Ther Methods Clin Dev. 2016 Sep 14;3:16060. doi: 10.1038/mtm.2016.60. eCollection 2016.

14.

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.

Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A.

Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Review.

PMID:
27633507
15.

Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.

Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Mayer OH, Spagnolo P, Meier T, McDonald CM; DELOS Study Group.

Pediatr Pulmonol. 2017 Apr;52(4):508-515. doi: 10.1002/ppul.23547. Epub 2016 Aug 29.

16.

Antisense pre-treatment increases gene therapy efficacy in dystrophic muscles.

Peccate C, Mollard A, Le Hir M, Julien L, McClorey G, Jarmin S, Le Heron A, Dickson G, Benkhelifa-Ziyyat S, Piétri-Rouxel F, Wood MJ, Voit T, Lorain S.

Hum Mol Genet. 2016 Aug 15;25(16):3555-3563. doi: 10.1093/hmg/ddw201. Epub 2016 Jul 4.

PMID:
27378686
17.

Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy.

Gentil C, Le Guiner C, Falcone S, Hogrel JY, Peccate C, Lorain S, Benkhelifa-Ziyyat S, Guigand L, Montus M, Servais L, Voit T, Piétri-Rouxel F.

Hum Gene Ther. 2016 Sep;27(9):712-26. doi: 10.1089/hum.2016.041. Epub 2016 Jun 8.

PMID:
27279388
18.

A Movement Monitor Based on Magneto-Inertial Sensors for Non-Ambulant Patients with Duchenne Muscular Dystrophy: A Pilot Study in Controlled Environment.

Le Moing AG, Seferian AM, Moraux A, Annoussamy M, Dorveaux E, Gasnier E, Hogrel JY, Voit T, Vissière D, Servais L.

PLoS One. 2016 Jun 7;11(6):e0156696. doi: 10.1371/journal.pone.0156696. eCollection 2016.

19.

Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy.

McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM; DELOS Study Group.

Neuromuscul Disord. 2016 Aug;26(8):473-80. doi: 10.1016/j.nmd.2016.05.008. Epub 2016 May 12.

20.

Childhood Pompe disease: clinical spectrum and genotype in 31 patients.

van Capelle CI, van der Meijden JC, van den Hout JM, Jaeken J, Baethmann M, Voit T, Kroos MA, Derks TG, Rubio-Gozalbo ME, Willemsen MA, Lachmann RH, Mengel E, Michelakakis H, de Jongste JC, Reuser AJ, van der Ploeg AT.

Orphanet J Rare Dis. 2016 May 18;11(1):65. doi: 10.1186/s13023-016-0442-y.

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