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Items: 1 to 50 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.

21.

Longitudinal functional and NMR assessment of upper limbs in Duchenne muscular dystrophy.

Hogrel JY, Wary C, Moraux A, Azzabou N, Decostre V, Ollivier G, Canal A, Lilien C, Ledoux I, Annoussamy M, Reguiba N, Gidaro T, Le Moing AG, Cardas R, Voit T, Carlier PG, Servais L.

Neurology. 2016 Mar 15;86(11):1022-30. doi: 10.1212/WNL.0000000000002464. Epub 2016 Feb 17.

22.

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

Willkomm L, Heredia R, Hoffmann K, Wang H, Voit T, Hoffman EP, Cirak S.

J Hum Genet. 2016 Jun;61(6):571-3. doi: 10.1038/jhg.2016.6. Epub 2016 Feb 18.

PMID:
26888483
23.

Antisense targeting of 3' end elements involved in DUX4 mRNA processing is an efficient therapeutic strategy for facioscapulohumeral dystrophy: a new gene-silencing approach.

Marsollier AC, Ciszewski L, Mariot V, Popplewell L, Voit T, Dickson G, Dumonceaux J.

Hum Mol Genet. 2016 Apr 15;25(8):1468-78. doi: 10.1093/hmg/ddw015. Epub 2016 Jan 19.

PMID:
26787513
24.

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.

25.

CD49d is a disease progression biomarker and a potential target for immunotherapy in Duchenne muscular dystrophy.

Pinto-Mariz F, Rodrigues Carvalho L, Prufer De Queiroz Campos Araujo A, De Mello W, Gonçalves Ribeiro M, Cunha Mdo C, Cabello PH, Riederer I, Negroni E, Desguerre I, Veras M, Yada E, Allenbach Y, Benveniste O, Voit T, Mouly V, Silva-Barbosa SD, Butler-Browne G, Savino W.

Skelet Muscle. 2015 Dec 10;5:45. doi: 10.1186/s13395-015-0066-2. eCollection 2015.

26.

Challenges of clinical trial design for DMD.

Ricotti V, Muntoni F, Voit T.

Neuromuscul Disord. 2015 Dec;25(12):932-5. doi: 10.1016/j.nmd.2015.10.007. Epub 2015 Oct 23. No abstract available.

PMID:
26584589
27.

Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Servais L, Montus M, Guiner CL, Ben Yaou R, Annoussamy M, Moraux A, Hogrel JY, Seferian AM, Zehrouni K, Le Moing AG, Gidaro T, Vanhulle C, Laugel V, Butoianu N, Cuisset JM, Sabouraud P, Cances C, Klein A, Leturcq F, Moullier P, Voit T.

J Neuromuscul Dis. 2015 Sep 2;2(3):269-279.

28.

GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.

Chamova T, Guergueltcheva V, Gospodinova M, Krause S, Cirak S, Kaprelyan A, Angelova L, Mihaylova V, Bichev S, Chandler D, Naydenov E, Grudkova M, Djukmedzhiev P, Voit T, Pogoryelova O, Lochmüller H, Goebel HH, Bahlo M, Kalaydjieva L, Tournev I.

Neuromuscul Disord. 2015 Sep;25(9):713-8. doi: 10.1016/j.nmd.2015.07.004. Epub 2015 Jul 13.

PMID:
26231298
29.

Quantitative NMRI and NMRS identify augmented disease progression after loss of ambulation in forearms of boys with Duchenne muscular dystrophy.

Wary C, Azzabou N, Giraudeau C, Le Louër J, Montus M, Voit T, Servais L, Carlier P.

NMR Biomed. 2015 Sep;28(9):1150-62. doi: 10.1002/nbm.3352. Epub 2015 Jul 27.

PMID:
26215733
30.

Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.

Rouillon J, Poupiot J, Zocevic A, Amor F, Léger T, Garcia C, Camadro JM, Wong B, Pinilla R, Cosette J, Coenen-Stass AM, Mcclorey G, Roberts TC, Wood MJ, Servais L, Udd B, Voit T, Richard I, Svinartchouk F.

Hum Mol Genet. 2015 Sep 1;24(17):4916-32. doi: 10.1093/hmg/ddv214. Epub 2015 Jun 9.

31.

NMR imaging estimates of muscle volume and intramuscular fat infiltration in the thigh: variations with muscle, gender, and age.

Hogrel JY, Barnouin Y, Azzabou N, Butler-Browne G, Voit T, Moraux A, Leroux G, Behin A, McPhee JS, Carlier PG.

Age (Dordr). 2015 Jun;37(3):9798. doi: 10.1007/s11357-015-9798-5. Epub 2015 Jun 4.

32.

Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial.

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

Lancet. 2015 May 2;385(9979):1748-1757. doi: 10.1016/S0140-6736(15)60025-3. Epub 2015 Apr 20.

PMID:
25907158
33.

CellWhere: graphical display of interaction networks organized on subcellular localizations.

Zhu L, Malatras A, Thorley M, Aghoghogbe I, Mer A, Duguez S, Butler-Browne G, Voit T, Duddy W.

Nucleic Acids Res. 2015 Jul 1;43(W1):W571-5. doi: 10.1093/nar/gkv354. Epub 2015 Apr 16.

34.

Upper limb evaluation and one-year follow up of non-ambulant patients with spinal muscular atrophy: an observational multicenter trial.

Seferian AM, Moraux A, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Annoussamy M, Mayer M, Maincent K, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.

PLoS One. 2015 Apr 10;10(4):e0121799. doi: 10.1371/journal.pone.0121799. eCollection 2015.

35.

Evaluation of the serum matrix metalloproteinase-9 as a biomarker for monitoring disease progression in Duchenne muscular dystrophy.

Zocevic A, Rouillon J, Wong B, Servais L, Voit T, Svinartchouk F.

Neuromuscul Disord. 2015 May;25(5):444-6. doi: 10.1016/j.nmd.2015.01.010. Epub 2015 Feb 2. No abstract available.

PMID:
25791581
36.

Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Seferian AM, Moraux A, Annoussamy M, Canal A, Decostre V, Diebate O, Le Moing AG, Gidaro T, Deconinck N, Van Parys F, Vereecke W, Wittevrongel S, Mayer M, Maincent K, Desguerre I, Thémar-Noël C, Cuisset JM, Tiffreau V, Denis S, Jousten V, Quijano-Roy S, Voit T, Hogrel JY, Servais L.

PLoS One. 2015 Feb 2;10(2):e0113999. doi: 10.1371/journal.pone.0113999. eCollection 2015.

37.

Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers.

Goyenvalle A, Griffith G, Babbs A, El Andaloussi S, Ezzat K, Avril A, Dugovic B, Chaussenot R, Ferry A, Voit T, Amthor H, Bühr C, Schürch S, Wood MJ, Davies KE, Vaillend C, Leumann C, Garcia L.

Nat Med. 2015 Mar;21(3):270-5. doi: 10.1038/nm.3765. Epub 2015 Feb 2.

PMID:
25642938
38.

Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa.

Berger A, Lorain S, Joséphine C, Desrosiers M, Peccate C, Voit T, Garcia L, Sahel JA, Bemelmans AP.

Mol Ther. 2015 May;23(5):918-930. doi: 10.1038/mt.2015.11. Epub 2015 Jan 26.

39.

The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.

Mora M, Angelini C, Bignami F, Bodin AM, Crimi M, Di Donato JH, Felice A, Jaeger C, Karcagi V, LeCam Y, Lynn S, Meznaric M, Moggio M, Monaco L, Politano L, de la Paz MP, Saker S, Schneiderat P, Ensini M, Garavaglia B, Gurwitz D, Johnson D, Muntoni F, Puymirat J, Reza M, Voit T, Baldo C, Bricarelli FD, Goldwurm S, Merla G, Pegoraro E, Renieri A, Zatloukal K, Filocamo M, Lochmüller H.

Eur J Hum Genet. 2015 Sep;23(9):1116-23. doi: 10.1038/ejhg.2014.272. Epub 2014 Dec 24.

40.

Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice.

Mearini G, Stimpel D, Geertz B, Weinberger F, Krämer E, Schlossarek S, Mourot-Filiatre J, Stoehr A, Dutsch A, Wijnker PJ, Braren I, Katus HA, Müller OJ, Voit T, Eschenhagen T, Carrier L.

Nat Commun. 2014 Dec 2;5:5515. doi: 10.1038/ncomms6515.

PMID:
25463264
41.

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.

42.

Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy.

Lynn S, Aartsma-Rus A, Bushby K, Furlong P, Goemans N, De Luca A, Mayhew A, McDonald C, Mercuri E, Muntoni F, Pohlschmidt M, Verschuuren J, Voit T, Vroom E, Wells DJ, Straub V.

Neuromuscul Disord. 2015 Jan;25(1):96-105. doi: 10.1016/j.nmd.2014.09.003. Epub 2014 Sep 11. No abstract available.

PMID:
25307856
43.

Predictive markers of clinical outcome in the GRMD dog model of Duchenne muscular dystrophy.

Barthélémy I, Pinto-Mariz F, Yada E, Desquilbet L, Savino W, Silva-Barbosa SD, Faussat AM, Mouly V, Voit T, Blot S, Butler-Browne G.

Dis Model Mech. 2014 Nov;7(11):1253-61. doi: 10.1242/dmm.016014. Epub 2014 Sep 26.

44.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach.

Zimoń M, Battaloğlu E, Parman Y, Erdem S, Baets J, De Vriendt E, Atkinson D, Almeida-Souza L, Deconinck T, Ozes B, Goossens D, Cirak S, Van Damme P, Shboul M, Voit T, Van Maldergem L, Dan B, El-Khateeb MS, Guergueltcheva V, Lopez-Laso E, Goemans N, Masri A, Züchner S, Timmerman V, Topaloğlu H, De Jonghe P, Jordanova A.

Neurogenetics. 2015 Jan;16(1):33-42. doi: 10.1007/s10048-014-0422-0. Epub 2014 Sep 18.

45.

Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study.

Voit T, Topaloglu H, Straub V, Muntoni F, Deconinck N, Campion G, De Kimpe SJ, Eagle M, Guglieri M, Hood S, Liefaard L, Lourbakos A, Morgan A, Nakielny J, Quarcoo N, Ricotti V, Rolfe K, Servais L, Wardell C, Wilson R, Wright P, Kraus JE.

Lancet Neurol. 2014 Oct;13(10):987-96. doi: 10.1016/S1474-4422(14)70195-4. Epub 2014 Sep 7.

PMID:
25209738
46.

Forelimb treatment in a large cohort of dystrophic dogs supports delivery of a recombinant AAV for exon skipping in Duchenne patients.

Le Guiner C, Montus M, Servais L, Cherel Y, Francois V, Thibaud JL, Wary C, Matot B, Larcher T, Guigand L, Dutilleul M, Domenger C, Allais M, Beuvin M, Moraux A, Le Duff J, Devaux M, Jaulin N, Guilbaud M, Latournerie V, Veron P, Boutin S, Leborgne C, Desgue D, Deschamps JY, Moullec S, Fromes Y, Vulin A, Smith RH, Laroudie N, Barnay-Toutain F, Rivière C, Bucher S, Le TH, Delaunay N, Gasmi M, Kotin RM, Bonne G, Adjali O, Masurier C, Hogrel JY, Carlier P, Moullier P, Voit T.

Mol Ther. 2014 Nov;22(11):1923-35. doi: 10.1038/mt.2014.151. Epub 2014 Aug 4.

47.

Serum profiling identifies novel muscle miRNA and cardiomyopathy-related miRNA biomarkers in Golden Retriever muscular dystrophy dogs and Duchenne muscular dystrophy patients.

Jeanson-Leh L, Lameth J, Krimi S, Buisset J, Amor F, Le Guiner C, Barthélémy I, Servais L, Blot S, Voit T, Israeli D.

Am J Pathol. 2014 Nov;184(11):2885-98. doi: 10.1016/j.ajpath.2014.07.021. Epub 2014 Sep 3.

PMID:
25194663
48.

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation.

Bolocan A, Quijano-Roy S, Seferian AM, Baumann C, Allamand V, Richard P, Estournet B, Carlier R, Cavé H, Gartioux C, Blin N, Le Moing AG, Gidaro T, Germain DP, Fardeau M, Voit T, Servais L, Romero NB.

Neuromuscul Disord. 2014 Nov;24(11):993-8. doi: 10.1016/j.nmd.2014.06.437. Epub 2014 Jun 28.

PMID:
25070542
49.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

50.

Proteomics profiling of urine reveals specific titin fragments as biomarkers of Duchenne muscular dystrophy.

Rouillon J, Zocevic A, Leger T, Garcia C, Camadro JM, Udd B, Wong B, Servais L, Voit T, Svinartchouk F.

Neuromuscul Disord. 2014 Jul;24(7):563-73. doi: 10.1016/j.nmd.2014.03.012. Epub 2014 Apr 13.

PMID:
24813925

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