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Items: 21

1.

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lähdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Díaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Béroud C, Verschuuren JJ, Lochmüller H.

J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280.

2.

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

Straathof CS, Van Heusden D, Ippel PF, Post JG, Voermans NC, De Visser M, Brusse E, Van Den Bergen JC, Van Der Kooi AJ, Verschuuren JJ, Ginjaar HB.

Muscle Nerve. 2016 Jan;53(1):44-8. doi: 10.1002/mus.24691. Epub 2015 Jun 3.

PMID:
25900853
3.

T2 relaxation times are increased in Skeletal muscle of DMD but not BMD patients.

Wokke BH, Van Den Bergen JC, Hooijmans MT, Verschuuren JJ, Niks EH, Kan HE.

Muscle Nerve. 2016 Jan;53(1):38-43. doi: 10.1002/mus.24679. Epub 2015 Nov 26.

PMID:
25847364
4.

Studying the role of dystrophin-associated proteins in influencing Becker muscular dystrophy disease severity.

van den Bergen JC, Wokke BH, Hulsker MA, Verschuuren JJ, Aartsma-Rus AM.

Neuromuscul Disord. 2015 Mar;25(3):231-7. doi: 10.1016/j.nmd.2015.01.002. Epub 2015 Jan 14.

PMID:
25633150
5.

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.

Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barišić N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Díaz-Manera J, Gallardo E, Karaduman AA, Topaloğlu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Béroud C, Lochmüller H.

Hum Mutat. 2015 Apr;36(4):395-402. doi: 10.1002/humu.22758. Epub 2015 Mar 17.

6.

Age-related longitudinal changes in metabolic energy expenditure during walking in boys with Duchenne muscular dystrophy.

Brehm MA, Kempen JC, van der Kooi AJ, de Groot IJ, van den Bergen JC, Verschuuren JJ, Niks EH, Harlaar J.

PLoS One. 2014 Dec 15;9(12):e115200. doi: 10.1371/journal.pone.0115200. eCollection 2014.

7.

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P.

J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4.

8.

Muscle MRS detects elevated PDE/ATP ratios prior to fatty infiltration in Becker muscular dystrophy.

Wokke BH, Hooijmans MT, van den Bergen JC, Webb AG, Verschuuren JJ, Kan HE.

NMR Biomed. 2014 Nov;27(11):1371-7. doi: 10.1002/nbm.3199. Epub 2014 Sep 6.

PMID:
25196814
9.

Reduced cerebral gray matter and altered white matter in boys with Duchenne muscular dystrophy.

Doorenweerd N, Straathof CS, Dumas EM, Spitali P, Ginjaar IB, Wokke BH, Schrans DG, van den Bergen JC, van Zwet EW, Webb A, van Buchem MA, Verschuuren JJ, Hendriksen JG, Niks EH, Kan HE.

Ann Neurol. 2014 Sep;76(3):403-11. doi: 10.1002/ana.24222. Epub 2014 Jul 24.

PMID:
25043804
10.

Temporalis muscle hypertrophy and reduced skull eccentricity in Duchenne muscular dystrophy.

Straathof CS, Doorenweerd N, Wokke BH, Dumas EM, van den Bergen JC, van Buchem MA, Hendriksen JG, Verschuuren JJ, Kan HE.

J Child Neurol. 2014 Oct;29(10):1344-8. doi: 10.1177/0883073813518106. Epub 2014 Mar 19.

PMID:
24646504
11.

Quantitative MRI and strength measurements in the assessment of muscle quality in Duchenne muscular dystrophy.

Wokke BH, van den Bergen JC, Versluis MJ, Niks EH, Milles J, Webb AG, van Zwet EW, Aartsma-Rus A, Verschuuren JJ, Kan HE.

Neuromuscul Disord. 2014 May;24(5):409-16. doi: 10.1016/j.nmd.2014.01.015. Epub 2014 Feb 8.

PMID:
24613733
12.

Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.

van den Bergen JC, Ginjaar HB, van Essen AJ, Pangalila R, de Groot IJ, Wijkstra PJ, Zijnen MP, Cobben NA, Kampelmacher MJ, Wokke BH, de Coo IF, Fock JM, Horemans AM, van Tol M, Vroom E, Rijlaarsdam ME, Straathof CS, Niks EH, Verschuuren JJ.

J Neuromuscul Dis. 2014;1(1):99-109.

PMID:
27858664
13.

Prolonged Ambulation in Duchenne Patients with a Mutation Amenable to Exon 44 Skipping.

van den Bergen JC, Ginjaar HB, Niks EH, Aartsma-Rus A, Verschuuren JJ.

J Neuromuscul Dis. 2014;1(1):91-94.

PMID:
27858662
14.

Reliability of the walking energy cost test and the six-minute walk test in boys with Duchenne muscular dystrophy.

Kempen JC, Harlaar J, van der Kooi AJ, de Groot IJ, van den Bergen JC, Niks EH, Verschuuren JJ, Brehm MA.

Neuromuscul Disord. 2014 Mar;24(3):216-21. doi: 10.1016/j.nmd.2013.11.015. Epub 2013 Dec 7.

PMID:
24365209
15.

Dystrophin levels and clinical severity in Becker muscular dystrophy patients.

van den Bergen JC, Wokke BH, Janson AA, van Duinen SG, Hulsker MA, Ginjaar HB, van Deutekom JC, Aartsma-Rus A, Kan HE, Verschuuren JJ.

J Neurol Neurosurg Psychiatry. 2014 Jul;85(7):747-53. doi: 10.1136/jnnp-2013-306350. Epub 2013 Nov 29.

PMID:
24292997
16.

DMD transcript imbalance determines dystrophin levels.

Spitali P, van den Bergen JC, Verhaart IE, Wokke B, Janson AA, van den Eijnde R, den Dunnen JT, Laros JF, Verschuuren JJ, 't Hoen PA, Aartsma-Rus A.

FASEB J. 2013 Dec;27(12):4909-16. doi: 10.1096/fj.13-232025. Epub 2013 Aug 23.

PMID:
23975932
17.

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.

Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barišić N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloğlu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Béroud C, Lochmüller H.

Hum Mutat. 2013 Nov;34(11):1449-57. doi: 10.1002/humu.22390. Epub 2013 Aug 26.

PMID:
23913485
18.

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy.

van den Bergen JC, Schade van Westrum SM, Dekker L, van der Kooi AJ, de Visser M, Wokke BH, Straathof CS, Hulsker MA, Aartsma-Rus A, Verschuuren JJ, Ginjaar HB.

J Neurol Neurosurg Psychiatry. 2014 Jan;85(1):92-8. doi: 10.1136/jnnp-2012-304729. Epub 2013 May 10.

PMID:
23667215
19.

Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?

Helderman-van den Enden AT, van den Bergen JC, Breuning MH, Verschuuren JJ, Tibben A, Bakker E, Ginjaar HB.

Clin Genet. 2011 Mar;79(3):236-42. doi: 10.1111/j.1399-0004.2010.01579.x. Epub 2010 Nov 11.

PMID:
21070212
20.

[Experimental therapy in Duchenne muscular dystrophy].

van den Bergen JC, Straathof CS, Aartsma-Rus A, Ginjaar IB, Verschuuren JJ.

Ned Tijdschr Geneeskd. 2009 May 2;153(18):870-5. Review. Dutch. No abstract available.

PMID:
19475867
21.

[A girl with hereditary myotonia due to an exceptional sodium channel mutation].

van den Bergen JC, Verbruggen KT, Ginjaar HB, Kerstjens-Frederikse WS.

Ned Tijdschr Geneeskd. 2006 Nov 11;150(45):2501-6. Dutch.

PMID:
17137100

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