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Results: 1 to 20 of 101

1.

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes.

Pane M, Mazzone ES, Sormani MP, Messina S, Vita GL, Fanelli L, Berardinelli A, Torrente Y, D'Amico A, Lanzillotta V, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Scalise R, De Sanctis R, Rolle E, Bianco F, Van der Haawue M, Magri F, Palermo C, Rossi F, Donati MA, Alfonsi C, Sacchini M, Arnoldi MT, Baranello G, Mongini T, Pini A, Battini R, Pegoraro E, Previtali SC, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Morandi L, Gualandi F, Ferlini A, Goemans N, Mercuri E.

PLoS One. 2014 Jan 8;9(1):e83400. doi: 10.1371/journal.pone.0083400. eCollection 2014.

PMID:
24421885
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study.

Mazzone E, Vasco G, Sormani MP, Torrente Y, Berardinelli A, Messina S, D'Amico A, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Bonfiglio S, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Gasperini S, Previtali S, Napolitano S, Martinelli D, Bruno C, Vita G, Comi G, Bertini E, Mercuri E.

Neurology. 2011 Jul 19;77(3):250-6. doi: 10.1212/WNL.0b013e318225ab2e. Epub 2011 Jul 6.

PMID:
21734183
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
22102647
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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.

PMID:
24217213
[PubMed - indexed for MEDLINE]
5.

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

Aartsma-Rus A, Fokkema I, Verschuuren J, Ginjaar I, van Deutekom J, van Ommen GJ, den Dunnen JT.

Hum Mutat. 2009 Mar;30(3):293-9. doi: 10.1002/humu.20918. Review.

PMID:
19156838
[PubMed - indexed for MEDLINE]
6.

North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy.

Mazzone E, Martinelli D, Berardinelli A, Messina S, D'Amico A, Vasco G, Main M, Doglio L, Politano L, Cavallaro F, Frosini S, Bello L, Carlesi A, Bonetti AM, Zucchini E, De Sanctis R, Scutifero M, Bianco F, Rossi F, Motta MC, Sacco A, Donati MA, Mongini T, Pini A, Battini R, Pegoraro E, Pane M, Pasquini E, Bruno C, Vita G, de Waure C, Bertini E, Mercuri E.

Neuromuscul Disord. 2010 Nov;20(11):712-6. doi: 10.1016/j.nmd.2010.06.014. Epub 2010 Jul 14.

PMID:
20634072
[PubMed - indexed for MEDLINE]
7.

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.

PMID:
20072625
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy.

McDonald CM, Henricson EK, Han JJ, Abresch RT, Nicorici A, Elfring GL, Atkinson L, Reha A, Hirawat S, Miller LL.

Muscle Nerve. 2010 Apr;41(4):500-10. doi: 10.1002/mus.21544.

PMID:
19941337
[PubMed - indexed for MEDLINE]
9.

A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.

Lo IF, Lai KK, Tong TM, Lam ST.

Chin Med J (Engl). 2006 Jul 5;119(13):1079-87.

PMID:
16834926
[PubMed - indexed for MEDLINE]
Free Article
10.

Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis.

Murugan S, Chandramohan A, Lakshmi BR.

Indian J Med Res. 2010 Sep;132:303-11.

PMID:
20847377
[PubMed - indexed for MEDLINE]
Free Article
11.

Antisense-induced exon skipping for duplications in Duchenne muscular dystrophy.

Aartsma-Rus A, Janson AA, van Ommen GJ, van Deutekom JC.

BMC Med Genet. 2007 Jul 5;8:43.

PMID:
17612397
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Ambulatory capacity and disease progression as measured by the 6-minute-walk-distance in Duchenne muscular dystrophy subjects on daily corticosteroids.

Goemans N, van den Hauwe M, Wilson R, van Impe A, Klingels K, Buyse G.

Neuromuscul Disord. 2013 Aug;23(8):618-23. doi: 10.1016/j.nmd.2013.05.006. Epub 2013 Jun 13.

PMID:
23770101
[PubMed - indexed for MEDLINE]
13.

Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.

Helderman-van den Enden AT, Straathof CS, Aartsma-Rus A, den Dunnen JT, Verbist BM, Bakker E, Verschuuren JJ, Ginjaar HB.

Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13.

PMID:
20153965
[PubMed - indexed for MEDLINE]
14.

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy.

Mazzone ES, Pane M, Sormani MP, Scalise R, Berardinelli A, Messina S, Torrente Y, D'Amico A, Doglio L, Viggiano E, D'Ambrosio P, Cavallaro F, Frosini S, Bello L, Bonfiglio S, De Sanctis R, Rolle E, Bianco F, Magri F, Rossi F, Vasco G, Vita G, Motta MC, Donati MA, Sacchini M, Mongini T, Pini A, Battini R, Pegoraro E, Previtali S, Napolitano S, Bruno C, Politano L, Comi GP, Bertini E, Mercuri E.

PLoS One. 2013;8(1):e52512. doi: 10.1371/journal.pone.0052512. Epub 2013 Jan 11. Erratum in: PLoS One. 2013;8(11). doi:10.1371/annotation/cbe611fe-cda9-4d98-9574-0ac18e109daa.

PMID:
23326337
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy.

Aartsma-Rus A, Bremmer-Bout M, Janson AA, den Dunnen JT, van Ommen GJ, van Deutekom JC.

Neuromuscul Disord. 2002 Oct;12 Suppl 1:S71-7.

PMID:
12206800
[PubMed - indexed for MEDLINE]
16.

The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study.

McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM; PTC124-GD-007-DMD Study Group, Spiegel R, Barth J, Elfring G, Reha A, Peltz S.

Muscle Nerve. 2013 Sep;48(3):343-56. doi: 10.1002/mus.23902. Epub 2013 Jun 26.

PMID:
23681930
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients.

Tran VK, Ta VT, Vu DC, Nguyen ST, Do HN, Ta MH, Tran TH, Matsuo M.

J Neurogenet. 2013 Dec;27(4):170-5. doi: 10.3109/01677063.2013.830616. Epub 2013 Oct 7.

PMID:
24099565
[PubMed - indexed for MEDLINE]
19.

Early neurodevelopmental assessment in Duchenne muscular dystrophy.

Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E.

Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25.

PMID:
23535446
[PubMed - indexed for MEDLINE]
20.

Screening of dystrophin gene deletions in Malaysian patients with Duchenne muscular dystrophy.

Marini M, Salmi AA, Watihayati MS, SMardziah MD, Zahri MK, Hoh BP, Ankathil R, Lai PS, Zilfalil BA.

Med J Malaysia. 2008 Mar;63(1):31-4.

PMID:
18935728
[PubMed - indexed for MEDLINE]
Free Article

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