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Items: 1 to 20 of 138

1.

Placebo-controlled Phase 2 Trial of Drisapersen for Duchenne Muscular Dystrophy.

McDonald CM, Wong B, Flanigan KM, Wilson R, de Kimpe S, Lourbakos A, Lin Z, Campion G; DEMAND V study group.

Ann Clin Transl Neurol. 2018 Jul 11;5(8):913-926. doi: 10.1002/acn3.579. eCollection 2018 Aug.

2.

An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK.GALGT2 to Leg Skeletal Muscles in the Rhesus Macaque.

Xu R, Jia Y, Zygmunt DA, Cramer ML, Crowe KE, Shao G, Maki AE, Guggenheim HN, Hood BC, Griffin DA, Peterson E, Bolon B, Cheatham JP, Cheatham SL, Flanigan KM, Rodino-Klapac LR, Chicoine LG, Martin PT.

Mol Ther Methods Clin Dev. 2018 Jul 14;10:89-104. doi: 10.1016/j.omtm.2018.06.002. eCollection 2018 Sep 21.

3.

In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.

Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct.

4.

Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy.

Weiss RB, Vieland VJ, Dunn DM, Kaminoh Y, Flanigan KM; United Dystrophinopathy Project.

Ann Neurol. 2018 Aug;84(2):234-245. doi: 10.1002/ana.25283. Epub 2018 Aug 25.

PMID:
30014611
5.

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.

Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M.

Trials. 2018 May 10;19(1):291. doi: 10.1186/s13063-018-2645-0. Review.

6.

Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.

Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM.

Mol Genet Metab. 2018 Jun;124(2):131-134. doi: 10.1016/j.ymgme.2018.04.010. Epub 2018 Apr 27.

PMID:
29735373
7.

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype.

Waldrop MA, Gumienny F, Boue D, de Los Reyes E, Shell R, Weiss RB, Flanigan KM.

Am J Med Genet A. 2018 May;176(5):1207-1211. doi: 10.1002/ajmg.a.38676.

PMID:
29681093
8.

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.

Waldrop MA, Gumienny F, El Husayni S, Frank DE, Weiss RB, Flanigan KM.

Neuromuscul Disord. 2018 Feb;28(2):116-121. doi: 10.1016/j.nmd.2017.11.007. Epub 2017 Nov 23.

PMID:
29305136
9.

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis.

Yalvac ME, Amornvit J, Braganza C, Chen L, Hussain SA, Shontz KM, Montgomery CL, Flanigan KM, Lewis S, Sahenk Z.

Skelet Muscle. 2017 Dec 14;7(1):27. doi: 10.1186/s13395-017-0146-6.

10.

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.

11.

Differential Prevalence of Antibodies Against Adeno-Associated Virus in Healthy Children and Patients with Mucopolysaccharidosis III: Perspective for AAV-Mediated Gene Therapy.

Fu H, Meadows AS, Pineda RJ, Kunkler KL, Truxal KV, McBride KL, Flanigan KM, McCarty DM.

Hum Gene Ther Clin Dev. 2017 Dec;28(4):187-196. doi: 10.1089/humc.2017.109. Epub 2017 Oct 24.

PMID:
29064732
12.

Efficient Skipping of Single Exon Duplications in DMD Patient-Derived Cell Lines Using an Antisense Oligonucleotide Approach.

Wein N, Vulin A, Findlay AR, Gumienny F, Huang N, Wilton SD, Flanigan KM.

J Neuromuscul Dis. 2017;4(3):199-207. doi: 10.3233/JND-170233.

PMID:
28869484
13.

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
14.

Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.

Waldrop MA, Boue DR, Sites E, Flanigan KM, Shell R.

Pediatr Neurol. 2017 Sep;74:11-14. doi: 10.1016/j.pediatrneurol.2017.01.026. Epub 2017 Feb 4. No abstract available.

15.

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy.

Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC.

Contemp Clin Trials. 2017 Jul;58:34-39. doi: 10.1016/j.cct.2017.04.008. Epub 2017 Apr 24.

PMID:
28450193
16.

Follistatin Gene Therapy for Sporadic Inclusion Body Myositis Improves Functional Outcomes.

Mendell JR, Sahenk Z, Al-Zaidy S, Rodino-Klapac LR, Lowes LP, Alfano LN, Berry K, Miller N, Yalvac M, Dvorchik I, Moore-Clingenpeel M, Flanigan KM, Church K, Shontz K, Curry C, Lewis S, McColly M, Hogan MJ, Kaspar BK.

Mol Ther. 2017 Apr 5;25(4):870-879. doi: 10.1016/j.ymthe.2017.02.015. Epub 2017 Mar 6.

17.

The 100-meter timed test: Normative data in healthy males and comparative pilot outcome data for use in Duchenne muscular dystrophy clinical trials.

Alfano LN, Miller NF, Berry KM, Yin H, Rolf KE, Flanigan KM, Mendell JR, Lowes LP.

Neuromuscul Disord. 2017 May;27(5):452-457. doi: 10.1016/j.nmd.2017.02.007. Epub 2017 Feb 17.

PMID:
28279570
18.

General anesthesia with a native airway for patients with mucopolysaccharidosis type III.

Kamata M, McKee C, Truxal KV, Flanigan KM, McBride KL, Aylward SC, Tobias JD, Corridore M.

Paediatr Anaesth. 2017 Apr;27(4):370-376. doi: 10.1111/pan.13108. Epub 2017 Feb 8.

PMID:
28181359
19.

Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy.

Zygmunt DA, Crowe KE, Flanigan KM, Martin PT.

Hum Gene Ther. 2017 Sep;28(9):737-746. doi: 10.1089/hum.2016.141. Epub 2016 Dec 29.

20.

N-terminal α Dystroglycan (αDG-N): A Potential Serum Biomarker for Duchenne Muscular Dystrophy.

Crowe KE, Shao G, Flanigan KM, Martin PT.

J Neuromuscul Dis. 2016 May 27;3(2):247-260.

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