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Persistence of exon 2 skipping and dystrophin expression at 18 months after U7snRNA-mediated therapy in the Dup2 mouse model.
Gushchina LV, Bradley AJ, Vetter TA, Lay JW, Rohan NL, Frair EC, Wein N, Flanigan KM. Gushchina LV, et al. Among authors: flanigan km. Mol Ther Methods Clin Dev. 2023 Oct 26;31:101144. doi: 10.1016/j.omtm.2023.101144. eCollection 2023 Dec 14. Mol Ther Methods Clin Dev. 2023. PMID: 38027058 Free PMC article.
We have previously confirmed the therapeutic efficacy of AAV9.U7snRNA-mediated skipping in the Dup2 mouse model and showed the absence of off-target splicing effects and lack of toxicity in mice and nonhuman primates. Here, we report long-term dystrophin expression data fo …
We have previously confirmed the therapeutic efficacy of AAV9.U7snRNA-mediated skipping in the Dup2 mouse model and showed the absence of of …
Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.
Wilhelm CM, Truxal KV, McBride KL, Kovalchin JP, Flanigan KM. Wilhelm CM, et al. Among authors: flanigan km. Mol Genet Metab. 2018 Jun;124(2):131-134. doi: 10.1016/j.ymgme.2018.04.010. Epub 2018 Apr 27. Mol Genet Metab. 2018. PMID: 29735373 Free PMC article.
CONCLUSIONS: Individuals with Sanfilippo A and B demonstrate a natural history of cardiac involvement with valvular abnormalities most common. In short-term follow up, patients demonstrated only mild progression of abnormalities, none requiring intervention. ...
CONCLUSIONS: Individuals with Sanfilippo A and B demonstrate a natural history of cardiac involvement with valvular abnormalities most commo …
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. Koeks Z, et al. Among authors: flanigan km. J Neuromuscul Dis. 2017;4(4):293-306. doi: 10.3233/JND-170280. J Neuromuscul Dis. 2017. PMID: 29125504 Free PMC article.
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability in terms of progression than expected. ...
BACKGROUND: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease varia …
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H. Byrne S, et al. Among authors: flanigan km. Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393. Brain. 2016. PMID: 26917586 Free PMC article.
Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the recurrent p.Gln336Arg mutation. Acquired microcephaly and regression of skills in long-term survivors suggests a neurodegenerative comp …
Survival outcomes were significantly better in patients with compound heterozygous mutations (P = 0.046), as well as in patients with the re …
The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K; TACT. Heslop E, et al. Among authors: flanigan km. Orphanet J Rare Dis. 2015 Apr 23;10:49. doi: 10.1186/s13023-015-0258-1. Orphanet J Rare Dis. 2015. PMID: 25902795 Free PMC article. Review.
The reviews and subsequent recommendations are focused on generating meaningful and rigorous data that can enable clear go/no-go decisions and facilitate longer term funding or partnering opportunities. The review process thereby acts to comment on viability, de-risking th …
The reviews and subsequent recommendations are focused on generating meaningful and rigorous data that can enable clear go/no-go decisions a …
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.
Finkel RS, Flanigan KM, Wong B, Bönnemann C, Sampson J, Sweeney HL, Reha A, Northcutt VJ, Elfring G, Barth J, Peltz SW. Finkel RS, et al. Among authors: flanigan km. PLoS One. 2013 Dec 11;8(12):e81302. doi: 10.1371/journal.pone.0081302. eCollection 2013. PLoS One. 2013. PMID: 24349052 Free PMC article. Clinical Trial.
INTERPRETATION: Ataluren showed activity and safety in this short-term study, supporting evaluation of ataluren 10, 10, 20 mg/kg and 20, 20, 40 mg/kg in a Phase 2b, double-blind, long-term study in nonsense mutation DMD. ...
INTERPRETATION: Ataluren showed activity and safety in this short-term study, supporting evaluation of ataluren 10, 10, 20 mg/kg and …
Diabetic myonecrosis in a cystic fibrosis patient.
Kopp BT, Kirkby S, Hayes D Jr, Flanigan KM. Kopp BT, et al. Among authors: flanigan km. Respir Care. 2013 Oct;58(10):e123-5. doi: 10.4187/respcare.02299. Epub 2013 Jan 29. Respir Care. 2013. PMID: 23362169 Free article.
To our knowledge, this is the first reported case of diabetic myonecrosis in a patient with CF, and highlights the need for pulmonary physicians to recognize this diabetic complication in CF patients, which is associated with a poor long-term prognosis and existing microva …
To our knowledge, this is the first reported case of diabetic myonecrosis in a patient with CF, and highlights the need for pulmonary physic …
Sustained alpha-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D.
Mendell JR, Rodino-Klapac LR, Rosales XQ, Coley BD, Galloway G, Lewis S, Malik V, Shilling C, Byrne BJ, Conlon T, Campbell KJ, Bremer WG, Taylor LE, Flanigan KM, Gastier-Foster JM, Astbury C, Kota J, Sahenk Z, Walker CM, Clark KR. Mendell JR, et al. Among authors: flanigan km. Ann Neurol. 2010 Nov;68(5):629-38. doi: 10.1002/ana.22251. Ann Neurol. 2010. PMID: 21031578 Free PMC article. Clinical Trial.
INTERPRETATION: The findings of this gene replacement study in LGMD2D subjects have important implications not previously demonstrated in muscular dystrophy. Long-term, sustainable gene expression of alpha-sarcoglycan was observed following gene transfer mediated by AAV. . …
INTERPRETATION: The findings of this gene replacement study in LGMD2D subjects have important implications not previously demonstrated in mu …
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy.
Malik V, Rodino-Klapac LR, Viollet L, Wall C, King W, Al-Dahhak R, Lewis S, Shilling CJ, Kota J, Serrano-Munuera C, Hayes J, Mahan JD, Campbell KJ, Banwell B, Dasouki M, Watts V, Sivakumar K, Bien-Willner R, Flanigan KM, Sahenk Z, Barohn RJ, Walker CM, Mendell JR. Malik V, et al. Among authors: flanigan km. Ann Neurol. 2010 Jun;67(6):771-80. doi: 10.1002/ana.22024. Ann Neurol. 2010. PMID: 20517938 Clinical Trial.
OBJECTIVE: The objective of this study was to establish the feasibility of long-term gentamicin dosing to achieve stop codon readthrough and produce full-length dystrophin. ...
OBJECTIVE: The objective of this study was to establish the feasibility of long-term gentamicin dosing to achieve stop codon readthro …
Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.
Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M. Flanigan KM, et al. Ann Neurol. 2000 Feb;47(2):152-61. Ann Neurol. 2000. PMID: 10665485
Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. ...
Rigid spine syndrome is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal con …
11 results