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191 results

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Page 1
An unusual pathologic feature associated with dermatomyositis.
Sampson JB, Chin SS, Clayton FC, Pestronk A, Swoboda KJ, Flanigan KM. Sampson JB, et al. Among authors: flanigan km. Neuromuscul Disord. 2006 Jun;16(6):391-3. doi: 10.1016/j.nmd.2006.03.013. Epub 2006 May 11. Neuromuscul Disord. 2006. PMID: 16697198
Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy.
Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG. Schessl J, et al. Among authors: flanigan km. J Clin Invest. 2008 Mar;118(3):904-12. doi: 10.1172/JCI34450. J Clin Invest. 2008. PMID: 18274675 Free PMC article.
A phase I/IItrial of MYO-029 in adult subjects with muscular dystrophy.
Wagner KR, Fleckenstein JL, Amato AA, Barohn RJ, Bushby K, Escolar DM, Flanigan KM, Pestronk A, Tawil R, Wolfe GI, Eagle M, Florence JM, King WM, Pandya S, Straub V, Juneau P, Meyers K, Csimma C, Araujo T, Allen R, Parsons SA, Wozney JM, Lavallie ER, Mendell JR. Wagner KR, et al. Among authors: flanigan km. Ann Neurol. 2008 May;63(5):561-71. doi: 10.1002/ana.21338. Ann Neurol. 2008. PMID: 18335515 Clinical Trial.
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Bornstein B, et al. Among authors: flanigan km. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504129 Free PMC article.
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.
Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K; TREAT-NMD Neuromuscular Network. Mercuri E, et al. Neuromuscul Disord. 2008 Nov;18(11):894-903. doi: 10.1016/j.nmd.2008.07.003. Epub 2008 Sep 24. Neuromuscul Disord. 2008. PMID: 18818076 No abstract available.
Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1.
Schessl J, Taratuto AL, Sewry C, Battini R, Chin SS, Maiti B, Dubrovsky AL, Erro MG, Espada G, Robertella M, Saccoliti M, Olmos P, Bridges LR, Standring P, Hu Y, Zou Y, Swoboda KJ, Scavina M, Goebel HH, Mitchell CA, Flanigan KM, Muntoni F, Bönnemann CG. Schessl J, et al. Among authors: flanigan km. Brain. 2009 Feb;132(Pt 2):452-64. doi: 10.1093/brain/awn325. Epub 2009 Jan 29. Brain. 2009. PMID: 19181672 Free PMC article.
A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22.
Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, Flanigan KM. Butterfield RJ, et al. Among authors: flanigan km. Neuromuscul Disord. 2009 Apr;19(4):279-87. doi: 10.1016/j.nmd.2009.02.006. Epub 2009 Mar 21. Neuromuscul Disord. 2009. PMID: 19318250
DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy.
Flanigan KM, Dunn DM, von Niederhausern A, Howard MT, Mendell J, Connolly A, Saunders C, Modrcin A, Dasouki M, Comi GP, Del Bo R, Pickart A, Jacobson R, Finkel R, Medne L, Weiss RB. Flanigan KM, et al. Neuromuscul Disord. 2009 Nov;19(11):743-8. doi: 10.1016/j.nmd.2009.08.010. Epub 2009 Sep 29. Neuromuscul Disord. 2009. PMID: 19793655 Free PMC article.
191 results