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Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.
Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Pelin K, et al. Among authors: muntoni f. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. doi: 10.1073/pnas.96.5.2305. Proc Natl Acad Sci U S A. 1999. PMID: 10051637 Free PMC article.
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy.
Wallgren-Pettersson C, Pelin K, Hilpelä P, Donner K, Porfirio B, Graziano C, Swoboda KJ, Fardeau M, Urtizberea JA, Muntoni F, Sewry C, Dubowitz V, Iannaccone S, Minetti C, Pedemonte M, Seri M, Cusano R, Lammens M, Castagna-Sloane A, Beggs AH, Laing NG, de la Chapelle A. Wallgren-Pettersson C, et al. Among authors: muntoni f. Neuromuscul Disord. 1999 Dec;9(8):564-72. doi: 10.1016/s0960-8966(99)00061-9. Neuromuscul Disord. 1999. PMID: 10619714
X-inactivation patterns in carriers of X-linked myotubular myopathy.
Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Ørstavik KH, Wallgren-Pettersson C. Kristiansen M, et al. Among authors: muntoni f. Neuromuscul Disord. 2003 Aug;13(6):468-71. doi: 10.1016/s0960-8966(03)00067-1. Neuromuscul Disord. 2003. PMID: 12899873
A Large Deletion Affecting TPM3, Causing Severe Nemaline Myopathy.
Kiiski K, Lehtokari VL, Manzur AY, Sewry C, Zaharieva I, Muntoni F, Pelin K, Wallgren-Pettersson C. Kiiski K, et al. Among authors: muntoni f. J Neuromuscul Dis. 2015 Sep 21;2(4):433-438. doi: 10.3233/JND-150107. J Neuromuscul Dis. 2015. PMID: 27858751 Free PMC article.
950 results