Quantification of dystrophin immunofluorescence in dystrophinopathy muscle specimens von Taylor, L. E., Kaminoh, Y. J., Rodesch, C. K., Flanigan, K. M.

Volltext

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy von Lampe, A K, Dunn, D M, von Niederhausern, A C, Hamil, C, Aoyagi, A, Laval, S H, Marie, S K, Chu, M-L, Swoboda, K, Muntoni, F, Bonnemann, C G, Flanigan, K M, Bushby, K M D, Weiss, R B

Volltext

Neurology Academic Advisory Committee: A strategy for faculty retention and advancement von SCHENKENBERG, T, FOSTER, N. L, BROMBERG, M. B, DEWITT, L. D, FLANIGAN, K. M

Volltext

Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24 von PLASTER, N. M, UYAMA, E, UCHINO, M, IKEDA, T, FLANIGAN, K. M, KONDO, I, PTACEK, L. J

Volltext

A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design von Truxal, K.V., Fu, H., McCarty, D.M., McNally, K.A., Kunkler, K.L., Zumberge, N.A., Martin, L., Aylward, S.C., Alfano, L.N., Berry, K.M., Lowes, L.P., Corridore, M., McKee, C., McBride, K.L., Flanigan, K.M.

Volltext

Late-onset hereditary axonal neuropathies von BENNETT, C. L, LAWSON, V. H, BIRD, T. D, BRICKELL, K. L, ISAACS, K, SELTZER, W, LIPE, H. P, WEISS, M. D, CARTER, G. T, FLANIGAN, K. M, CHANCE, P. F

Volltext

Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy von Campbell, Craig, Barohn, Richard J, Bertini, Enrico, Chabrol, Brigitte, Comi, Giacomo Pietro, Darras, Basil T, Finkel, Richard S, Flanigan, Kevin M, Goemans, Nathalie, Iannaccone, Susan T, Jones, Kristi J, Kirschner, Janbernd, Mah, Jean K, Mathews, Katherine D, McDonald, Craig M, Mercuri, Eugenio, Nevo, Yoram, Péréon, Yann, Renfroe, J Ben, Ryan, Monique M, Sampson, Jacinda B, Schara, Ulrike, Sejersen, Thomas, Selby, Kathryn, Tulinius, Már, Vílchez, Juan J, Voit, Thomas, Wei, Lee-Jen, Wong, Brenda L, Elfring, Gary, Souza, Marcio, McIntosh, Joseph, Trifillis, Panayiota, Peltz, Stuart W, Muntoni, Francesco

Volltext

The 2-min walk test is sufficient for evaluating walking abilities in sporadic inclusion body myositis von Alfano, L.N, Lowes, L.P, Dvorchik, I, Yin, H, Maus, E.G, Flanigan, K.M, Mendell, J.R

Volltext

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance von Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G

Volltext

Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological, and genetic study von Flanigan, Kevin M., Kerr, Lynne, Bromberg, Mark B., Leonard, Claire, Tsuruda, Jay, Zhang, Ping, Gonzalez-Gomez, Ignacio, Cohn, Ronald, Campbell, Kevin P., Leppert, Mark

Volltext

Duplications in the DMD gene von White, S.J., Aartsma-Rus, A., Flanigan, K.M., Weiss, R.B., Kneppers, A.L.J., Lalic, T., Janson, A.A.M., Ginjaar, H.B., Breuning, M.H., den Dunnen, J.T.

Volltext

Rapid Direct Sequence Analysis of the Dystrophin Gene von Flanigan, Kevin M., Niederhausern, Andrew von, Dunn, Diane M., Alder, Jonathan, Mendell, Jerry R., Weiss, Robert B.

Volltext

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations von Jimenez-Mallebrera, C., Maioli, M.A., Kim, J., Brown, S.C., Feng, L., Lampe, A.K., Bushby, K., Hicks, D., Flanigan, K.M., Bonnemann, C., Sewry, C.A., Muntoni, F.

Volltext

Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation von Winokur, Sara T., Chen, Yi-Wen, Masny, Peter S., Martin, Jorge H., Ehmsen, Jeffrey T., Tapscott, Stephen J., van der Maarel, Silvere M., Hayashi, Yukiko, Flanigan, Kevin M.

Volltext

Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons von Howard, Michael T, Aggarwal, Gaurav, Anderson, Christine B, Khatri, Shikha, Flanigan, Kevin M, Atkins, John F

Volltext

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort von Dent, K.M., Dunn, D.M., von Niederhausern, A.C., Aoyagi, A.T., Kerr, L., Bromberg, M.B., Hart, K.J., Tuohy, T., White, S., den Dunnen, J.T., Weiss, R.B., Flanigan, K.M.

Volltext

Sequence specificity of aminoglycoside-induced stop codon readthrough: Potential implications for treatment of Duchenne muscular dystrophy von Howard, Michael T., Shirts, Brian H., Petros, Lorin M., Flanigan, Kevin M., Gesteland, Raymond F., Atkins, John F.

Volltext

Paraneoplastic myopathy: response to intravenous immunoglobulin von Sampson, J.B, Smith, S.M, Smith, A.G, Singleton, J.R, Chin, S, Pestronk, A, Flanigan, K.M

Volltext

Localization of the giant axonal neuropathy gene to chromosome 16q24 von Flanigan, Kevin M., Crawford, Thomas O., Griffin, John W., Goebel, Hans H., Kohlschütter, Alfried, Ranells, Judith, Camfield, Peter R., Ptáček, Louis J.

Volltext

Calciphylaxis mimicking dermatomyositis : Ischemic myopathy complicating renal failure von FLANIGAN, K. M, BROMBERG, M. B, GREGORY, M, BARINGER, J. R, JONES, C. R, NESTER, T. A, KLATT, E. C, TOWNSEND, J. J

Volltext