Improved diagnosis of Duchenne/Becker muscular dystrophy.

بواسطة Beggs, A H, Kunkel, L M
منشور في 1990

Chromatin loop structure of the human X chromosome: relevance to X inactivation and CpG clusters.

بواسطة Beggs, A H, Migeon, B R
منشور في 1989

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

بواسطة Tahvanainen, E, Beggs, A H, Wallgren-Pettersson, C
منشور في 1994

Extinction of JC virus tumor-antigen expression in glial cell--fibroblast hybrids.

بواسطة Beggs, A H, Frisque, R J, Scangos, G A
منشور في 1988

Dystrophin is transcribed in brain from a distant upstream promoter.

بواسطة Boyce, F M, Beggs, A H, Feener, C, Kunkel, L M
منشور في 1991

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

بواسطة Engle, E C, Castro, A E, Macy, M E, Knoll, J H, Beggs, A H
منشور في 1997

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

بواسطة Beggs, A H, Neumann, P E, Arahata, K, Arikawa, E, Nonaka, I, Anderson, M S, Kunkel, L M
منشور في 1992

Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.

بواسطة Wang, S M, Zwaan, J, Mullaney, P B, Jabak, M H, Al-Awad, A, Beggs, A H, Engle, E C
منشور في 1998

Clinical Phenotype of X‐Linked Myotubular Myopathy in Labrador Retriever Puppies

بواسطة Snead, E.C.R., Taylor, S.M., van der Kooij, M., Cosford, K., Beggs, A.H., Shelton, G.D.
الحاوية / القاعدة J Vet Intern Med (2015)

Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.

بواسطة Beggs, A H, Hoffman, E P, Snyder, J R, Arahata, K, Specht, L, Shapiro, F, Angelini, C, Sugita, H, Kunkel, L M
منشور في 1991

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome...

بواسطة Engle, E C, Marondel, I, Houtman, W A, de Vries, B, Loewenstein, A, Lazar, M, Ward, D C, Kucherlapati, R, Beggs, A H
منشور في 1995

Large duplication in MTM1 associated with myotubular myopathy

بواسطة Amburgey, K., Lawlor, M.W., del Gaudio, D., Cheng, Y.W., Fitzpatrick, C., Minor, A., Li, X., Aughton, D., Das, S., Beggs, A.H., Dowling, J.J.
منشور في 2012

Dystrophin analysis in idiopathic dilated cardiomyopathy.

بواسطة Michels, V V, Pastores, G M, Moll, P P, Driscoll, D J, Miller, F A, Burnett, J C, Rodeheffer, R J, Tajik, J A, Beggs, A H, Kunkel, L M
منشور في 1993

Congenital myopathy caused by a novel missense mutation in the CFL2 gene

بواسطة Ockeloen, C.W., Gilhuis, H.J., Pfundt, R., Kamsteeg, E.J., Agrawal, P.B., Beggs, A.H., Hama-Amin, A. Dara, Diekstra, A., Knoers, N.V.A.M., Lammens, M., van Alfen, N.
منشور في 2012

Functional muscle analysis of the Tcap knockout mouse

بواسطة Markert, C.D., Meaney, M.P., Voelker, K.A., Grange, R.W., Dalley, H.W., Cann, J.K., Ahmed, M., Bishwokarma, B., Walker, S.J., Yu, S.X., Brown, M., Lawlor, M.W., Beggs, A.H., Childers, M.K.
منشور في 2010

Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1

بواسطة Laing, N. G., Majda, B. T., Akkari, P. A., Layton, M. G., Mulley, J. C., Phillips, H., Haan, E. A., White, S. J., Beggs, A. H., Kunkel, L. M., Groth, D. M., Boundy, K. L., Kneebone, C. S., Blumberg, P. C., Wilton, S. D., Speer, M. C., Kakulas, B. A.
منشور في 1992

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3)

بواسطة Joureau, B., de Winter, J.M., Conijn, S., Bogaards, S.J.P., Kovacevic, I., Kalganov, A., Persson, M., Lindqvist, J., Stienen, G.J.M., Irving, T.C., Ma, W., Yuen, M., Clarke, N.F., Rassier, D.E., Malfatti, E., Romero, N.B., Beggs, A.H., Ottenheijm, C.A.C
الحاوية / القاعدة Ann Neurol (2018)

The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion

بواسطة Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kaariainen, H., de la Chapelle, A., Kiuru, A., Savontaus, M.-L., Gilgenkrantz, H., Récan, D., Chelly, J., Kaplan, J.-C., Covone, A. E., Archidiacono, N., Romeo, G., Liechti-Gallati, S., Schneider, V., Braga, S., Moser, H., Darras, B. T., Murphy, P., Francke, U., Chen, J. D., Morgan, G., Denton, M., Greenberg, C. R., Wrogemann, K., Blonden, L. A. J., van Paassen, H. M. B., van Ommen, G. J. B., Kunkel, L. M.
منشور في 1989

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

بواسطة Kim, J., Hu, C., Moufawad El Achkar, C., Black, L.E., Douville, J., Larson, A., Pendergast, M.K., Goldkind, S.F., Lee, E.A., Kuniholm, A., Soucy, A., Vaze, J., Belur, N.R., Fredriksen, K., Stojkovska, I., Tsytsykova, A., Armant, M., DiDonato, R.L., Choi, J., Cornelissen, L., Pereira, L.M., Augustine, E.F., Genetti, C.A., Dies, K., Barton, B., Williams, L., Goodlett, B.D., Riley, B.L., Pasternak, A., Berry, E.R., Pflock, K.A., Chu, S., Reed, C., Tyndall, K., Agrawal, P.B., Beggs, A.H., Grant, P.E., Urion, D.K., Snyder, R.O., Waisbren, S.E., Poduri, A., Park, P.J., Patterson, A., Biffi, A., Mazzulli, J.R., Bodamer, O., Berde, C.B., Yu, T.W.
الحاوية / القاعدة N Engl J Med (2019)