Improved diagnosis of Duchenne/Becker muscular dystrophy.

Por Beggs, A H, Kunkel, L M
Publicado em 1990

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

Por Beggs, A H, Migeon, B R
Publicado em 1989

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

Por Tahvanainen, E, Beggs, A H, Wallgren-Pettersson, C
Publicado em 1994

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

Por Beggs, A H, Frisque, R J, Scangos, G A
Publicado em 1988

Dystrophin is transcribed in brain from a distant upstream promoter.

Por Boyce, F M, Beggs, A H, Feener, C, Kunkel, L M
Publicado em 1991

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

Por Engle, E C, Castro, A E, Macy, M E, Knoll, J H, Beggs, A H
Publicado em 1997

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

Por Beggs, A H, Neumann, P E, Arahata, K, Arikawa, E, Nonaka, I, Anderson, M S, Kunkel, L M
Publicado em 1992

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

Por Wang, S M, Zwaan, J, Mullaney, P B, Jabak, M H, Al-Awad, A, Beggs, A H, Engle, E C
Publicado em 1998

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

Por Snead, E.C.R., Taylor, S.M., van der Kooij, M., Cosford, K., Beggs, A.H., Shelton, G.D.
Publicado no J Vet Intern Med (2015)

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

Por Beggs, A H, Hoffman, E P, Snyder, J R, Arahata, K, Specht, L, Shapiro, F, Angelini, C, Sugita, H, Kunkel, L M
Publicado em 1991

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

Por Engle, E C, Marondel, I, Houtman, W A, de Vries, B, Loewenstein, A, Lazar, M, Ward, D C, Kucherlapati, R, Beggs, A H
Publicado em 1995

Large duplication in MTM1 associated with myotubular myopathy

Por 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.
Publicado em 2012

Dystrophin analysis in idiopathic dilated cardiomyopathy.

Por 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
Publicado em 1993

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

Por 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.
Publicado em 2012

Functional muscle analysis of the Tcap knockout mouse

Por 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.
Publicado em 2010

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

Por 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.
Publicado em 1992

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

Por 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
Publicado no Ann Neurol (2018)

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

Por 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.
Publicado em 1989

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Por 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.
Publicado no N Engl J Med (2019)