Improved diagnosis of Duchenne/Becker muscular dystrophy.

Tekijä Beggs, A H, Kunkel, L M
Julkaistu 1990

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

Tekijä Beggs, A H, Migeon, B R
Julkaistu 1989

Exclusion of two candidate loci for autosomal recessive nemaline myopathy.

Tekijä Tahvanainen, E, Beggs, A H, Wallgren-Pettersson, C
Julkaistu 1994

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

Tekijä Beggs, A H, Frisque, R J, Scangos, G A
Julkaistu 1988

Dystrophin is transcribed in brain from a distant upstream promoter.

Tekijä Boyce, F M, Beggs, A H, Feener, C, Kunkel, L M
Julkaistu 1991

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

Tekijä Engle, E C, Castro, A E, Macy, M E, Knoll, J H, Beggs, A H
Julkaistu 1997

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

Tekijä Beggs, A H, Neumann, P E, Arahata, K, Arikawa, E, Nonaka, I, Anderson, M S, Kunkel, L M
Julkaistu 1992

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

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

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

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

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

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

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

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

Large duplication in MTM1 associated with myotubular myopathy

Tekijä 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.
Julkaistu 2012

Dystrophin analysis in idiopathic dilated cardiomyopathy.

Tekijä 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
Julkaistu 1993

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

Tekijä 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.
Julkaistu 2012

Functional muscle analysis of the Tcap knockout mouse

Tekijä 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.
Julkaistu 2010

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

Tekijä 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.
Julkaistu 1992

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

Tekijä 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
Julkaisussa Ann Neurol (2018)

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

Tekijä 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.
Julkaistu 1989

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

Tekijä 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.
Julkaisussa N Engl J Med (2019)