Bonnemann, C G; Wong, J; Jones, K J et al. (2002) Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord 12:273-80
|
Peters, M F; Sadoulet-Puccio, H M; Grady, M R et al. (1998) Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol 142:1269-78
|
Scharf, J M; Endrizzi, M G; Wetter, A et al. (1998) Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet 20:83-6
|
Chan, Y; Tong, H Q; Beggs, A H et al. (1998) Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. Biochem Biophys Res Commun 248:134-9
|
Bonnemann, C G; Wong, J; Ben Hamida, C et al. (1998) LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3. Neuromuscul Disord 8:193-7
|
Peters, M F; O'Brien, K F; Sadoulet-Puccio, H M et al. (1997) beta-dystrobrevin, a new member of the dystrophin family. Identification, cloning, and protein associations. J Biol Chem 272:31561-9
|
Carter, T A; Bonnemann, C G; Wang, C H et al. (1997) A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Hum Mol Genet 6:229-36
|
Gussoni, E; Blau, H M; Kunkel, L M (1997) The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med 3:970-7
|
Sadoulet-Puccio, H M; Feener, C A; Schaid, D J et al. (1997) The genomic organization of human dystrobrevin. Neurogenetics 1:37-42
|
Sadoulet-Puccio, H M; Rajala, M; Kunkel, L M (1997) Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A 94:12413-8
|
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