Adult-onset nemaline myopathy and monoclonal gammopathy.
Keller, Christian, Arthur Hays, Lewis Rowland, Behzad Moghadaszadeh, Alan Beggs, and Govind Bhagat. 2006. “Adult-Onset Nemaline Myopathy and Monoclonal Gammopathy.”. Arch Neurol 63 (1): 132-4.
Search
Search results
356 results found
Side population cells isolated from different tissues share transcriptome signatures and express tissue-specific markers.
Liadaki, Kho, Sanoudou, Schienda, Flint, AH Beggs, Kohane, and Kunkel. 2005. “Side Population Cells Isolated from Different Tissues Share Transcriptome Signatures and Express Tissue-Specific Markers.”. Exp Cell Res 303 (2): 360-74.
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle.
Sanoudou, Despina, Judith Haslett, Alvin Kho, Shaoqiang Guo, Hanna Gazda, Steven Greenberg, Hart Lidov, Isaac Kohane, Louis Kunkel, and Alan Beggs. 2003. “Expression Profiling Reveals Altered Satellite Cell Numbers and Glycolytic Enzyme Transcription in Nemaline Myopathy Muscle.”. Proc Natl Acad Sci U S A 100 (8): 4666-71.
Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease.
Zervos, Hunt, Tong, Avallone, Morales, Friedman, Cohen, et al. 2002. “Clinical, Genetic and Histopathologic Findings in Two Siblings With Muscle-Eye-Brain Disease.”. Eur J Ophthalmol 12 (4): 253-61.
Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.
Splawski, Igor, Katherine Timothy, Michihiro Tateyama, Colleen Clancy, Alka Malhotra, Alan Beggs, Francesco Cappuccio, Giuseppe Sagnella, Robert Kass, and Mark Keating. 2002. “Variant of SCN5A Sodium Channel Implicated in Risk of Cardiac Arrhythmia.”. Science 297 (5585): 1333-6.
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease.
Gazda, Lipton, Willig, Ball, Niemeyer, Tchernia, Mohandas, et al. 2001. “Evidence for Linkage of Familial Diamond-Blackfan Anemia to Chromosome 8p23.3-P22 and for Non-19q Non-8p Disease.”. Blood 97 (7): 2145-50.
Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.
Kaplan, Kim, North, Rennke, Correia, Tong, Mathis, et al. 2000. “Mutations in ACTN4, Encoding Alpha-Actinin-4, Cause Familial Focal Segmental Glomerulosclerosis.”. Nat Genet 24 (3): 251-6.
Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo.
Chan, Tong, AH Beggs, and Kunkel. 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 (1): 134-9.
Differential regional expression and ultrastructural localization of alpha-actinin-2, a putative NMDA receptor-anchoring protein, in rat brain.
Wyszynski, Kharazia, Shanghvi, Rao, AH Beggs, Craig, Weinberg, and Sheng. 1998. “Differential Regional Expression and Ultrastructural Localization of Alpha-Actinin-2, a Putative NMDA Receptor-Anchoring Protein, in Rat Brain.”. J Neurosci 18 (4): 1383-92.
The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.
Khurana, Specht, AH Beggs, Tomé, Letureq, Chevallay, Chafey, and Kunkel. 1997. “The Concomitant Use of Dystrophin and Utrophin/Dystrophin Related Protein Antibodies to Reduce Misdiagnosis of Duchenne/Becker Muscular Dystrophy.”. Biochem Biophys Res Commun 241 (2): 232-5.