Transcriptional profile of postmortem skeletal muscle.
Sanoudou, Despina, Peter Kang, Judith Haslett, Mei Han, Louis Kunkel, and Alan Beggs. 2004. “Transcriptional Profile of Postmortem Skeletal Muscle.”. Physiol Genomics 16 (2): 222-8.
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ACTN3 genotype is associated with human elite athletic performance.
Yang, Nan, Daniel Macarthur, Jason Gulbin, Allan Hahn, Alan Beggs, Simon Easteal, and Kathryn North. 2003. “ACTN3 Genotype Is Associated With Human Elite Athletic Performance.”. Am J Hum Genet 73 (3): 627-31.
Reproducibility of gene expression across generations of Affymetrix microarrays.
Nimgaonkar, Ashish, Despina Sanoudou, Atul Butte, Judith Haslett, Louis Kunkel, Alan Beggs, and Isaac Kohane. 2003. “Reproducibility of Gene Expression across Generations of Affymetrix Microarrays.”. BMC Bioinformatics 4: 27.
Clinical course correlates poorly with muscle pathology in nemaline myopathy.
Ryan, Ilkovski, Strickland, Schnell, Sanoudou, Midgett, Houston, et al. 2003. “Clinical Course Correlates Poorly With Muscle Pathology in Nemaline Myopathy.”. Neurology 60 (4): 665-73.
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.
Wattanasirichaigoon, Swoboda, Takada, Tong, Lip, Iannaccone, Wallgren-Pettersson, Laing, and AH Beggs. 2002. “Mutations of the Slow Muscle Alpha-Tropomyosin Gene, TPM3, Are a Rare Cause of Nemaline Myopathy.”. Neurology 59 (4): 613-7.
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak, Wattanasirichaigoon, Goebel, Wilce, Pelin, Donner, Jacob, et al. 1999. “Mutations in the Skeletal Muscle Alpha-Actin Gene in Patients With Actin Myopathy and Nemaline Myopathy.”. Nat Genet 23 (2): 208-12.
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
Satler, Vesely, Duggal, Ginsburg, and AH Beggs. 1998. “Multiple Different Missense Mutations in the Pore Region of HERG in Patients With Long QT Syndrome.”. Hum Genet 102 (3): 265-72.
Competitive binding of alpha-actinin and calmodulin to the NMDA receptor.
Wyszynski, Lin, Rao, Nigh, AH Beggs, Craig, and Sheng. 1997. “Competitive Binding of Alpha-Actinin and Calmodulin to the NMDA Receptor.”. Nature 385 (6615): 439-42.
Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy.
North, Miller, Iannaccone, Clemens, Chad, Bella, Smith, AH Beggs, and Specht. 1996. “Cognitive Dysfunction As the Major Presenting Feature of Becker’s Muscular Dystrophy.”. Neurology 46 (2): 461-5.
Human pituitary adenomas show no loss of heterozygosity at the retinoblastoma gene locus.
Zhu, Leon, AH Beggs, Busque, Gilliland, and Black. 1994. “Human Pituitary Adenomas Show No Loss of Heterozygosity at the Retinoblastoma Gene Locus.”. J Clin Endocrinol Metab 78 (4): 922-7.