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335 results found

Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

Publication: Journal Article

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.

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

Publication: Journal Article

Beggs, AH, Hoffman, Snyder, Arahata, Specht, Shapiro, Angelini, Sugita, and Kunkel. 1991. “Exploring the Molecular Basis for Variability Among Patients With Becker Muscular Dystrophy: Dystrophin Gene and Protein Studies.”. Am J Hum Genet 49 (1): 54-67.

A polymorphic CACA repeat in the 3' untranslated region of dystrophin.

Publication: Journal Article

Beggs, AH, and Kunkel. 1990. “A Polymorphic CACA Repeat in the 3’ Untranslated Region of Dystrophin.”. Nucleic Acids Res 18 (7): 1931.

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

Publication: Journal Article

Beggs, AH, and Migeon. 1989. “Chromatin Loop Structure of the Human X Chromosome: Relevance to X Inactivation and CpG Clusters.”. Mol Cell Biol 9 (6): 2322-31.

Consequences of antibiotics and infections in infancy: bugs, drugs, and wheezing

Publication: Journal Article

Ong, Umetsu, and Mandl. 2014. “Consequences of Antibiotics and Infections in Infancy: Bugs, Drugs, and Wheezing”. Ann Allergy Asthma Immunol.