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190 results found

Telethonin protein expression in neuromuscular disorders.

Publication: Journal Article

Vainzof, Mariz, Eloisa Moreira, Oscar Suzuki, Georgine Faulkner, Georgio Valle, Alan Beggs, Olli Carpen, et al. 2002. “Telethonin Protein Expression in Neuromuscular Disorders.”. Biochim Biophys Acta 1588 (1): 33-40.

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

Publication: Journal Article

Mizuno, Puca, O’Brien, AH Beggs, and Kunkel. 2001. “Genomic Organization and Single-Nucleotide Polymorphism Map of Desmuslin, a Novel Intermediate Filament Protein on Chromosome 15q26.3.”. BMC Genet 2: 8.

Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines.

Publication: Journal Article

Takada, Vander Woude, Tong, Thompson, Watkins, Kunkel, and AH Beggs. 2001. “Myozenin: an Alpha-Actinin- and Gamma-Filamin-Binding Protein of Skeletal Muscle Z Lines.”. Proc Natl Acad Sci U S A 98 (4): 1595-600.

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.

Publication: Journal Article

Wattanasirichaigoon, Vesely, Duggal, Levine, Blume, Wolff, Edwards, and AH Beggs. 1999. “Sodium Channel Abnormalities Are Infrequent in Patients With Long QT Syndrome: Identification of Two Novel SCN5A Mutations.”. Am J Med Genet 86 (5): 470-6.

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Publication: Journal Article

Pelin, Hilpelä, Donner, Sewry, Akkari, Wilton, Wattanasirichaigoon, et al. 1999. “Mutations in the Nebulin Gene Associated With Autosomal Recessive Nemaline Myopathy.”. Proc Natl Acad Sci U S A 96 (5): 2305-10.

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

Publication: Journal Article

Wang, Zwaan, Mullaney, Jabak, Al-Awad, AH Beggs, and Engle. 1998. “Congenital Fibrosis of the Extraocular Muscles Type 2, an Inherited Exotropic Strabismus Fixus, Maps to Distal 11q13.”. Am J Hum Genet 63 (2): 517-25.

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

Publication: Journal Article

Engle, Castro, Macy, Knoll, and AH Beggs. 1997. “A Gene for Isolated Congenital Ptosis Maps to a 3-CM Region Within 1p32-P34.1.”. Am J Hum Genet 60 (5): 1150-7.

Novel actin crosslinker superfamily member identified by a two step degenerate PCR procedure.

Publication: Journal Article

Byers, AH Beggs, McNally, and Kunkel. 1995. “Novel Actin Crosslinker Superfamily Member Identified by a Two Step Degenerate PCR Procedure.”. FEBS Lett 368 (3): 500-4.

Expression of the myelin basic protein gene in transgenic mice expressing human neurotropic virus, JCV, early protein.

Publication: Journal Article

Haas, Haque, AH Beggs, Khalili, Knobler, and Small. 1994. “Expression of the Myelin Basic Protein Gene in Transgenic Mice Expressing Human Neurotropic Virus, JCV, Early Protein.”. Virology 202 (1): 89-96.

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

Publication: Journal Article

Engle, Kunkel, Specht, and AH Beggs. 1994. “Mapping a Gene for Congenital Fibrosis of the Extraocular Muscles to the Centromeric Region of Chromosome 12.”. Nat Genet 7 (1): 69-73.