Syntrophin binds to an alternatively spliced exon of dystrophin.

Andrew H. Ahn, L M Kunkel

The Journal of Cell Biology

Protein SecretionMolecular BiologyCytoskeletonCellular PhysiologyProtein Expression +15

Dystrophin is transcribed in brain from a distant upstream promoter.

Frederick M. Boyce, Alan H. Beggs, C Feener, +1

Proceedings of the National Academy of Sciences

Brain PromoterTranscriptional RegulationNeurodegenerative DiseasesDevelopmental BiologyMolecular Neuroscience +10

Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

Ingrid A. Holm, Xiaoyan Huang, L M Kunkel

PubMed

Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses.

Kiichi Arahata, Eric P. Hoffman, L M Kunkel, +7

Proceedings of the National Academy of Sciences

Immunofluorescence LocalizationImmunologyDiagnosisPathologyBecker Muscular Dystrophy +14

Cloning of human basic A1, a distinct 59-kDa dystrophin-associated protein encoded on chromosome 8q23-24.

Andrew H. Ahn, Minoru Yoshida, Mark S. Anderson, +5

Proceedings of the National Academy of Sciences

GeneticsMolecular BiologyMolecular GeneticsCytoskeletonDisease Gene Identification +17

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I.

Nigel G. Laing, Bernadette T. Majda, P. Anthony Akkari, +7

PubMed

Enormous dystrophin in a patient with Becker muscular dystrophy

C. Angelini, Alan H. Beggs, Eric P. Hoffman, +1

Neurology

Fine-mapping of the spinal muscular atrophy locus to a region flanked by MAP1B and D5S6

Linda M. Brzustowicz, Patrick W. Kleyn, Frederick M. Boyce, +9

Genomics

Spinal Cord InjuryGenetic DisorderGeneticsDegenerative DiseaseMolecular Genetics +5

Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy.

Alan H. Beggs, Paul E. Neumann, Kiichi Arahata, +4

Proceedings of the National Academy of Sciences

Rare DiseasesDevelopmental BiologyPossible InfluencesFcmd MalesGenetic Disorder +13

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder

Badri N. Vardarajan, Alal Eran, J-Y Jung, +2

Translational Psychiatry