Topaloglu, Haluk A.

Top Publications

Top Publications Authored or Co-Authored by "Topaloglu, Haluk A."

• The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy

  Nature Genetics, Volume 26, No. 3, Year 2000, Citations 391
• Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)

  Nature Genetics, Volume 26, No. 4, Year 2000, Citations 273
• Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping

  Human Molecular Genetics, Volume 3, No. 9, Year 1994, Citations 194
• Early onset collagen VI myopathies: Genetic and clinical correlations

  Annals of Neurology, Volume 68, No. 4, Year 2010, Citations 115
• Spectrum of HSPG2 (perlecan) mutations in patients with Schwartz-Jampel syndrome

  Human Mutation, Volume 27, No. 11, Year 2006, Citations 106