Sigurd Dobloug

Sökresultat

• 2024

  Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants

  Dobloug, S., Kjellström, U., Anderson, G., Gardner, E., Mole, S. E., Sheth, J. & Puschmann, A., 2024 aug., I: Molecular Genetics and Genomic Medicine. 12, 8, e2505.

  Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

  Öppen tillgång

  • Gene 100%
  • Ataxia 100%
  • Major Facilitator Superfamily 100%
  • Retinal Dystrophy 42%
  • Macular Dystrophy 28%

• Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia

  Gorcenco, S., Kafantari, E., Wallenius, J., Karremo, C., Alinder, E., Dobloug, S., Landqvist Waldö, M., Englund, E., Ehrencrona, H., Wictorin, K., Karrman, K. & Puschmann, A., 2024, I: Journal of Neurology. 271, 1, s. 526-542

  Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

  Öppen tillgång

  • Genetics 100%
  • Genetic Divergence 80%
  • Phenotype 40%
  • Clinical Trial 20%
  • Next Generation Sequencing 20%

• Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

  Wallenius, J., Kafantari, E., Jhaveri, E., Gorcenco, S., Ameur, A., Karremo, C., Dobloug, S., Karrman, K., de Koning, T., Ilinca, A., Landqvist Waldö, M., Arvidsson, A., Persson, S., Englund, E., Ehrencrona, H. & Puschmann, A., 2024, I: American Journal of Human Genetics. 111, 1, s. 82-95

  Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift › Peer review

  Öppen tillgång

  • Trinucleotide Repeat Expansion 100%
  • Zinc Finger 100%
  • Homeobox 100%
  • Trinucleotide Repeat 100%
  • Phenotype 50%