Search results

• 2010

  Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

  Southgate, L., Dafou, D., Hoyle, J., Li, N., Kinning, E., Critchley, P., Nemeth, A. H., Talbot, K., Bindu, P. S., Sinha, S., Taly, A. B., Raghavendra, S., Mueller, F., Maher, E. R. & Trembath, R. C., Oct 2010, In: NEUROGENETICS. 11, 4, p. 379 - 389 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Gene 100%
  • Spectrum 50%
  • Gene Analysis 50%
  • Candidate Gene 50%
  • Sequencing 50%
  30 Citations (Scopus)
• 2006

  Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

  Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C., Roberts, E., Awan, M., Surendran, M., McLean, R., Reinwcke, R., Langmann, A., Lindner, S., Koch, M., Jain, S., Woodruff, G., Gale, R., Degg, C., Droutsas, K. & Asproudis, I. & 22 others, Zubcov, A., Pieh, C., Veal, C., Machado, R., Backhouse, O., Baumber, L., Constantinescu, C., Brodsky, M., Hunter, D., Hertle, R., Read, R., Edkins, S., O'Meara, S., Parker, A., Stevens, C., Teague, J., Wooster, R., Futreal, P., Trembath, R., Stratton, M., Raymond, F. & Gottlob, I., 23 Nov 2006, In: Nature Genetics. 38, 11, p. 1242 - 1244 3 p.

  Research output: Contribution to journal › Article › peer-review

  • Family 100%
  • Brain 25%
  • Male 25%
  • Female 25%
  • Screening 25%
  164 Citations (Scopus)
• 2005

  Identification of a novel mutation disrupting the DNA-binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.

  Baumber, L., Tufarelli, C., Patel, S., King, P., Johnson, C. A., Maher, E. R. & Trembath, R. C., May 2005, In: Journal of Medical Genetics. 42, 5, p. 443 - 448 6 p.

  Research output: Contribution to journal › Article › peer-review
  65 Citations (Scopus)