Cerebellar volume mediates the relationship between FMR1 mRNA levels and voluntary step initiation in males with the premutation
- Creator: Hocking, Darren R. , Birch, Rachael C. , Trollor, Julian N. , Bui, Quang M. , Menant, Jasmine C. , Lord, Stephen R. , Georgiou-Karistianis, Nellie , Godler, David E. , Wen, Wei , Hackett, Anna , Rogers, Carolyn
- Resource Type: journal article
- Date: 2017
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: a case report
- Creator: Hwang, Yun Tae , Aliaga, Solange Mabel , Heard, Robert , Godler, David Eugeny , Arpone, Marta , Francis, David , Li, Xin , Chong, Belinda , Slater, Howard Robert , Rogers, Carolyn , Bretherton, Lesley , Hunter, Matthew
- Resource Type: journal article
- Date: 2016
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Creator: Hackett, Anna , Tarpey, Patrick S. , Tolmie, John , Yates, John R. W. , Turner, Gillian , WIlson, Meredith , Futreal, Andrew P. , Corbett, Mark , Shaw, Marie , Gecz, Jozef , Raymond, F. Lucy , Stratton, Micahel R. , Licata, Andrea , Schwartz, Charles E. , Abidi, Fatima E. , Cox, James , Whibley, Annabel , Boyle, Jackie , Rogers, Carolyn , Grigg, John , Partington, Michael , Stevenson, Roger E.
- Resource Type: journal article
- Date: 2010