Henry Houlden
University College London Institute of Neurology
Queen Square
London WC1N 3BG
England
Name/email consistency: high
- THAP1 mutations (DYT6) are an additional cause of early-onset dystonia. Houlden, H., Schneider, S.A., Paudel, R., Melchers, A., Schwingenschuh, P., Edwards, M., Hardy, J., Bhatia, K.P. Neurology (2010)
- A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. Houlden, H., Hammans, S., Katifi, H., Reilly, M.M. Neurology (2009)
- Pupil abnormalities in 131 cases of genetically defined inherited peripheral neuropathy. Houlden, H., Reilly, M.M., Smith, S. Eye. (Lond) (2009)
- The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Houlden, H., Laura, M., Ginsberg, L., Jungbluth, H., Robb, S.A., Blake, J., Robinson, S., King, R.H., Reilly, M.M. Neuromuscul. Disord. (2009)
- The small, spastic, and furrowed tongue of Allgrove syndrome. Houlden, H. Neurology (2009)
- Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Houlden, H., Laura, M., Wavrant-De Vrièze, F., Blake, J., Wood, N., Reilly, M.M. Neurology (2008)
- New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. Houlden, H., Groves, M., Miedzybrodzka, Z., Roper, H., Willis, T., Winer, J., Cole, G., Reilly, M.M. J. Neurol. Neurosurg. Psychiatr. (2007)
- Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Houlden, H., Johnson, J., Gardner-Thorpe, C., Lashley, T., Hernandez, D., Worth, P., Singleton, A.B., Hilton, D.A., Holton, J., Revesz, T., Davis, M.B., Giunti, P., Giunti, P., Wood, N.W. Nat. Genet. (2007)
- Neurology and orthopaedics. Houlden, H., Charlton, P., Singh, D. J. Neurol. Neurosurg. Psychiatr. (2007)
- Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Houlden, H., Girard, M., Cockerell, C., Ingram, D., Wood, N.W., Goossens, M., Walker, R.W., Reilly, M.M. Ann. Neurol. (2004)