Henry Houlden
UCL Institute of Neurology
814 Papers
2K Citations
Henry Houlden is an academic researcher from UCL Institute of Neurology. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 86, co-authored 661 publications. Previous affiliations of Henry Houlden include Great Ormond Street Hospital for Children NHS Foundation Trust & Mayo Clinic.
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Papers
K11 C9orf72 Expansions Are The Most Common Genetic Cause Of Huntington’s Disease Phenocopy Presentations In A Uk Cohort
DJ Hensman Moss,Mark Poulter,John Beck,James M. Polke,T Campbell,Gary Adamson,Jason Hehir,Ese E. Mudanohwo,Peter McColgan,Edward J. Wild,A Haworth,Mary G. Sweeney,Henry Houlden,Simon Mead,Sarah J. Tabrizi +14 more
TL;DR: This study extends the known phenotype of the C9orf72 expansion, both in age of onset and movement disorder symptoms, and proposes a revised clinico-genetic algorithm for the investigation of HD-phenocopy patients based on these data.
R1352Q CACNA1A Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report.
TL;DR: In this article, a de novo heterozygous nucleotide missense mutation in exon 25 of the CACNA1A gene (c.4055G>A, p.R1352Q).
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases
A Sailer,Sonja W. Scholz,J. Raphael Gibbs,Arianna Tucci,Janel O. Johnson,Nicholas W. Wood,Vincent Plagnol,Holger Hummerich,Jinhui Ding,Dena G. Hernandez,John Hardy,Howard J. Federoff,Bryan J. Traynor,Andrew B. Singleton,Henry Houlden +14 more
TL;DR: Exome sequencing is more comprehensive, faster, and significantly cheaper than conventional Sanger sequencing, and thus represents a superior diagnostic screening tool in clinical practice and demonstrates the utility of exome sequencing to rapidly screen heterogeneous genetic disorders such as the ataxias.
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22
Matt Baker,John B.J. Kwok,Steve Kucera,Richard Crook,Matthew J. Farrer,Henry Houlden,Adrian M. Isaacs,Sarah Lincoln,Luisa Onstead,John Hardy,Leonie Wittenberg,Peter R. Dodd,S. I. Webb,Nicholas K. Hayward,Tony Tannenberg,Athena Andreadis,Marianne Hallupp,Peter R. Schofield,Frances Dark,Mike Hutton +19 more
TL;DR: This analysis included the microtubule‐associated protein tau that is the major component of the paired helical filaments observed in Alzheimer's disease, and no pathogenic mutations were identified in either the tau gene or in any of the other genes analyzed.