P
PF Worth
Researcher at Norfolk and Norwich University Hospital
Publications - 22
Citations - 1154
PF Worth is an academic researcher from Norfolk and Norwich University Hospital. The author has contributed to research in topics: Spinocerebellar ataxia & Autosomal dominant cerebellar ataxia. The author has an hindex of 14, co-authored 21 publications receiving 1065 citations.
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Journal ArticleDOI
Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.
Henry Houlden,Janel O. Johnson,Christopher Gardner-Thorpe,Tammaryn Lashley,Dena G. Hernandez,PF Worth,Andrew B. Singleton,David A Hilton,Janice L. Holton,Tamas Revesz,Mary B. Davis,Paolo Giunti,Nicholas W. Wood +12 more
TL;DR: Mutations in the gene encoding tau tubulin kinase 2 (TTBK2) are identified as the cause of spinocerebellar ataxia type 11 and affected brain tissue showed substantial cerebellar degeneration and tau deposition, suggesting that TTBK2 is important in the tau cascade and in spinocesrebellary degeneration.
Journal ArticleDOI
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model
Andrea H. Németh,Andrea H. Németh,Andrea H. Németh,Alexandra Kwasniewska,Alexandra Kwasniewska,Stefano Lise,Ricardo P Schnekenberg,Ricardo P Schnekenberg,Esther B. E. Becker,Katarzyna Bera,Morag Shanks,Lorna Gregory,David Buck,M. Zameel Cader,Kevin Talbot,Rajith de Silva,Nicholas A. Fletcher,Rob Hastings,Sandeep Jayawant,Patrick J. Morrison,PF Worth,Malcolm Taylor,John Tolmie,Mary O'Regan,Ruth Valentine,Emily Packham,Julie Evans,A Seller,Jiannis Ragoussis +28 more
TL;DR: Genetic testing using targeted capture followed by next-generation sequencing was efficient, cost-effective, and enabled a molecular diagnosis in many refractory cases and has broad implications for clinical neurology practice and the approach to diagnostic testing.
Journal ArticleDOI
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.
PF Worth,Paola Giunti,Christopher Gardner-Thorpe,Peter H. Dixon,Mary B. Davis,Nicholas W. Wood +5 more
TL;DR: Results indicate the presence of two additionalADCA III loci and more clearly define the genetic heterogeneity of ADCA III.
Journal ArticleDOI
Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.
Journal ArticleDOI
Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutation.
TL;DR: Analysis of the clinical features in the patients with SCA7 confirmed that the most frequently associated features are pigmentary maculopathy, pyramidal tract involvement, and slow saccades, and it is provided evidence that these repeats represent intermediate alleles that are prone to further expansion.