Mary B. Davis

Overview

Best Publications

• Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

  Coro Paisan-Ruiz;Kailash P. Bhatia;Kailash P. Bhatia;Abi Li;Dena Hernandez

  544
  Citations

• Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing

  Sinead M Murphy;Matilde Laura;Katherine Fawcett;Amelie Pandraud

  397
  Citations

• Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

  Naheed L. Khan;Shushant Jain;John M. Lynch;Nicola Pavese

  376
  Citations

• The phenotypic manifestations of chromosome 17p11.2 duplication.

  P. K. Thomas;W. Marques;M. B. Davis;M. G. Sweeney

  341
  Citations

• Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

  Claudia B. Catarino;Joan Y.W. Liu;Ioannis Liagkouras;Vaneesha S. Gibbons

  240
  Citations

• Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis.

  E. Matthews;R. Labrum;M. G. Sweeney;R. Sud

  237
  Citations

• Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

  Henry Houlden;Janel Johnson;Christopher Gardner-Thorpe;Tammaryn Lashley

  233
  Citations

• Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

  Iris Trender-Gerhard;Mary G Sweeney;Petra Schwingenschuh;Pablo Mir

  197
  Citations

• Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

  Joshua Hersheson;Niccolo E. Mencacci;Niccolo E. Mencacci;Mary Davis;Nicola MacDonald

  192
  Citations

• Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.

  P.F. Worth;P. Giunti;C. Gardner-Thorpe;P.H. Dixon

  180
  Citations

• PARK6-linked parkinsonism occurs in several European families.

  Enza Maria Valente;Francesco Brancati;Alessandro Ferraris;Elizabeth A. Graham

  167
  Citations

• A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16.

  E M Valente;S D Spacey;G M Wali;K P Bhatia

  155
  Citations

• Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

  A E Harding;I J Holt;M G Sweeney;M Brockington

  148
  Citations

• Large, expanded repeats in SCA8 are not confined to patients with cerebellar ataxia.

  Paul F. Worth;Henry Houlden;Paola Giunti;Mary B. Davis

  147
  Citations

• Huntington's disease phenocopies are clinically and genetically heterogeneous

  Edward J. Wild;Ese E. Mudanohwo;Mary G. Sweeney;Susanne A. Schneider

  143
  Citations

• Prevalence study of genetically defined skeletal muscle channelopathies in England

  Alejandro Horga;Dipa L. Raja Rayan;Emma Matthews;Richa Sud

  139
  Citations

• The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.

  P Giunti;G Sabbadini;Mg Sweeney;Mb Davis

  131
  Citations

• Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

  Jonathan A. Beck;Mark Poulter;Tracy A. Campbell;James B. Uphill

  130
  Citations

• Acetazolamide efficacy in hypokalemic periodic paralysis and the predictive role of genotype

  E. Matthews;S. Portaro;Q. Ke;R. Sud

  128
  Citations

• Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

  M.M. Reilly;D. Adams;D.R. Booth;M.B. Davis

  126
  Citations