Research Topics
Species | D A GrimesSummaryAffiliation: University of Ottawa Country: Canada Publications
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Detail Information
Publications
Phenocopies in a large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture?D A Grimes
Parkinson s Disease and Movement disorders Clinic, The Ottawa Hospital, Ottawa, Canada
J Neurol Neurosurg Psychiatry 72:801-4. 2002..Dopa responsive dystonia (DRD) is a disorder characterised by childhood onset dystonia but a wide range of clinical presentations has now been described...
Neurofilament M gene in a French-Canadian population with Parkinson's diseaseF Han
Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
Can J Neurol Sci 32:68-70. 2005..However, these results do not exclude the possibility that other mutations in this gene could be present...- Translated mutation in the Nurr1 gene as a cause for Parkinson's diseaseDavid A Grimes
Department of Medicine, Division of Neurology, Ottawa Hospital, Ottawa, Ontario, Canada
Mov Disord 21:906-9. 2006..The novel mutation in exon 3 is predicted to affect phosphorylation and functional studies to assess this are underway. This is the first coding mutation identified in the Nurr1 gene for Parkinson's disease... - Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 LocusDavid A Grimes
Ottawa Health Research Institute, Ottawa, Canada
Mov Disord 17:1390-2. 2002..We describe a four-generation family with this condition and, using linkage analysis, have excluded the 9q13-21 region as causing the chin trembling in this family... - Large French-Canadian family with Lewy body parkinsonism: exclusion of known lociDavid A Grimes
Ottawa Health Research Institute, Ottawa, Canada
Mov Disord 17:1205-12. 2002..This family further demonstrates the known genetic heterogeneity in PD and is large enough that a genome-wide screen has been undertaken in an effort to identify a novel PD gene... - A novel locus for inherited myoclonus-dystonia on 18p11D A Grimes
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa, Canada
Neurology 59:1183-6. 2002.... - Parkinson's genetics--creating exciting new insightsD A Grimes
Parkinson s Disease and Movement disorders Clinic, The Ottawa Hospital, Civic Campus, 1053 Carling Ave, K1Y 4E9, Ottawa, Ont, Canada
Parkinsonism Relat Disord 8:459-64. 2002..As additional Parkinson's disease loci are mapped and their genes identified we will continue to add to our understating of the critical biochemical pathways involved and be able to develop effective disease altering treatments... - LRRK2 screening in a Canadian Parkinson's disease cohortD A Grimes
Department of Medicine, Division of Neurology, The Ottawa Hospital, Ottawa Health Research Institute, University of Ottawa, ON, Canada
Can J Neurol Sci 34:336-8. 2007..The frequency of mutations described in the literature varies widely depending on the population studied with most reports focusing only on screening for the most common G2019S mutation in exon 41... - Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia familiesF Han
Ottawa Health Research Institute, Centre for Neuromuscular Disease, University of Ottawa, Ontario, Canada
Neurology 61:244-6. 2003..Mutations in the SGCE gene were found in the minority of families screened in this series... - A Nurr1 point mutant, implicated in Parkinson's disease, uncouples ERK1/2-dependent regulation of tyrosine hydroxylase transcriptionKirsten X Jacobsen
Ottawa Health Research Institute, Ottawa, Ontario, Canada
Neurobiol Dis 29:117-22. 2008..These results indicate that Ser125 is critical for basal and ERK1/2-induced NURR1 activity and suggest a role for this and other NURR1 mutations in the regulation of dopamine synthesis and predisposition to Parkinson's disease... - Tremor--easily seen but difficult to describe and treatD A Grimes
Parkinson's Disease and Movement Disorders Clinic, The Ottawa Hospital, Ottawa, Canada
Can J Neurol Sci 30:S59-63. 2003..The diagnosis and management of essential tremor is presented in more detail, as it is the most commonly encountered tremor... - Refinement of the DYT15 locus in myoclonus dystoniaFabin Han
Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada
Mov Disord 22:888-92. 2007..Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations.... - Large deletions account for an increasing number of mutations in SGCEFabin Han
Ottawa Health Research Institute, Ottawa, Ontario, Canada
Mov Disord 23:456-60. 2008..This is only the second report of intragenic deletions with SGCE and it highlights the need to include exonic copy number variation when performing mutational analysis of SGCE... - Is there seasonal variation in risk of Parkinson's disease?Ronald B Postuma
Department of Neurology, McGill University, Montreal General Hospital, Montreal, Quebec, Canada
Mov Disord 22:1097-101. 2007..We found no evidence of systematic seasonal variation in PD incidence by birth date, or of clustering of birth dates during influenza pandemic years in PD patients... - UncertaintyDavid A Grimes
Family Health International, Research Triangle Park, NC 27709, USA
Lancet 360:1242. 2002 - The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathwayHsien Yang Lee
Department of Neurology, UCSF, San Francisco, CA, USA
Hum Mol Genet 13:3161-70. 2004..Stress response pathways will be important areas for elucidation of episodic disease genetics where stress is a common precipitant of many common disorders like epilepsy, migraine and cardiac arrhythmias...