Affiliation: Trinity College
- Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort studySusan Byrne
Department of Neurology, Beaumont Hospital, Dublin, Ireland
Lancet Neurol 11:232-40. 2012..We assessed the frequency of the recently identified C9orf72 repeat expansion in familial and apparently sporadic cases of ALS and characterised the cognitive and clinical phenotype of patients with this expansion...
- Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosisSusan Byrne
Department of Neurology, Beaumont Hospital, Dublin, Ireland Trinity Biomedical Sciences Institute, School of Medicine, Dublin, Ireland
Ann Neurol 74:699-708. 2013....
- Basal ganglia involvement in amyotrophic lateral sclerosisPeter Bede
From the Biomedical Sciences Institute P B, M E, S B, A V, O H, and Smurfit Institute of Genetics R L M, K K, D G B, Trinity College Dublin and Department of Neuropsychology N P, Beaumont Hospital, Dublin, Ireland
Neurology 81:2107-15. 2013..To characterize the nature and extent of basal ganglia involvement in amyotrophic lateral sclerosis (ALS) genotypes in vivo...
- Multiparametric MRI study of ALS stratified for the C9orf72 genotypePeter Bede
Trinity College Institute of Neuroscience TCIN, Beaumont Hospital, Dublin, Ireland
Neurology 81:361-9. 2013..To describe the patterns of cortical and subcortical changes in amyotrophic lateral sclerosis (ALS) stratified for the C9orf72 genotype...
- Cognitive changes predict functional decline in ALS: a population-based longitudinal studyMarwa Elamin
Trinity College Institute of Neuroscience, Trinity College Dublin, Ireland
Neurology 80:1590-7. 2013..To determine whether cognitive status in patients with amyotrophic lateral sclerosis (ALS) is a useful predictor of attrition and motor and cognitive decline...
- Grey matter correlates of clinical variables in amyotrophic lateral sclerosis (ALS): a neuroimaging study of ALS motor phenotype heterogeneity and cortical focalityPeter Bede
Trinity College Institute of Neuroscience TCIN, Lloyd Building, Trinity College Dublin, Dublin, Ireland
J Neurol Neurosurg Psychiatry 84:766-73. 2013..Body region of onset and functional disability are key components of disease heterogeneity in amyotrophic lateral sclerosis (ALS)...
- Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencingKevin P Kenna
Smurfit Institute of Genetics, Trinity College, Dublin, Ireland
J Med Genet 50:776-83. 2013..Over 100 genes have been implicated in the aetiology of amyotrophic lateral sclerosis (ALS). A detailed understanding of their independent and cumulative contributions to disease burden may help guide various clinical and research efforts...
- The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based studyJulie Phukan
Trinity College Institute of Neuroscience, Dublin, Ireland
J Neurol Neurosurg Psychiatry 83:102-8. 2012..Despite considerable interest, the population-based frequency, clinical characteristics and natural history of cognitive impairment in amyotrophic lateral sclerosis (ALS) are not known...
- Analysis of the hexanucleotide repeat expansion and founder haplotype at C9ORF72 in an Irish psychosis case-control sampleCiara Fahey
Neuropsychiatric Genetics Research Group, Department of Psychiatry and Institute of Molecular Medicine, Trinity College Dublin, Dublin, Ireland
Neurobiol Aging 35:1510.e1-5. 2014..714, p < 0.001). Our study provides further evidence to bolster the claim that carriers of the repeat expansion at C9ORF72 arose from a single common founder...
- Survival analysis of irish amyotrophic lateral sclerosis patients diagnosed from 1995-2010James Rooney
Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Dublin, Ireland
PLoS ONE 8:e74733. 2013..Cox regression has become the default tool for survival analysis, but recently new classes of flexible parametric survival analysis tools known as Royston-Parmar models have become available...
- An Exploratory Spatial Analysis of ALS Incidence in Ireland over 17.5 Years (1995 - July 2013)James Rooney
Academic Unit of Neurology, Trinity Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland
PLoS ONE 9:e96556. 2014..Results to date have been inconclusive. The Irish ALS register has been recently geocoded, presenting opportunity to perform a spatial analysis on national prospectively gathered data of incident cases over an 18-year period...
- Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysisSusan Byrne
Deparment of Neurology, Beaumont Hospital, Beaumont Rd, Dublin 9, Ireland
J Neurol Neurosurg Psychiatry 82:623-7. 2011..The population rate of familial amyotrophic lateral sclerosis (FALS) is frequently reported as 10%. However, a systematic review and meta-analysis of the true population based frequency of FALS has never been performed...
- Spinal cord markers in ALS: diagnostic and biomarker considerationsPeter Bede
Trinity College Institute of Neuroscience, Centre for Advanced Medical Imaging, St James s Hosiptal, Dublin, Ireland
Amyotroph Lateral Scler 13:407-15. 2012..Novel quantitative spinal modalities have already been successfully used in ALS animal models and have the potential for development into sensitive ALS biomarkers in humans...
- Absence of consensus in diagnostic criteria for familial neurodegenerative diseasesSusan Byrne
Trinity College Institute of Neurosciences, Beaumont Hospital, Trinity College, Dublin, Ireland
J Neurol Neurosurg Psychiatry 83:365-7. 2012..These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene discovery...
- Sexual dimorphism in ALS: exploring gender-specific neuroimaging signaturesPeter Bede
Biomedical Sciences Institute, Trinity College Dublin, Dublin, Ireland
Amyotroph Lateral Scler Frontotemporal Degener 15:235-43. 2014..Given the significant pre- and post-morbid gender differences, we feel that ALS imaging studies should be controlled for gender or, alternatively, single gender studies should be considered...