Research Topics
Genomes and GenesSpecies | Huw R MorrisSummaryAffiliation: Cardiff University Country: UK Publications
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Publications
Recent advances in the genetics of the ALS-FTLD complexHuw R Morris
MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff CF14 4XN, UK
Curr Neurol Neurosci Rep 12:243-50. 2012..The identification of mutations in these genes represents an important step forward in our understanding of the clinical, pathological, and genetic spectrum of ALS/FTLD diseases...
Genetics of Parkinson's diseaseHuw R Morris
Department of Neurology, Ophthalmology and Audiological Medicine, School of Medicine, Cardiff University, Cardiff, UK
Ann Med 37:86-96. 2005....
Autosomal dominant Parkinson's disease and the route to new therapiesHuw R Morris
School of Medicine, Cardiff University, CF14 4XN, Wales
Expert Rev Neurother 7:649-56. 2007..The further study and understanding of the route by which alpha-synuclein and LRRK2 lead to PD, and how these processes can be therapeutically manipulated, is likely to lead to new disease-modifying treatments...
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's diseaseLaura L Kilarski
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Neurology, School of Medicine, Cardiff University, Cardiff, United Kingdom
Mov Disord 27:1522-9. 2012..The overall frequency of mutations in known EOPD genes was lower than previously estimated. Our study shows an increased likelihood of mutations in patients with lower AAO, family history, or parental consanguinity...
SGCE mutations cause psychiatric disorders: clinical and genetic characterizationKathryn J Peall
MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Henry Wellcome Building, Heath Park, Cardiff, UK
Brain 136:294-303. 2013..SGCE mutations are likely to have a pleiotropic effect in causing both motor and specific psychiatric symptoms...
The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based studyMark Wardle
Dept of Neurology, Ophthalmology and Audiological Medicine, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK
J Neurol 256:343-8. 2009..Furthermore, there is marked geographic and ethnic variation in the relative importance of these individual disorders and the cause of such observed variation remains unexplained...
Quality of life in young- compared with late-onset Parkinson's diseaseM Duleeka W Knipe
Department of Neurology, School of Medicine, Cardiff University, Cardiff, United Kingdom
Mov Disord 26:2011-8. 2011..001, respectively), with similar findings seen in both early- and late-onset groups. Our study highlights the need for accurate diagnosis and treatment of depression in younger-onset patients in order to improve quality of life...
The motor phenotype of Parkinson's disease in relation to age at onsetMirdhu M Wickremaratchi
Department of Neurology, School of Medicine, Cardiff University, Cardiff, United Kingdom
Mov Disord 26:457-63. 2011..Parkinson's disease (PD) is heterogeneous and age at onset may define variation in clinical phenotype. Most previous studies have used various age cut-offs and have been based on clinical case series...
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9pJustin P Pearson
MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, CF14 4XN, UK
J Neurol 258:647-55. 2011..Sequencing of this region did not identify any evidence of a pathogenic exonic mutation. This suggests that the pathogenic change affects non-coding DNA and that the disease is caused by variation in gene or protein expression...
The effect of age and the H1c MAPT haplotype on MAPT expression in human brainJesse B G Hayesmoore
Neuropsychiatric Genetics Group, Cardiff University School of Medicine, Cardiff, UK
Neurobiol Aging 30:1652-6. 2009..We did, however, detect an effect of age on expression of MAPT H1 with a relative decrease in MAPT H1 expression with increased age. Our data suggest that there is an interaction between age and the expression of MAPT...
Variation in tau isoform expression in different brain regions and disease statesElisa Majounie
MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
Neurobiol Aging 34:1922.e7-1922.e12. 2013..4R-tau expression levels were related to the MAPT H1 and H1c haplotypes. Similar regional variation was seen in PSP case and in control samples...
Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic reviewKathryn J Peall
MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, Cardiff, United Kingdom
Mov Disord 26:1939-42. 2011..Mutations in the maternally imprinted epsilon-sarcoglycan gene occur in 30%-50% of myoclonus-dystonia cases. Psychiatric symptoms, particularly obsessive-compulsive disorder, have been described in some patients...
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failureVictoria Newsway
MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, United Kingdom
Mov Disord 25:767-70. 2010..The family was initially thought to have autosomal dominant behavioral variant frontotemporal dementia with Parkinsonism. This report expands the clinical definition of this distinctive syndrome...
Clinical and genetic characteristics of non-Asian dentatorubral-pallidoluysian atrophy: A systematic reviewMark Wardle
Department of Neurology, Ophthalmology and Audiological Medicine, Cardiff University, United Kingdom
Mov Disord 24:1636-40. 2009..Non-Asian DRPLA clinico-genetic phenomenology are similar to Asian series and our study confirms marked genetic anticipation together with a clear association between repeat length and clinical phenotype and disease severity...
Analysis of copy number variation using quantitative interspecies competitive PCRNigel M Williams
Department of Psychological Medicine, Wales School of Medicine, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
Nucleic Acids Res 36:e112. 2008....
Aripiprazole associated with severe exacerbation of Parkinson's diseaseMirdhu Wickremaratchi
Mov Disord 21:1538-9. 2006
