Research Topics
Genomes and Genes
Species | Coro Paisan-RuizSummaryAffiliation: University College London Country: UK Publications
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Detail Information
Publications
SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegiaC Paisan-Ruiz
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, 35 Lincoln Drive, Building 35, Room 1A1015, Bethesda, MD 20824, USA
Neurology 70:1384-9. 2008..Recently, the gene encoding spatacsin (KIAA1840) has been shown to contain mutations that underlie the majority of ARHSP-TCC cases...
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11)C Paisan-Ruiz
Department of Molecular Neuroscience, Institute of Neurology and The National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
Eur J Neurol 15:1065-70. 2008..Recently mutations on SPG11 gene (KIAA1840), which is localized to chromosome 15q13-q15, were shown to cause the majority of SPG11 cases...- LRRK2 gene variation and its contribution to Parkinson diseaseCoro Paisan-Ruiz
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, 9th Floor, Queen Square House, Queen Square, London WC1N 3BG, England
Hum Mutat 30:1153-60. 2009..Gene multiplications or deletions have not been reported so far. Here, all LRRK2 variants reported are interpreted and their contribution to the disease is examined... - Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorderCoro Paisan-Ruiz
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London, United Kingdom
Am J Med Genet B Neuropsychiatr Genet 150:993-7. 2009.... - Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controlsCoro Paisan-Ruiz
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Hum Mutat 29:485-90. 2008..These data and analysis of previously reported disease-segregating mutations shows that the majority of disease-causing mutations lie in the C-terminal half of the protein... 
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2Dena G Hernandez
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA
Ann Neurol 57:453-6. 2005....- Genome-wide association study reveals genetic risk underlying Parkinson's diseaseJavier Simon-Sanchez
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 41:1308-12. 2009..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease... - DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRASarah Camargos
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
Lancet Neurol 7:207-15. 2008..Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations that underlie these diseases may help to shed light on the aetiological processes involved... - Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutationJanel Johnson
Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA
Neurodegener Dis 4:386-91. 2007..Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism... - Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutationsCoro Paisan-Ruiz
Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
Neurobiol Aging 33:814-23. 2012..Later onset cases tended to have less tau involvement but still severe alpha-synuclein pathology. The clinical and neuropathological features clearly represent a link between PLA2G6 and parkinsonian disorders... - Characterization of PLA2G6 as a locus for dystonia-parkinsonismCoro Paisan-Ruiz
Laboratory of Neurogenetics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA
Ann Neurol 65:19-23. 2009..Although many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder... - Parkinson's disease and low frequency alleles found together throughout LRRK2Coro Paisan-Ruiz
Molecular Neuroscience Department and Reta Lila Weston Laboratories, UCL Institute of Neurology, Queen Square, London, England
Ann Hum Genet 73:391-403. 2009..We conclude that certain low frequency alleles distributed throughout LRRK2 are a genetic background to a third of cases, defining a distinct subset... - Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutationsCoro Paisan-Ruiz
Department of Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom
Mov Disord 25:1791-800. 2010..These data suggest that these four genes account for many cases of Levodopa responsive parkinsonism with pyramidal signs cases formerly categorized clinically as pallido-pyramidal syndrome... - ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulationSusanne A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, United Kingdom
Mov Disord 25:979-84. 2010..KRD should be considered in patients with dystonia-parkinsonism with iron on brain imaging and we suggest classifying as NBIA type 3... - Complete screening for glucocerebrosidase mutations in Parkinson disease patients from PortugalJose Bras
Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA
Neurobiol Aging 30:1515-7. 2009..These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease... - SNCA variants are associated with increased risk for multiple system atrophySonja W Scholz
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
Ann Neurol 65:610-4. 2009..SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 x 10(-12); odds ratio 6.2) [corrected]... - The genetics of Parkinson's syndromes: a critical reviewJohn Hardy
Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, England, UK
Curr Opin Genet Dev 19:254-65. 2009.... - Measures of autozygosity in decline: globalization, urbanization, and its implications for medical geneticsMichael A Nalls
Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America
PLoS Genet 5:e1000415. 2009..Autozygosity has declined, and it seems it will continue doing so... - GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesiasSusanne A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, United Kingdom
Mov Disord 24:1684-8. 2009..Brain MRI showed cerebellar atrophy in one case. Mutations in GLUT1 are one cause of apparently sporadic PED. The detection of this has important implications for treatment as ketogenic diet has been reported to be beneficial... - Common pathogenic pathways in melanoma and Parkinson diseaseCoro Paisan-Ruiz
Molecular Neuroscience Department, UCL Institute of Neurology, University College London, Queen Square, London, UK
Neurology 75:1653-5. 2010..A striking overlap is observed in the tyrosine and L-dopa biosynthetic pathways suggesting a common disease mechanism associated with these 2 heterogeneous disorders that warrants further investigation... - Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneityArianna Tucci
Department of Molecular Neuroscience, Reta Lila Weston Research Laboratories and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK
Hum Mutat 34:296-300. 2013..The other families, mostly presenting with additional atypical features, were negative for ROGDI mutations, suggesting genetic heterogeneity of atypical forms of the disease... - Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11Sanjeev Rajakulendran
Department of Molecular Neurosciences and MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK
J Clin Neurol 7:102-4. 2011..Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature... - LRRK2 gene in Parkinson disease: mutation analysis and case control association studyC Paisan-Ruiz
National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, MD, USA
Neurology 65:696-700. 2005....