Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

[1]  Y. Nagahama,et al.  Dementia with Lewy bodies presenting as frontotemporal dementia phenotype , 2019, Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society.

[2]  J. Trojanowski,et al.  Chronic traumatic encephalopathy is a common co-morbidity, but less frequent primary dementia in former soccer and rugby players , 2019, Acta Neuropathologica.

[3]  Sonja W. Scholz,et al.  A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity , 2019, Acta Neuropathologica.

[4]  J. Hodges,et al.  Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration , 2019, Neurology.

[5]  Ryan L. Collins,et al.  Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes , 2019, bioRxiv.

[6]  C. van Broeckhoven,et al.  Genotype–phenotype links in frontotemporal lobar degeneration , 2018, Nature Reviews Neurology.

[7]  Michelle K. Lupton,et al.  A comprehensive assessment of benign genetic variability for neurodegenerative disorders , 2018, bioRxiv.

[8]  Sonja W. Scholz,et al.  Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study , 2018, The Lancet Neurology.

[9]  Sonja W. Scholz,et al.  Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease , 2017, Neurobiology of Aging.

[10]  Jong Hun Kim,et al.  Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease , 2017, PLoS genetics.

[11]  M. Mesulam,et al.  TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics , 2017, Neuron.

[12]  Nick C Fox,et al.  Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease , 2017, Nature Genetics.

[13]  Alan J. Thomas,et al.  TDP‐43 pathology in Alzheimer's disease, dementia with Lewy bodies and ageing , 2017, Brain pathology.

[14]  J. Attems.  The multi-morbid old brain , 2017, Acta Neuropathologica.

[15]  James W Ironside,et al.  Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource , 2017, Genome research.

[16]  Robert A. Smith,et al.  Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients , 2016, Human Genomics.

[17]  D. MacArthur,et al.  Using high-resolution variant frequencies to empower clinical genome interpretation , 2016, Genetics in Medicine.

[18]  Hannah A. Pliner,et al.  TBK1 is associated with ALS and ALS-FTD in Sardinian patients , 2016, Neurobiology of Aging.

[19]  Michelle K. Lupton,et al.  Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases , 2016, Neurobiology of Aging.

[20]  J. O'Brien,et al.  Exome sequencing in dementia with Lewy bodies , 2016, Translational Psychiatry.

[21]  Elisabeth L. Moussaud-Lamodière,et al.  Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders , 2015, Neurology.

[22]  Ricardo Villamarín-Salomón,et al.  ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..

[23]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[24]  B. Borroni,et al.  Phenotypic Heterogeneity of Monogenic Frontotemporal Dementia , 2015, Front. Aging Neurosci..

[25]  W. M. van der Flier,et al.  Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies , 2014, Human molecular genetics.

[26]  J. Clarimón,et al.  Confluence of α-synuclein, tau, and β-amyloid pathologies in dementia with Lewy bodies. , 2013, Journal of neuropathology and experimental neurology.

[27]  Mauricio O. Carneiro,et al.  From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.

[28]  E. Boerwinkle,et al.  dbNSFP v2.0: A Database of Human Non‐synonymous SNVs and Their Functional Predictions and Annotations , 2013, Human mutation.

[29]  D. Morris,et al.  Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing , 2013, Journal of Medical Genetics.

[30]  M. Nalls,et al.  A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. , 2013, JAMA neurology.

[31]  Daniel Weintraub,et al.  APOE ε4 increases risk for dementia in pure synucleinopathies. , 2013, JAMA neurology.

[32]  G. Malerba,et al.  Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) , 2012, Journal of the Neurological Sciences.

[33]  Ole A. Andreassen,et al.  A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline , 2012, Nature.

[34]  Marc Cruts,et al.  Locus-Specific Mutation Databases for Neurodegenerative Brain Diseases , 2012, Human mutation.

[35]  Pablo Cingolani,et al.  © 2012 Landes Bioscience. Do not distribute. , 2022 .

[36]  P. Deyn,et al.  DLB and PDD: a role for mutations in dementia and Parkinson disease genes? , 2012, Neurobiology of Aging.

[37]  S. Mead,et al.  Prion protein gene M232R variation is probably an uncommon polymorphism rather than a pathogenic mutation. , 2012, Brain : a journal of neurology.

[38]  Jennifer Williamson,et al.  Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families , 2012, PloS one.

[39]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[40]  A. Morris,et al.  Data quality control in genetic case-control association studies , 2010, Nature Protocols.

[41]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[42]  H. Markus,et al.  Clinical Spectrum of CADASIL and the Effect of Cardiovascular Risk Factors on Phenotype: Study in 200 Consecutively Recruited Individuals , 2010, Stroke.

[43]  G. Schellenberg,et al.  The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. , 2010, Archives of neurology.

[44]  Claudia Manzoni,et al.  A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis , 2009, Science.

[45]  M. Viitanen,et al.  Congruence between NOTCH3 mutations and GOM in 131 CADASIL patients , 2009, Brain : a journal of neurology.

[46]  P. Stenson,et al.  The Human Gene Mutation Database: 2008 update , 2009, Genome Medicine.

[47]  H. Akiyama,et al.  Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies , 2009, Acta Neuropathologica.

[48]  H. Middelkoop,et al.  Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms , 2008, Journal of Neurology.

[49]  Alan F. Scott,et al.  McKusick's Online Mendelian Inheritance in Man (OMIM®) , 2008, Nucleic Acids Res..

[50]  Peter Heutink,et al.  Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia , 2008, The Lancet Neurology.

[51]  A. Rosso,et al.  Association Between Progranulin and β-Amyloid in Dementia With Lewy Bodies , 2008, American journal of Alzheimer's disease and other dementias.

[52]  B. Boeve,et al.  Frontotemporal Dementia Mimicking Dementia With Lewy Bodies , 2008, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

[53]  A. Kakita,et al.  Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia. , 2008, Archives of neurology.

[54]  Eric Guedj,et al.  Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. , 2008, Brain : a journal of neurology.

[55]  D. Geschwind,et al.  Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C→T (Arg493X) mutation: an international initiative , 2007, The Lancet Neurology.

[56]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[57]  G. Schellenberg,et al.  A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. , 2007, Brain : a journal of neurology.

[58]  Ji-Kang Park,et al.  Intracerebral hemorrhages in CADASIL , 2006, Neurology.

[59]  C. Duijn,et al.  Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 , 2006, Nature.

[60]  S. Melquist,et al.  Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17 , 2006, Nature.

[61]  S Minoshima,et al.  Diagnosis and management of dementia with Lewy bodies , 2005, Neurology.

[62]  A. Gozzini,et al.  Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family , 2005, Arthritis research & therapy.

[63]  J. Trojanowski,et al.  β-Synuclein gene alterations in dementia with Lewy bodies , 2004, Neurology.

[64]  Erdahl T. Teber,et al.  Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies , 2004, Journal of Neurology.

[65]  L. Hocking,et al.  Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[66]  Masanori Kato,et al.  Pathological entity of dementia with Lewy bodies and its differentiation from Alzheimer’s disease , 2004, Acta Neuropathologica.

[67]  J. Hoenicka,et al.  The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia , 2004, Annals of neurology.

[68]  Janel O. Johnson,et al.  α-Synuclein Locus Triplication Causes Parkinson's Disease , 2003, Science.

[69]  B. Seltzer,et al.  Familial Dementia with Lewy Bodies with an Atypical Clinical Presentation , 2003, Journal of geriatric psychiatry and neurology.

[70]  K. Sakai,et al.  A patient with dementia with Lewy bodies and codon 232 mutation of PRNP , 2002, Neurology.

[71]  A. Singleton,et al.  Clinical and Neuropathological Correlates of Apolipoprotein E Genotype in Dementia with Lewy Bodies , 2002, Dementia and Geriatric Cognitive Disorders.

[72]  J. Weissenbach,et al.  Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients , 1997, The Lancet.

[73]  S. Pickering-Brown,et al.  Apolipoprotein E4 and Alzheimer's disease pathology in Lewy body disease and in other β-amyloid-forming diseases , 1994, The Lancet.

[74]  A. Roses,et al.  Novel polymorphism in the A4 region of the amyloid precursor protein gene in a patient without Alzheimer's disease , 1993, Neurology.

[75]  D. T. Vernier,et al.  Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. , 1990, Journal of lipid research.

[76]  Hirotaka Sekiguchi,et al.  An autopsy case of dementia with Lewy bodies clinically diagnosed to have a behavioral variant of frontotemporal dementia. , 2017, Clinical neuropathology.

[77]  D. Mari,et al.  GRN Thr272fs clinical heterogeneity: a case with atypical late onset presenting with a dementia with Lewy bodies phenotype. , 2013, Journal of Alzheimer's disease : JAD.

[78]  J. Trojanowski,et al.  Beta-synuclein gene alterations in dementia with Lewy bodies. , 2004, Neurology.

[79]  A. Singleton,et al.  alpha-Synuclein locus triplication causes Parkinson's disease. , 2003, Science.

[80]  Hilde van der Togt,et al.  Publisher's Note , 2003, J. Netw. Comput. Appl..

[81]  M. Buchwald,et al.  A simple, rapid method for isolation of high quality genomic DNA from animal tissues. , 1995, Nucleic acids research.