Published in Mov Disord on April 30, 2010
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. J Neurol (2015) 0.87
Disturbed calcium signaling in spinocerebellar ataxias and Alzheimer's disease. Semin Cell Dev Biol (2015) 0.82
Clinical features and classification of inherited ataxias. Adv Neurol (1993) 2.56
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16. J Med Genet (2007) 2.06
Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. Neurology (2008) 2.00
Molecular pathogenesis of spinocerebellar ataxias. Brain (2006) 1.59
A new autosomal dominant pure cerebellar ataxia. Neurology (2001) 1.06
"SCA16" is really SCA15. J Med Genet (2008) 0.92
Spinocerebellar ataxia type 15. Cerebellum (2005) 0.86
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet (2009) 15.15
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron (2004) 13.99
Genotype, haplotype and copy-number variation in worldwide human populations. Nature (2008) 12.40
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet (2011) 9.23
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet (2010) 8.74
Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol (2006) 7.32
Genotype-imputation accuracy across worldwide human populations. Am J Hum Genet (2009) 7.28
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol (2012) 5.18
A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet (2009) 5.01
A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet (2008) 4.75
Mutations in dynein link motor neuron degeneration to defects in retrograde transport. Science (2003) 4.40
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J Cell Biol (2007) 4.30
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet (2012) 4.27
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet (2005) 4.21
Species-specific transcription in mice carrying human chromosome 21. Science (2008) 4.03
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain (2009) 4.01
Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol (2009) 3.62
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. Science (2005) 3.61
Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science (2003) 3.59
SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol (2009) 3.55
Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun (2011) 3.23
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol (2008) 3.03
A common polymorphism in the brain-derived neurotrophic factor gene (BDNF) modulates human cortical plasticity and the response to rTMS. J Physiol (2008) 3.00
A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol (2007) 2.99
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet (2011) 2.97
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol (2010) 2.75
Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet (2011) 2.62
Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med (2012) 2.58
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS One (2010) 2.57
Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet (2010) 2.51
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation. Mov Disord (2010) 2.47
Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet (2006) 2.35
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol (2013) 2.32
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. Nat Genet (2009) 2.32
FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol (2010) 2.30
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry (2012) 2.20
The origins and uses of mouse outbred stocks. Nat Genet (2005) 2.19
Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke (2008) 2.19
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. Brain (2003) 2.17
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep (2011) 2.17
Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet (2011) 2.12
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet (2007) 2.09
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep (2012) 2.09
Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol (2009) 2.09
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet (2013) 2.09
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. Am J Hum Genet (2010) 2.08
A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Am J Hum Genet (2005) 2.04
CR1 is associated with amyloid plaque burden and age-related cognitive decline. Ann Neurol (2011) 2.02
Identical twins with Leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord (2012) 2.02
A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice. J Cell Biol (2005) 2.01
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem (2010) 1.93
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet (2009) 1.93
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol (2013) 1.90
Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol (2013) 1.88
Down syndrome--recent progress and future prospects. Hum Mol Genet (2009) 1.85
Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet (2011) 1.83
A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet (2013) 1.82
α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathol (2013) 1.75
Towards a complete resolution of the genetic architecture of disease. Trends Genet (2010) 1.75
Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). PLoS Genet (2011) 1.75
A novel α-synuclein missense mutation in Parkinson disease. Neurology (2013) 1.74
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Hum Mol Genet (2006) 1.73
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
Movement disorders in spinocerebellar ataxias. Mov Disord (2011) 1.72
The effect of survival bias on case-control genetic association studies of highly lethal diseases. Circ Cardiovasc Genet (2011) 1.71
Cytoplasmic dynein nomenclature. J Cell Biol (2005) 1.71
Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature (2010) 1.70
Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet (2012) 1.68
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol (2006) 1.66
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet (2011) 1.66
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. Proc Natl Acad Sci U S A (2009) 1.66
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol (2004) 1.63
Molecular pathogenesis of spinocerebellar ataxias. Brain (2006) 1.59
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet (2012) 1.58
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. Neurobiol Aging (2010) 1.56
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord (2010) 1.56