Published in Neurogenetics on March 25, 2006
Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat Rev Genet (2009) 2.31
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol (2013) 2.30
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet (2006) 2.00
Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet (2006) 1.92
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. J Neurol (2007) 1.02
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet (2004) 2.50
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet (2003) 1.92
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Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia. Neurogenetics (2001) 0.88
New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann Neurol (2005) 0.78
Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 17.95
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat Genet (2004) 7.45
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet (2009) 7.16
A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science (2005) 7.03
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet (2003) 5.34
Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet (2007) 5.09
No gene is an island: the flip-flop phenomenon. Am J Hum Genet (2007) 4.69
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature (2011) 4.56
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med (2013) 4.26
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet (2010) 4.26
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
dSarm/Sarm1 is required for activation of an injury-induced axon death pathway. Science (2012) 3.72
Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet (2009) 3.54
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet (2003) 3.39
Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am J Hum Genet (2008) 3.27
Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis. Hum Mol Genet (2006) 3.13
The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nat Med (2009) 3.05
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet (2002) 2.98
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet (2004) 2.97
Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol (2010) 2.91
Age at onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet (2002) 2.90
Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet (2006) 2.89
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nat Genet (2005) 2.79
A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia. Circulation (2008) 2.77
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain (2006) 2.77
Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study. Lancet Neurol (2006) 2.77
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet (2003) 2.71
Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet (2002) 2.70
Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come. Am J Hum Genet (2010) 2.64
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med (2009) 2.60
Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA (2005) 2.59
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet (2003) 2.58
Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions. Am J Hum Genet (2004) 2.58
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58
CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet (2005) 2.52
A high-density screen for linkage in multiple sclerosis. Am J Hum Genet (2005) 2.50
Exome sequencing of a multigenerational human pedigree. PLoS One (2009) 2.48
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
Hepatic gene expression profiles differentiate presymptomatic patients with mild versus severe nonalcoholic fatty liver disease. Hepatology (2013) 2.42
The role of the CD58 locus in multiple sclerosis. Proc Natl Acad Sci U S A (2009) 2.38
Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy. Am J Hum Genet (2011) 2.38
Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett (2004) 2.36
Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development (2004) 2.35
Meta-analysis of genome scans of age-related macular degeneration. Hum Mol Genet (2005) 2.34
KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet (2002) 2.28
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysis. Hum Mutat (2013) 2.23
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS Genet (2012) 2.23
A genome-wide association study of autism reveals a common novel risk locus at 5p14.1. Ann Hum Genet (2009) 2.15
SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics (2005) 2.14
Identification of MeCP2 mutations in a series of females with autistic disorder. Pediatr Neurol (2003) 2.14
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron (2013) 2.13
Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family. Ann Neurol (2011) 2.09
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk. Ann Neurol (2011) 2.01
Parkin mutations and susceptibility alleles in late-onset Parkinson's disease. Ann Neurol (2003) 2.01
Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet (2006) 2.00
A second major histocompatibility complex susceptibility locus for multiple sclerosis. Ann Neurol (2007) 1.99
Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Hum Mol Genet (2003) 1.98
Comprehensive search for Alzheimer disease susceptibility loci in the APOE region. Arch Neurol (2012) 1.97
Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R. Child Psychiatry Hum Dev (2003) 1.97
Serotonin-related gene polymorphisms and central nervous system serotonin function. Neuropsychopharmacology (2002) 1.96
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet (2010) 1.96
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet (2008) 1.95
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2. Brain (2013) 1.93
Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. Stroke (2011) 1.91
Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing. Hum Hered (2005) 1.86
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia. Nat Genet (2012) 1.85
Effects of environmental stress and gender on associations among symptoms of depression and the serotonin transporter gene linked polymorphic region (5-HTTLPR). Behav Genet (2007) 1.84
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss. PLoS One (2012) 1.83
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet (2007) 1.83
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genet (2010) 1.80
Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet (2012) 1.78
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology (2013) 1.78
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Brain (2008) 1.77
Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families. Am J Ophthalmol (2005) 1.73
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. Am J Hum Genet (2004) 1.71