Published in Lancet on October 03, 1987
CAG expansion in the Huntington disease gene is associated with a specific and targetable predisposing haplogroup. Am J Hum Genet (2009) 1.78
HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia. Eur J Hum Genet (2011) 1.41
Covariate-dependent age-at-onset distributions for Huntington disease. Am J Hum Genet (1991) 0.93
Huntington disease in Finland: linkage disequilibrium of chromosome 4 RFLP haplotypes and exclusion of a tight linkage between the disease and D4S43 locus. Am J Hum Genet (1990) 0.86
CAG-Expansion Haplotype Analysis in a Population with a Low Prevalence of Huntington's Disease. J Clin Neurol (2014) 0.80
Huntington's like conditions in China, A review of published Chinese cases. PLoS Curr (2012) 0.77
Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review. BMJ Open (2016) 0.75
Functional rafts in cell membranes. Nature (1997) 38.89
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
How cells handle cholesterol. Science (2000) 5.56
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 3.78
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat Genet (2000) 3.39
A system for specific, high-throughput genotyping by allele-specific primer extension on microarrays. Genome Res (2000) 2.94
Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays. Genome Res (1997) 2.90
Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med (1990) 2.86
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology (2005) 2.77
Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science (2000) 2.66
An MDL method for finding haplotype blocks and for estimating the strength of haplotype block boundaries. Pac Symp Biocomput (2003) 2.45
Predisposition to familial osteoarthrosis linked to type II collagen gene. Lancet (1989) 2.43
Caveolin-1 and -2 in the exocytic pathway of MDCK cells. J Cell Biol (1998) 2.36
Copy number variations of chromosome 16p13.1 region associated with schizophrenia. Mol Psychiatry (2009) 2.29
Dual origins of Finns revealed by Y chromosome haplotype variation. Am J Hum Genet (1998) 2.21
A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet (1999) 2.15
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome. Nat Genet (1994) 2.08
Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry (2008) 2.07
Muscle-eye-brain disease (MEB) Brain Dev (1989) 2.00
Meta-analysis of genome-wide association studies for personality. Mol Psychiatry (2010) 1.96
Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet (2001) 1.95
Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland. Am J Hum Genet (2000) 1.93
A caveolin dominant negative mutant associates with lipid bodies and induces intracellular cholesterol imbalance. J Cell Biol (2001) 1.92
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Alternative splicing of human elastin mRNA indicated by sequence analysis of cloned genomic and complementary DNA. Proc Natl Acad Sci U S A (1987) 1.87
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein. Am J Hum Genet (2000) 1.87
Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland. Genomics (1992) 1.81
A putative vulnerability locus to multiple sclerosis maps to 5p14-p12 in a region syntenic to the murine locus Eae2. Nat Genet (1996) 1.81
Genetic susceptibility to multiple sclerosis linked to myelin basic protein gene. Lancet (1992) 1.79
Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet (2000) 1.77
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet (1999) 1.76
Quantitative-trait-locus analysis of body-mass index and of stature, by combined analysis of genome scans of five Finnish study groups. Am J Hum Genet (2001) 1.72
Internet addiction: a systematic review of epidemiological research for the last decade. Curr Pharm Des (2014) 1.70
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Celiac disease, brain atrophy, and dementia. Neurology (1991) 1.69
Dissecting the role of the golgi complex and lipid rafts in biosynthetic transport of cholesterol to the cell surface. Proc Natl Acad Sci U S A (2000) 1.67
Differences in DNA-fingerprints between remission and relapse in childhood acute lymphoblastic leukemia. Leuk Res (1988) 1.67
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet (1998) 1.67
Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes. J Dent Res (1996) 1.66
Serum complement and familial combined hyperlipidemia. Atherosclerosis (1997) 1.64
Basolateral protein transport in streptolysin O-permeabilized MDCK cells. J Cell Biol (1994) 1.64
Prevalence of severe dementia in Finland. Neurology (1985) 1.62
Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis. Genomics (1993) 1.61
Association of DISC1 with autism and Asperger syndrome. Mol Psychiatry (2007) 1.60
Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations. J Med Genet (2008) 1.59
Accuracy of clinical diagnosis in primary degenerative dementia: correlation with neuropathological findings. J Neurol Neurosurg Psychiatry (1983) 1.59
CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat Genet (1998) 1.58
Genomewide scan of multiple sclerosis in Finnish multiplex families. Am J Hum Genet (1997) 1.57
Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet (2001) 1.57
Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol (1995) 1.56
Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration. Spine (Phila Pa 1976) (1998) 1.56
Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet (1995) 1.55
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci U S A (1992) 1.54
An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet (1994) 1.53
MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features. Neurology (2001) 1.53
Diagnostic value of cerebrospinal fluid adenosine deaminase determination. Scand J Infect Dis (1991) 1.52
Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23. Nat Genet (1998) 1.52
Marfan Database (third edition): new mutations and new routines for the software. Nucleic Acids Res (1998) 1.49
Replication of 1q42 linkage in Finnish schizophrenia pedigrees. Mol Psychiatry (2004) 1.49
Congenital nephrotic syndrome of the Finnish type maps to the long arm of chromosome 19. Am J Hum Genet (1994) 1.47
DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry (2008) 1.47
The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA. Am J Hum Genet (1996) 1.46
Raised plasma endothelin during acute migraine attack. Cephalalgia (1992) 1.45
A haplotype within the DISC1 gene is associated with visual memory functions in families with a high density of schizophrenia. Mol Psychiatry (2005) 1.44
Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Brain Dev (1995) 1.44
Association between novelty seeking and the type 4 dopamine receptor gene in a large Finnish cohort sample. Am J Psychiatry (1999) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
Role of cholesterol in developing T-tubules: analogous mechanisms for T-tubule and caveolae biogenesis. Traffic (2000) 1.41
Expanding the range of ZNF804A variants conferring risk of psychosis. Mol Psychiatry (2010) 1.41
The OSBP-related protein family in humans. J Lipid Res (2001) 1.40
Progressive unilateral hypertrophic myopathy: a case study. Muscle Nerve (1993) 1.39
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders. Mol Psychiatry (2006) 1.39
Liver X receptor activation controls intracellular cholesterol trafficking and esterification in human macrophages. Circ Res (2005) 1.37
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. Hum Mol Genet (1998) 1.37
A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci U S A (1980) 1.36
Thermal stability of type I and type III procollagens from normal human fibroblasts and from a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A (1980) 1.36
A novel mutation of the fibrillin gene causing ectopia lentis. Genomics (1994) 1.36
An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet (1995) 1.36
Common candidate gene variants are associated with QT interval duration in the general population. J Intern Med (2009) 1.35
Genome scan for predisposing loci for distal interphalangeal joint osteoarthritis: evidence for a locus on 2q. Am J Hum Genet (1999) 1.35
Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus. Am J Hum Genet (1995) 1.34
Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease. EMBO J (1991) 1.33
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16. Genomics (1990) 1.30
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest (1992) 1.30
Studies on the clustering of multiple sclerosis in Finland I: Comparison between the domiciles and places of birth in selected subpopulations. Acta Neurol Scand (1975) 1.29
Gene deletions in X-linked muscular dystrophy. Am J Hum Genet (1989) 1.29
Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology (2001) 1.28
Demonstration of fibronectin in human cerebrospinal fluid. J Lab Clin Med (1978) 1.28