Published in Hum Genet on August 01, 1986
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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39
Rapid induction of Alzheimer A beta amyloid formation by zinc. Science (1994) 5.34
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease. Nature (1988) 4.83
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature (1991) 4.77
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CAG repeat number governs the development rate of pathology in Huntington's disease. Ann Neurol (1997) 4.01
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Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet (1997) 3.83
Predictive testing for Huntington's disease with use of a linked DNA marker. N Engl J Med (1988) 3.82
A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res (1998) 3.77
Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet (1997) 3.64
The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science (1987) 3.59
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease. Am J Hum Genet (2000) 3.58
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Alcoholism susceptibility loci: confirmation studies in a replicate sample and further mapping. Alcohol Clin Exp Res (2000) 3.42
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma. Nature (1986) 3.40
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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet (2001) 3.27
The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem Sci (1998) 3.24
Evidence for genetic linkage of Alzheimer's disease to chromosome 10q. Science (2000) 3.16
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology (2012) 3.12
Localization of the Huntington's disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell (1987) 3.11
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A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group. Nat Genet (1996) 2.98
Inactivation of the mouse Huntington's disease gene homolog Hdh. Science (1995) 2.96
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Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet (1992) 2.85
Isolation of polymorphic DNA fragments from human chromosome 4. Nucleic Acids Res (1987) 2.83
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82
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Huntingtin interacts with a family of WW domain proteins. Hum Mol Genet (1998) 2.81
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Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet (2000) 2.67
Mice heterozygous for a mutation at the Nf2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev (1998) 2.66
Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65
Dinucleotide repeat polymorphisms at the D17S250 and D17S261 loci. Nucleic Acids Res (1990) 2.62
The A beta peptide of Alzheimer's disease directly produces hydrogen peroxide through metal ion reduction. Biochemistry (1999) 2.58
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Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J Clin Endocrinol Metab (2000) 2.52
Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet (1980) 2.51
The construction and analysis of epidemic trees with reference to the 2001 UK foot-and-mouth outbreak. Proc Biol Sci (2003) 2.49
Regional localization of DNA sequences on chromosome 21 using somatic cell hybrids. Am J Hum Genet (1986) 2.45
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45
Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nat Med (1996) 2.43
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet (1993) 2.42
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LDL receptor-related protein, a multifunctional ApoE receptor, binds secreted beta-amyloid precursor protein and mediates its degradation. Cell (1995) 2.37
Anticipation in Huntington's disease is inherited through the male line but may originate in the female. J Med Genet (1988) 2.37
Heterogeneous shedding of Escherichia coli O157 in cattle and its implications for control. Proc Natl Acad Sci U S A (2006) 2.37
Unstable DNA sequence in myotonic dystrophy. Lancet (1992) 2.36
Uptake of HIV-1 tat protein mediated by low-density lipoprotein receptor-related protein disrupts the neuronal metabolic balance of the receptor ligands. Nat Med (2000) 2.34