J R Murrell

Author PubWeight™ 44.16‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993 6.29
2 Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. Proc Natl Acad Sci U S A 1998 6.13
3 Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nat Genet 1994 2.33
4 Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. Proc Natl Acad Sci U S A 1997 1.89
5 Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17. Proc Natl Acad Sci U S A 1999 1.73
6 A novel member of the netrin family, beta-netrin, shares homology with the beta chain of laminin: identification, expression, and functional characterization. J Cell Biol 2000 1.59
7 Characterization of flavonol synthase and leucoanthocyanidin dioxygenase genes in Arabidopsis. Further evidence for differential regulation of "early" and "late" genes. Plant Physiol 1997 1.49
8 Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J Neuropathol Exp Neurol 1999 1.49
9 Use of anticholinergics and the risk of cognitive impairment in an African American population. Neurology 2010 1.46
10 A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 1993 1.38
11 Tau pathology in a family with dementia and a P301L mutation in tau. J Neuropathol Exp Neurol 1999 1.38
12 Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. Neurology 2007 1.11
13 Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy. J Neuropathol Exp Neurol 2000 1.08
14 A new mutant transthyretin (Arg 10) associated with familial amyloid polyneuropathy. J Med Genet 1992 1.07
15 Tertiary structure of an amyloid immunoglobulin light chain protein: a proposed model for amyloid fibril formation. Proc Natl Acad Sci U S A 1995 1.03
16 Phenotypic variability in three families with valosin-containing protein mutation. Eur J Neurol 2012 0.94
17 Tertiary structures of amyloidogenic and non-amyloidogenic transthyretin variants: new model for amyloid fibril formation. Amyloid 1998 0.93
18 Thyroxine interactions with transthyretin: a comparison of 10 different naturally occurring human transthyretin variants. J Clin Endocrinol Metab 1993 0.92
19 The Ile-84-->Ser amino acid substitution in transthyretin interferes with the interaction with plasma retinol-binding protein. J Biol Chem 1994 0.91
20 Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease. Neuropathol Appl Neurobiol 2006 0.90
21 A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol 1999 0.89
22 Biochemical characterization of a neuroserpin variant associated with hereditary dementia. Am J Pathol 2001 0.87
23 Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology 2002 0.87
24 X-ray crystal structure of the Ala-109-->Thr variant of human transthyretin which produces euthyroid hyperthyroxinemia. J Biol Chem 1993 0.86
25 Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures. J Neuropathol Exp Neurol 2001 0.86
26 Hypertension and incident dementia in community-dwelling elderly Yoruba Nigerians. Acta Neurol Scand 2011 0.83
27 Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndrome. Ann N Y Acad Sci 2000 0.81
28 Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated with the TAU G389R mutation. Arch Ital Biol 2005 0.79
29 An expression-independent catalog of genes from human chromosome 22. Genome Res 1995 0.78
30 Presymptomatic Genetic Testing with an APP Mutation in Early-Onset Alzheimer Disease: A Descriptive Study of Sibship Dynamics. J Genet Couns 2000 0.76
31 Metabolism of amyloid proteins. Ciba Found Symp 1996 0.76
32 Threonine for alanine substitution at position 109 of transthyretin differentially alters human transthyretin's affinity for iodothyronines. Endocrinology 1994 0.75
33 [Neurodegenerative disease associated with a mutation of codon 279 (N279K) in exon 10 of Tau protein]. Bull Acad Natl Med 2000 0.75