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
|