PubRank

L J Schut

Author PubWeight™ 24.96‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8) Nat Genet 1999 4.15
2 Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994 3.89
3 Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am J Hum Genet 1991 1.43
4 Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset. Am J Hum Genet 1994 1.38
5 Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 1984 1.22
6 SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance. Hum Mol Genet 2000 1.17
7 Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995 1.17
8 Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998 1.14
9 Spinocerebellar ataxia type 8: clinical features in a large family. Neurology 2000 1.10
10 Treatment of uncontrolled seizure activity with diazepam. JAMA 1968 1.07
11 The spectrum of imaging and neuropsychological findings in Pick's disease. Neurology 1989 1.07
12 Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology 1992 0.91
13 Clinician reliability and accuracy in judging appropriate level of care. J Consult Clin Psychol 1997 0.87
14 Validating quality indicators. Quality as relationship between structure, process, and outcome. Eval Rev 1997 0.81
15 Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus. Hum Genet 1991 0.77
16 The coexistence and differentiation of late onset Huntington's disease and Alzheimer's disease. A case report and review of the literature. J Am Geriatr Soc 1988 0.77
17 Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) kindreds. Am J Med Genet 1994 0.76
18 Comparison of expanded CAG repeat tracts in sperm and lymphocyte DNA from Machado Joseph disease and spinocerebellar ataxia type I patients. Hum Mutat 1998 0.75
19 Sensitivity study of H-reflex alterations in idiopathic low back pain patients vs. a healthy population. J Manipulative Physiol Ther 1991 0.75
20 Abnormal ocular motor function predicts clinical diagnosis of familial ataxia. Neurology 1987 0.75
21 Changes in vitamin E concentration in red blood cells and plasma of patients with olivopontocerebellar ataxia within the Schut-Swier kindred. J Am Coll Nutr 1987 0.75
22 Efficacy trial of heat-inactivated hepatitis B vaccine (CLB) in male homosexuals in the Netherlands. Dev Biol Stand 1983 0.75
23 Postscript: criteria for accepting a biochemical defect as primary. Adv Neurol 1978 0.75
24 Whether or not predictive tests? Neurology 1981 0.75