PubRank

S B Bressman

Author PubWeight™ 73.87‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997 5.39
2 Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985 3.56
3 Classification of dystonia. Adv Neurol 1998 2.75
4 Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology 2004 2.59
5 Functional brain networks in DYT1 dystonia. Ann Neurol 1998 2.14
6 Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol 1990 1.89
7 DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004 1.83
8 Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred. Am J Hum Genet 1991 1.77
9 Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999 1.67
10 Delayed-onset cerebellar syndrome. Arch Neurol 1996 1.65
11 Analysis of blink rate patterns in normal subjects. Mov Disord 1997 1.57
12 Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology 2011 1.57
13 Sensory abnormalities in unaffected relatives in familial adult-onset dystonia. Neurology 2005 1.53
14 Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron 1989 1.51
15 Delayed-onset dystonia due to perinatal or early childhood asphyxia. Neurology 1991 1.46
16 Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet 1992 1.46
17 Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology 2005 1.38
18 High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005 1.34
19 Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997 1.34
20 Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002 1.32
21 Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet 1990 1.31
22 Teaching tape for the motor section of the Toronto Western Spasmodic Torticollis Scale. Mov Disord 1997 1.23
23 Clinical findings of a myoclonus-dystonia family with two distinct mutations. Neurology 2002 1.20
24 Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001 1.18
25 Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002 1.17
26 Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012 1.17
27 Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004 1.15
28 Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007 1.12
29 Rapid-onset dystonia-parkinsonism in a second family. Neurology 1997 1.11
30 Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002 1.07
31 Gender differences in the risk of familial parkinsonism: beyond LRRK2? Neurosci Lett 2011 1.07
32 The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics 1999 1.05
33 Should levodopa therapy for Parkinsonism be started early or late? Evidence against early treatment. Can J Neurol Sci 1984 1.00
34 Sixty hertz pallidal deep brain stimulation for primary torsion dystonia. Neurology 2007 0.98
35 Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol 1999 0.96
36 Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology 2004 0.96
37 The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family. Adv Neurol 1998 0.93
38 A new screening tool for cervical dystonia. Neurology 2005 0.93
39 De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998 0.91
40 Use of intrathecal baclofen in the treatment of patients with dystonia. Arch Neurol 1996 0.91
41 Primary torsion dystonia: the search for genes is not over. J Neurol Neurosurg Psychiatry 1999 0.90
42 Speech dysfunction in early Parkinson's disease. Mov Disord 1995 0.89
43 Parkinsonism, dystonia, and hemiatrophy. Mov Disord 2000 0.89
44 Dominantly transmitted focal dystonia in families of patients with musician's cramp. Neurology 2006 0.89
45 Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab 2004 0.89
46 Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms. J Neurogenet 1986 0.88
47 Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis 2010 0.88
48 Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium. Genome Res 1997 0.87
49 Etiology of musician's dystonia: familial or environmental? Neurology 2009 0.84
50 The clinical manifestations of pontine hemorrhage. Neurology 1985 0.83
51 Analysis of the clinical course of non-Jewish, autosomal dominant torsion dystonia. Mov Disord 1986 0.80
52 The DYT1 mutation and nonfamilial primary torsion dystonia. Arch Neurol 2001 0.79
53 Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord 2012 0.78
54 A case of tetrabenazine-induced neuroleptic malignant syndrome after prolonged treatment. Mov Disord 1997 0.77
55 Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Rep 2014 0.76
56 Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease. Neurosci Lett 2011 0.75
57 Intrathecal baclofen in the treatment of dystonia. Adv Neurol 1998 0.75
58 Linkage studies in families with dystonia: linkage analysis as a tool to locate and characterize the gene(s) for dystonia. Adv Neurol 1988 0.75
59 Genetic linkage analysis in primary torsion dystonia. Neurology 1984 0.75