PubRank

L J Ozelius

Author PubWeight™ 75.17‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A single nucleotide polymorphism in the matrix metalloproteinase-1 promoter creates an Ets binding site and augments transcription. Cancer Res 1998 3.77
2 Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987 3.60
3 Von Hippel-Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma. Nature 1988 3.27
4 Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology 2004 2.59
5 The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000 2.39
6 Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis. Science 1987 2.06
7 Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells. Hum Mol Genet 2000 1.90
8 DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004 1.83
9 Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999 1.67
10 Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology 2011 1.57
11 Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001 1.42
12 Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000 1.40
13 Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet 1993 1.36
14 High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005 1.34
15 The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews. Am J Hum Genet 1994 1.30
16 Rapid-onset dystonia-parkinsonism. Neurology 1993 1.26
17 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation. Neurology 2009 1.20
18 Dystonia in Ashkenazi Jews: clinical characterization of a founder mutation. Ann Neurol 1994 1.19
19 Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001 1.18
20 Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002 1.17
21 Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012 1.17
22 Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Ann Neurol 1998 1.16
23 Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology 2004 1.15
24 Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007 1.12
25 Distribution of the mRNAs encoding torsinA and torsinB in the normal adult human brain. Ann Neurol 1999 1.12
26 Myoclonus-dystonia: significance of large SGCE deletions. Hum Mutat 2008 1.10
27 Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002 1.07
28 Gender differences in the risk of familial parkinsonism: beyond LRRK2? Neurosci Lett 2011 1.07
29 A genetic linkage map of chromosome 17. Genomics 1990 1.05
30 A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study. Am J Pathol 2001 1.00
31 A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity. Neurology 1994 0.99
32 Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci U S A 1999 0.97
33 Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13. Ann Neurol 1999 0.96
34 The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001 0.93
35 Genetic analysis of three patients with an 18p- syndrome and dystonia. Neurology 1999 0.92
36 De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia. Hum Mol Genet 1998 0.91
37 Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families. Adv Neurol 1998 0.91
38 Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. Neurology 2006 0.91
39 Genetics of primary dystonia. Semin Neurol 1999 0.89
40 Genetic testing for early-onset torsion dystonia (DYT1): introduction of a simple screening method, experiences from testing of a large patient cohort, and ethical aspects. Genet Test 1999 0.89
41 Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1). Am J Hum Genet 1989 0.88
42 Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17. Genomics 1987 0.88
43 Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis 2010 0.88
44 Exon deletions in the GCHI gene in two of four Turkish families with dopa-responsive dystonia. Neurology 2002 0.87
45 Secondary dystonia and the DYTI gene. Neurology 1997 0.85
46 Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol 2000 0.84
47 The role of the DYT1 gene in secondary dystonia. Adv Neurol 1998 0.84
48 Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. Neurology 2004 0.84
49 Hereditary myoclonus-dystonia associated with epilepsy. Neurology 2003 0.83
50 Co-factor insufficiency in dystonia-parkinsonian syndrome. Nat Genet 1994 0.83
51 Genetic heterogeneity in ten families with myoclonus-dystonia. J Neurol Neurosurg Psychiatry 2004 0.82
52 The GAG deletion of the DYT1 gene is infrequent in musicians with focal dystonia. Neurology 2000 0.82
53 DNA linkage analysis in Von Recklinghausen neurofibromatosis. J Med Genet 1987 0.80
54 The DYT1 mutation and nonfamilial primary torsion dystonia. Arch Neurol 2001 0.79
55 Exclusion of familial dysautonomia from more than 60% of the genome. J Med Genet 1993 0.79
56 The role of mitochondrial DNA in Huntington's disease. J Mol Neurosci 1989 0.78
57 Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord 2012 0.78
58 The parkin gene is not involved in late-onset Parkinson's disease. Neurology 2002 0.78
59 Clinical-genetic spectrum of primary dystonia. Adv Neurol 1998 0.78
60 Haplotype analysis at the DYT1 locus in Ashkenazi Jewish patients with occupational hand dystonia. Mov Disord 1996 0.77
61 Search for a founder mutation in idiopathic focal dystonia from Northern Germany. Am J Hum Genet 1998 0.77
62 Genetic heterogeneity in rapid onset dystonia-parkinsonism: description of a new family. J Neurol Neurosurg Psychiatry 2005 0.76
63 Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Rep 2014 0.76
64 [Genetics of dystonia]. Nervenarzt 2000 0.75
65 Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol. Ann Neurol 1998 0.75
66 Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany. Ann Hum Genet 1999 0.75
67 Concordant late onset of craniocervical dystonia in a pair of monozygotic twins. Mov Disord 1999 0.75