D Raymond

Author PubWeight™ 38.81‹?›

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 The DYT1 phenotype and guidelines for diagnostic testing. Neurology 2000 2.39
3 Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol 1999 1.67
4 Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology 2011 1.57
5 Regional metabolism in primary torsion dystonia: effects of penetrance and genotype. Neurology 2004 1.46
6 High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology 2005 1.34
7 Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol 1997 1.34
8 Abnormal striatal and thalamic dopamine neurotransmission: Genotype-related features of dystonia. Neurology 2009 1.18
9 Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012 1.17
10 Phenotypic features of myoclonus-dystonia in three kindreds. Neurology 2002 1.17
11 Diagnostic criteria for dystonia in DYT1 families. Neurology 2002 1.12
12 Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology 2007 1.12
13 Endoscopic and symptomatic assessment of anastomotic strictures following esophagectomy and cervical esophagogastrostomy. Surg Endosc 2007 1.07
14 Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology 2002 1.07
15 Gender differences in the risk of familial parkinsonism: beyond LRRK2? Neurosci Lett 2011 1.07
16 Age at onset as a factor in determining the phenotype of primary torsion dystonia. Neurology 2004 0.96
17 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
18 A new screening tool for cervical dystonia. Neurology 2005 0.93
19 Exclusion of the DYT1 locus in familial torticollis. Ann Neurol 1996 0.93
20 Leukocytosis in children with Escherichia coli O157:H7 enteritis developing the hemolytic-uremic syndrome. Pediatr Infect Dis J 2000 0.92
21 Phenylalanine loading as a diagnostic test for DRD: interpreting the utility of the test. Mol Genet Metab 2004 0.89
22 Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia. Neurobiol Dis 2010 0.88
23 A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. Am J Hum Genet 2000 0.86
24 Secondary dystonia and the DYTI gene. Neurology 1997 0.85
25 Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. Ann Neurol 2000 0.84
26 The role of the DYT1 gene in secondary dystonia. Adv Neurol 1998 0.84
27 Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity. Clin Chim Acta 1993 0.83
28 Transcranial sonography and functional imaging in glucocerebrosidase mutation Parkinson disease. Parkinsonism Relat Disord 2012 0.78
29 Clinical-genetic spectrum of primary dystonia. Adv Neurol 1998 0.78
30 Spinal injuries in Canadian ice hockey: documentation of injuries sustained from 1943-1999. Can J Neurol Sci 2004 0.77
31 Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease. JIMD Rep 2014 0.76
32 Gender differences in the IL6 -174G>C and ESR2 1730G>A polymorphisms and the risk of Parkinson's disease. Neurosci Lett 2011 0.75
33 [45,X/ 46,XX/ 46,XY Mosaic with female phenotype]. Bull Assoc Anat (Nancy) 1976 0.75
34 Health education leaders see colorless future. Mod Healthc 1989 0.75
35 Department review: a PSRO approach from the hospital's perspective. QRB Qual Rev Bull 1980 0.75
36 New, competitive reimbursement systems put health care cost, use decisions at local level. Mich Med 1981 0.75
37 Does massage decrease laryngeal tension in a subject with complete tetraplegia. Percept Mot Skills 1997 0.75
38 Cognitive and psychodynamic correlates of depressive symptomatology. Psychol Rep 1996 0.75
39 1990 benefits survey. Mod Healthc 1990 0.75
40 Departmental review: identification and analysis of problems in diagnostic radiology. QRB Qual Rev Bull 1980 0.75
41 Benefits survey. Staff shortages influence benefits plans. Mod Healthc 1989 0.75