Sensory abnormalities in unaffected relatives in familial adult-onset dystonia.

PubWeight™: 1.53‹?› | Rank: Top 4%

🔗 View Article (PMID 16186541)

Published in Neurology on September 27, 2005

Authors

J P O'Dwyer1, S O'Riordan, R Saunders-Pullman, S B Bressman, F Molloy, T Lynch, M Hutchinson

Author Affiliations

1: Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland.

Articles by these authors

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature (1998) 15.24

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet (1997) 5.39

Rate of pregnancy-related relapse in multiple sclerosis. Pregnancy in Multiple Sclerosis Group. N Engl J Med (1998) 4.65

HPV DNA testing in cervical cancer screening: results from women in a high-risk province of Costa Rica. JAMA (2000) 4.62

Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum Mol Genet (1999) 4.17

Population-based study of human papillomavirus infection and cervical neoplasia in rural Costa Rica. J Natl Cancer Inst (2000) 3.81

Is splenectomy another indication for Haemophilus influenzae type b vaccination? Lancet (1992) 3.70

Design and methods of a population-based natural history study of cervical neoplasia in a rural province of Costa Rica: the Guanacaste Project. Rev Panam Salud Publica (1997) 3.67

Validity and reliability of a rating scale for the primary torsion dystonias. Neurology (1985) 3.56

Differential diagnosis of suspected multiple sclerosis: a consensus approach. Mult Scler (2008) 3.28

Diagnostic guidelines in central nervous system Whipple's disease. Ann Neurol (1996) 2.86

Classification of dystonia. Adv Neurol (1998) 2.75

Increased risk for recurrent major depression in DYT1 dystonia mutation carriers. Neurology (2004) 2.59

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia. Hum Mol Genet (2000) 2.40

Controversy in primary care: Should asymptomatic haemochromatosis be treated? BMJ (2000) 2.36

Vaccination with irradiated autologous melanoma cells engineered to secrete human granulocyte-macrophage colony-stimulating factor generates potent antitumor immunity in patients with metastatic melanoma. Proc Natl Acad Sci U S A (1998) 2.29

The incidence and significance of anti-natalizumab antibodies: results from AFFIRM and SENTINEL. Neurology (2007) 2.17

Functional brain networks in DYT1 dystonia. Ann Neurol (1998) 2.14

The natural history of CADASIL: a pooled analysis of previously published cases. Stroke (1999) 2.14

Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody. Neurology (2008) 2.13

Assessment in the guinea-pig ileum and mouse vas deferens of benzomorphans which have strong antinociceptive activity but do not substitute for morphine in the dependent monkey. Br J Pharmacol (1975) 2.05

A qualitative study of patients' views on anxiety and depression. Br J Gen Pract (2001) 1.91

Dystonia gene in Ashkenazi Jewish population is located on chromosome 9q32-34. Ann Neurol (1990) 1.89

High serum 25-hydroxyvitamin D concentrations are associated with a favorable serum lipid profile. Eur J Clin Nutr (2010) 1.85

Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology (1998) 1.85

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology (2004) 1.83

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

Stopping beta-interferon therapy in multiple sclerosis: an analysis of stopping patterns. Mult Scler (2005) 1.75

Leukoencephalopathy and raised brain lactate from heroin vapor inhalation ("chasing the dragon") Neurology (1999) 1.70

Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. Ann Neurol (1999) 1.67

Delayed-onset cerebellar syndrome. Arch Neurol (1996) 1.65

Fragile X-associated tremor/ataxia syndrome presenting in a woman after chemotherapy. Neurology (2005) 1.63

Analysis of blink rate patterns in normal subjects. Mov Disord (1997) 1.57

Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology (2011) 1.57

MRI outcomes in a placebo-controlled trial of natalizumab in relapsing MS. Neurology (2007) 1.56

Pain and emotion: new research directions. J Clin Psychol (2001) 1.54

Multiple sclerosis prevalence in Ireland: relationship to vitamin D status and HLA genotype. J Neurol Neurosurg Psychiatry (2011) 1.52

HPV co-factors related to the development of cervical cancer: results from a population-based study in Costa Rica. Br J Cancer (2001) 1.52

Human gene for torsion dystonia located on chromosome 9q32-q34. Neuron (1989) 1.51

PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology (2004) 1.49

CADASIL in a North American family: clinical, pathologic, and radiologic findings. Neurology (1998) 1.47

A proposed modification to the McDonald 2010 criteria for the diagnosis of primary progressive multiple sclerosis. Mult Scler (2012) 1.47

Delayed-onset dystonia due to perinatal or early childhood asphyxia. Neurology (1991) 1.46

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews. Am J Hum Genet (1992) 1.46

Functional magnetic resonance imaging of human brain activity in a verbal fluency task. J Neurol Neurosurg Psychiatry (1998) 1.45

Autoimmune encephalopathy presenting as a 'posterior circulation stroke'. J Neurol (2010) 1.45

Natalizumab reduces visual loss in patients with relapsing multiple sclerosis. Neurology (2007) 1.45

OAS1: a multiple sclerosis susceptibility gene that influences disease severity. Neurology (2010) 1.45

Localization of disinhibition-dementia-parkinsonism-amyotrophy complex to 17q21-22. Am J Hum Genet (1994) 1.44

The 'hidden work' of a hospital neurologist: 1000 consults later. Eur J Neurol (2009) 1.44

Fatal toxic leukoencephalopathy: clinical, radiological, and necropsy findings in two patients. J Neurol Neurosurg Psychiatry (2005) 1.39

Letter from Dust Diseases Board of New South Wales. Examination of lungs for asbestosis and asbestosis bodies. Pathology (1994) 1.39

Decreased striatal D2 receptor binding in non-manifesting carriers of the DYT1 dystonia mutation. Neurology (2005) 1.38

Glial cytoplasmic inclusions in multiple system atrophy. Ann Neurol (1996) 1.37

High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology (2005) 1.34

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families. Ann Neurol (1997) 1.34

Serotonin syndrome. Neurology (1995) 1.33

Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology (2002) 1.32

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance. Am J Hum Genet (1990) 1.31

A clinical and laboratory study of benign multiple sclerosis. Q J Med (1986) 1.31

Hepatic folate in man. Br Med J (1966) 1.28

Confirming the validity and responsiveness of the Multiple Sclerosis Walking Scale-12 (MSWS-12). Neurology (2004) 1.25

Age-related cognitive decline in hereditary spastic paraparesis linked to chromosome 2p. Neurology (2000) 1.23

Teaching tape for the motor section of the Toronto Western Spasmodic Torticollis Scale. Mov Disord (1997) 1.23

Potential impact on survival of improved tumor downstaging and resection rate by preoperative twice-daily radiation and concurrent chemotherapy in stage IIIA non-small-cell lung cancer. J Clin Oncol (1997) 1.22

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy. Ann Neurol (2000) 1.22

Clinical findings of a myoclonus-dystonia family with two distinct mutations. Neurology (2002) 1.20

Association of the MAPT locus with Parkinson's disease. Eur J Neurol (2009) 1.19

Generalised muscular weakness after botulinum toxin injections for dystonia: a report of three cases. J Neurol Neurosurg Psychiatry (1999) 1.19

Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics (2001) 1.18

The multiple sclerosis impact scale (MSIS-29) is a reliable and sensitive measure. J Neurol Neurosurg Psychiatry (2004) 1.17

Folate deficiency enhances the development of colonic neoplasia in dimethylhydrazine-treated rats. Cancer Res (1992) 1.17

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology (2012) 1.17

Phenotypic features of myoclonus-dystonia in three kindreds. Neurology (2002) 1.17

Mutations in DYT1: extension of the phenotypic and mutational spectrum. Neurology (2004) 1.15

Assessing disability progression with the Multiple Sclerosis Functional Composite. Mult Scler (2009) 1.15

Reliability of patient completion of the historical section of the Unified Parkinson's Disease Rating Scale. Mov Disord (1996) 1.14

Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype. J Neurol (2011) 1.14

Diagnostic criteria for dystonia in DYT1 families. Neurology (2002) 1.12

Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. Neurology (2007) 1.12

Rapid-onset dystonia-parkinsonism in a second family. Neurology (1997) 1.11

Fine-scale spatial and temporal population genetics of Aedes japonicus, a new US mosquito, reveal multiple introductions. Mol Ecol (2010) 1.08

Loss of insight in frontotemporal dementia, corticobasal degeneration and progressive supranuclear palsy. Brain (2007) 1.08

How does the patient get to the general practitioner's surgery? J R Coll Gen Pract (1969) 1.07

Myoclonus dystonia: possible association with obsessive-compulsive disorder and alcohol dependence. Neurology (2002) 1.07

Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet (1996) 1.07

"Sixteen and a half": a novel pontine neuro-ophthalmological syndrome. J Neurol (2011) 1.07

Gender differences in the risk of familial parkinsonism: beyond LRRK2? Neurosci Lett (2011) 1.07

A multicentre, open, non-comparative phase II study of a combination of fludarabine phosphate, cytarabine and granulocyte colony-stimulating factor in relapsed and refractory acute myeloid leukaemia and de novo refractory anaemia with excess of blasts in transformation. Br J Haematol (2001) 1.06

Major depression, heart rate, and plasma norepinephrine in patients with coronary heart disease. Biol Psychiatry (1999) 1.05

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Genomics (1999) 1.05

Frequency of tau mutations in three series of non-Alzheimer's degenerative dementia. Ann Neurol (1999) 1.05