Search Results - "Vlaar, Annemarie M."
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A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Published in American journal of human genetics (13-05-2011)“…The progressive myoclonus epilepsies (PMEs) are a group of predominantly recessive disorders that present with action myoclonus, tonic-clonic seizures, and…”
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Meta-analysis of the literature on diagnostic accuracy of SPECT in parkinsonian syndromes
Published in BMC neurology (01-09-2007)“…Parkinson's disease (PD) is the second most common neurodegenerative disorder. One of the most widely used techniques to diagnose PD is a Single Photon…”
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Transcranial duplex in the differential diagnosis of parkinsonian syndromes: A systematic review
Published in Journal of neurology (01-04-2009)“…Background Transcranial duplex scanning (TCD) of the substantia nigra (SN) is increasingly used to diagnose Idiopathic Parkinson’s Disease (IPD). Up until now…”
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Clinical Pain and Neuropsychological Functioning in Parkinson's Disease: Are They Related?
Published in Parkinson's disease (01-01-2016)“…Introduction. Pain is an important nonmotor symptom of Parkinson’s disease (PD). Brain areas such as the hippocampus and the prefrontal cortex play an…”
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Seeing ophthalmologic problems in Parkinson disease: Results of a visual impairment questionnaire
Published in Neurology (07-04-2020)“…OBJECTIVETo determine the prevalence and clinical effect of ophthalmologic symptoms in patients with Parkinson disease (PD), compared with controls, using a…”
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Need for prolonged immunosupressive therapy in CLIPPERS--a case report
Published in BMC neurology (24-05-2013)“…Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) was first described in 2010 by Pittock and colleagues…”
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The predictive value of transcranial duplex sonography for the clinical diagnosis in undiagnosed parkinsonian syndromes: comparison with SPECT scans
Published in BMC neurology (09-11-2008)“…Transcranial duplex sonography (TCD) of the substantia nigra has emerged as a promising, non-invasive tool to diagnose idiopathic Parkinson's disease (IPD)…”
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Posterior reversible encephalopathy syndrome in paediatric leukaemia
Published in European journal of paediatric neurology (01-11-2010)“…Abstract This report describes four patients with acute lymphoblastic leukaemia, suffering from posterior reversible encephalopathy syndrome during the…”
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Transcranial sonography for the discrimination of idiopathic Parkinson's disease from the atypical parkinsonian syndromes
Published in International review of neurobiology (2010)“…We reviewed eight studies on transcranial sonography (TCS) as a tool for differentiating idiopathic Parkinson's disease (IPD) from atypical parkinsonian…”
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10
Diplopia in Parkinson’s disease: visual illusion or oculomotor impairment?
Published in Journal of neurology (01-10-2019)“…Introduction Approximately 20% of patients with Parkinson’s disease (PD) experience diplopia; however, the cause of the diplopia is unclear. We aimed to…”
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In vivo exploration of retinal nerve fiber layer morphology in Parkinson’s disease patients
Published in Journal of Neural Transmission (01-06-2018)“…Thinning of the retinal nerve fiber layer (RNFL) is a recently discovered feature of Parkinson’s disease (PD). Its exact pathological mechanism is yet unknown…”
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Specificity and sensitivity of transcranial sonography of the substantia nigra in the diagnosis of Parkinson's disease: prospective cohort study in 196 patients
Published in BMJ open (01-01-2013)“…Objective Numerous ultrasound studies have suggested that a typical enlarged area of echogenicity in the substantia nigra (SN+) can help diagnose idiopathic…”
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'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation
Published in Brain (London, England : 1878) (01-04-2013)“…We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define…”
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14
Reader response: Symptom burden among individuals with Parkinson disease: A national survey
Published in Neurology. Clinical practice (01-04-2020)Get full text
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Protocol of a prospective study on the diagnostic value of transcranial duplex scanning of the substantia nigra in patients with parkinsonian symptoms
Published in BMC neurology (04-09-2007)“…Parkinson's disease (PD) is the second most common neurodegenerative disorder. As there is no definitive diagnostic test, its diagnosis is based on clinical…”
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Role of DAT-SPECT in diagnostic work-up of Parkinsonism
Published in Movement disorders (15-04-2008)Get full text
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Diagnostic value of 123I-ioflupane and 123I-iodobenzamide SPECT scans in 248 patients with parkinsonian syndromes
Published in European neurology (2008)“…SPECT is one of the most employed techniques in the diagnostic workup of idiopathic Parkinson's disease (IPD). Despite its widespread use, the exact diagnostic…”
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18
Transcranial duplex in the differential diagnosis of parkinsonian syndromes
Published in Journal of neurology (01-04-2009)“…Background : Transcranial duplex scanning (TCD) of the substantia nigra (SN) is increasingly used to diagnose Idiopathic Parkinson's Disease (IPD). Up until…”
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Journal Article