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Pathological Validation of the MDS Criteria for the Diagnosis of Multiple System Atrophy

Movement disorders, 2023-03, Vol.38 (3), p.444-452

2023

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Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Lancet neurology, 2021-02, Vol.20 (2), p.107-116

2021

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Plasma melatonin is reduced in Huntington's disease

Movement disorders, 2014-10, Vol.29 (12), p.1511-1515

2014

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Early presentation of urinary retention in multiple system atrophy: can the disease begin in the sacral spinal cord?

Journal of neurology, 2020-03, Vol.267 (3), p.659-664

2020

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Association between diabetes and subsequent Parkinson disease: A record-linkage cohort study

Neurology, 2018-07, Vol.91 (2), p.e139

2018

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Young‐onset multiple system atrophy: Clinical and pathological features

Movement disorders, 2018-07, Vol.33 (7), p.1099-1107

2018

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SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Brain (London, England : 1878), 2013, Vol.136 (Pt 1), p.294-303

2013

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Genetic and environmental factors in the cause of Parkinson's disease

Annals of neurology, 2003, Vol.53 (S3), p.S16-S25

2003

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What sample sizes for reliability and validity studies in neurology?

Journal of neurology, 2012-12, Vol.259 (12), p.2681-2694

2012

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Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study

Brain (London, England : 1878), 2022-03, Vol.145 (1), p.263-275

2022

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Hippocampal α-synuclein pathology correlates with memory impairment in multiple system atrophy

Brain (London, England : 1878), 2020-06, Vol.143 (6), p.1798-1810

2020

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The long-term outcome of impulsive compulsive behaviours in Parkinson’s disease

Journal of neurology, neurosurgery and psychiatry, 2019-11, Vol.90 (11), p.1288-1289

2019

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Iatrogenic B12-deficient peripheral neuropathy following nitrous oxide administration for functional tonic leg spasm: A case report

Clinical neurology and neurosurgery, 2017-09, Vol.160, p.108-110

2017

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SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Journal of neurology, 2014-12, Vol.261 (12), p.2296-2304

2014

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Impact of cervical dystonia on quality of life

Movement disorders, 2002-07, Vol.17 (4), p.838-841

2002

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A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

Brain (London, England : 1878), 2004-05, Vol.127 (5), p.973-980

2004

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Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ε-sarcoglycan gene

Movement disorders, 2007-06, Vol.22 (8), p.1173-1175

2007

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Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

Movement disorders, 2002-07, Vol.17 (4), p.717-725

2002

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A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

Neurogenetics, 2005-05, Vol.6 (2), p.79-84

2005

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Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

Movement disorders, 2003-09, Vol.18 (9), p.1047-1051

2003

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A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

Journal of neurology, 2004-09, Vol.251 (9), p.1068-1074

2004

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Three novel spastin ( SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

Journal of the neurological sciences, 2002-09, Vol.201 (1), p.65-69

2002

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Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia

Amyotrophic lateral sclerosis, 2011-03, Vol.12 (2), p.148-149

2011

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Dystonia: an update on genetics and treatment

Current opinion in neurology, 2001-08, Vol.14 (4), p.471-475

2001

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Elevated Baseline C-Reactive Protein as a Predictor of Outcome After Aneurysmal Subarachnoid Hemorrhage: Data From the Simvastatin in Aneurysmal Subarachnoid Hemorrhage (STASH) Trial

Neurosurgery, 2015-11, Vol.77 (5), p.786-793

2015

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Pathological Validation of the MDS Criteria for the Diagnosis of Multiple System Atrophy

Genetic determinants of survival in progressive supranuclear palsy: a genome-wide association study

Plasma melatonin is reduced in Huntington's disease

Early presentation of urinary retention in multiple system atrophy: can the disease begin in the sacral spinal cord?

Association between diabetes and subsequent Parkinson disease: A record-linkage cohort study

Young‐onset multiple system atrophy: Clinical and pathological features

SGCE mutations cause psychiatric disorders: clinical and genetic characterization

Genetic and environmental factors in the cause of Parkinson's disease

What sample sizes for reliability and validity studies in neurology?

Neuroimaging correlates of brain injury in Wilson's disease: a multimodal, whole-brain MRI study

Hippocampal α-synuclein pathology correlates with memory impairment in multiple system atrophy

The long-term outcome of impulsive compulsive behaviours in Parkinson’s disease

Iatrogenic B12-deficient peripheral neuropathy following nitrous oxide administration for functional tonic leg spasm: A case report

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Impact of cervical dystonia on quality of life

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia

Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the ε-sarcoglycan gene

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

Analysis of the ϵ-sarcoglycan gene in familial and sporadic myoclonus-dystonia: Evidence for genetic heterogeneity

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia

Three novel spastin ( SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia

Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia

Dystonia: an update on genetics and treatment

Elevated Baseline C-Reactive Protein as a Predictor of Outcome After Aneurysmal Subarachnoid Hemorrhage: Data From the Simvastatin in Aneurysmal Subarachnoid Hemorrhage (STASH) Trial

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