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Second consensus statement on the diagnosis of multiple system atrophy

Neurology, 2008-08, Vol.71 (9), p.670-676

2008

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Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

Journal of neurology, neurosurgery and psychiatry, 2009-08, Vol.80 (8), p.839-845

2009

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Trinucleotide repeats and neurodegenerative disease

Brain (London, England : 1878), 2004-11, Vol.127 (11), p.2385-2405

2004

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Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

Journal of medical genetics, 2005-11, Vol.42 (11), p.837-846

2005

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Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response

Cell death and differentiation, 2009-03, Vol.16 (3), p.449-464

2009

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Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease

Neurology, 2004-04, Vol.62 (7), p.1224-1226

2004

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Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

Neurology, 2001-06, Vol.56 (12), p.1702-1706

2001

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Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

Neurology, 2005-01, Vol.64 (1), p.134-136

2005

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Neurodegeneration

1st ed., 2017

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GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY

Neurology, 2009-03, Vol.72 (13), p.1185-1186

2009

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Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function

Cell death and differentiation, 2012-02, Vol.19 (2), p.257-266

2012

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The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

Brain (London, England : 1878), 2005-08, Vol.128 (8), p.1855-1860

2005

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The prevalence of progressive supranuclear palsy (Steele–Richardson–Olszewski syndrome) in the UK

Brain (London, England : 1878), 2001-07, Vol.124 (7), p.1438-1449

2001

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Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene

The New England journal of medicine, 2000-05, Vol.342 (21), p.1560-1567

2000

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Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data

Neurology, 2008-09, Vol.71 (13), p.1021-1026

2008

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Tau gene and Parkinson’s disease: a case–control study and meta-analysis

Journal of neurology, neurosurgery and psychiatry, 2004-07, Vol.75 (7), p.962-965

2004

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Brain (London, England : 1878), 1999-05, Vol.122 (5), p.817-825

1999

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A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe

Human molecular genetics, 1999-04, Vol.8 (4), p.567-574

1999

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Understanding the molecular causes of Parkinson's disease

Trends in molecular medicine, 2006-11, Vol.12 (11), p.521-528

2006

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Neuropathology of primary adult-onset dystonia

Neurology, 2008-02, Vol.70 (9), p.695-699

2008

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PINK1 (PARK6) associated Parkinson disease in Ireland

Neurology, 2004-10, Vol.63 (8), p.1486-1488

2004

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LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

Neuropathology and applied neurobiology, 2011-12, Vol.37 (7), p.777-790

2011

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Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

Journal of neurology, 2012-09, Vol.259 (9), p.1874-1878

2012

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Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP

Neurology, 2003-07, Vol.61 (1), p.102-104

2003

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Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

Annals of neurology, 2000-07, Vol.48 (1), p.72-76

2000

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Second consensus statement on the diagnosis of multiple system atrophy

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

Trinucleotide repeats and neurodegenerative disease

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response

Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation

Neurodegeneration

GLUCOCEREBROSIDASE MUTATIONS IN 108 NEUROPATHOLOGICALLY CONFIRMED CASES OF MULTIPLE SYSTEM ATROPHY

Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

The prevalence of progressive supranuclear palsy (Steele–Richardson–Olszewski syndrome) in the UK

Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene

Hyposmia in G2019S LRRK2-related parkinsonism: clinical and pathologic data

Tau gene and Parkinson’s disease: a case–control study and meta-analysis

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

A Wide Variety of Mutations in the Parkin Gene Are Responsible for Autosomal Recessive Parkinsonism in Europe

Understanding the molecular causes of Parkinson's disease

Neuropathology of primary adult-onset dystonia

PINK1 (PARK6) associated Parkinson disease in Ireland

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

Genetic screening of Greek patients with Huntington's disease phenocopies identifies an SCA8 expansion

Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP

Abnormal in vivo skeletal muscle energy metabolism in Huntington's disease and dentatorubropallidoluysian atrophy

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