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Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Neurobiology of disease, 2007-08, Vol.27 (2), p.190-206

2007

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RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player

Neurogenetics, 2008-05, Vol.9 (2), p.83-94

2008

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The aetiology of sporadic adult-onset ataxia

Brain (London, England : 1878), 2002-05, Vol.125 (5), p.961-968

2002

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

Neurology, 2004-02, Vol.62 (3), p.389-394

2004

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Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

Neurology, 2004-11, Vol.63 (10), p.1912-1917

2004

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Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S298

2015

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NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S299

2015

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3.309 THE GUANINE NUCLEOTIDE EXCHANGE FACTOR KALIRIN-7 IS A NOVEL SYNPHILIN-1 INTERACTING PROTEIN

Parkinsonism & related disorders, 2012, Vol.18, p.S221-S221

2012

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Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Neurology, 1998-12, Vol.51 (6), p.1603-1607

1998

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Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

Neurobiology of disease, 2010-05, Vol.38 (2), p.192-200

2010

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The natural history of degenerative ataxia : a retrospective study in 466 patients

Brain (London, England : 1878), 1998-04, Vol.121 (4), p.589-600

1998

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Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

American journal of human genetics, 2001-02, Vol.68 (2), p.523-528

2001

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Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers

Neurology, 2001-05, Vol.56 (10), p.1355-1362

2001

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Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease

Neurology, 2004-04, Vol.62 (7), p.1231-1232

2004

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3.002 PD: Genetics

Parkinsonism & related disorders, 2007, Vol.13, p.S147-S147

2007

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3.062 ATAXIN-2 INTERMEDIATE POLYGLUTAMINE EXPANSIONS CONTRIBUTE TO RISK OF ALS AND OF EARLY ONSET HEREDITARY PD

Parkinsonism & related disorders, 2012, Vol.18, p.S184-S184

2012

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Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity

Journal of Neural Transmission, 2008-07, Vol.115 (7), p.941-958

2008

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Polymorphisms of the α-synuclein promoter: expression analyses and association studies in Parkinson's disease

Journal of Neural Transmission, 2003, Vol.110 (1), p.67-76

2003

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Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)

Annals of neurology, 2003-09, Vol.54 (3), p.367-375

2003

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Genetic influence on the development of Parkinson's disease

Journal of neurology, 2000-04, Vol.247 Suppl 2 (S2), p.II69-II74

2000

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DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Neurology, 1999-09, Vol.53 (4), p.801-801

1999

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Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6

Neurology, 1997-09, Vol.49 (3), p.842-847

1997

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2.304 Neuropathology of conditional alpha-synuclein transgenic mouse models of Parkinson's disease

Parkinsonism & related disorders, 2007, Vol.13, p.S122-S122

2007

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2.018 Neuropathology of conditional alpha-synuclein transgenic mouse models of Parkinson's disease

Parkinsonism & related disorders, 2007, Vol.13, p.S90-S90

2007

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Overexpression of human wildtype torsinA and human ΔGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player

The aetiology of sporadic adult-onset ataxia

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

Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

3.309 THE GUANINE NUCLEOTIDE EXCHANGE FACTOR KALIRIN-7 IS A NOVEL SYNPHILIN-1 INTERACTING PROTEIN

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

The natural history of degenerative ataxia : a retrospective study in 466 patients

Ancestral Origins of the Machado-Joseph Disease Mutation: A Worldwide Haplotype Study

Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers

Extended mutation analysis and association studies of Nurr1 (NR4A2) in Parkinson disease

3.002 PD: Genetics

3.062 ATAXIN-2 INTERMEDIATE POLYGLUTAMINE EXPANSIONS CONTRIBUTE TO RISK OF ALS AND OF EARLY ONSET HEREDITARY PD

Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity

Acute Cerebrovascular Disease in the Young: The Stroke in Young Fabry Patients Study

Polymorphisms of the α-synuclein promoter: expression analyses and association studies in Parkinson's disease

Clinical features and neuropathology of autosomal dominant spinocerebellar ataxia (SCA17)

Genetic influence on the development of Parkinson's disease

DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6

2.304 Neuropathology of conditional alpha-synuclein transgenic mouse models of Parkinson's disease

2.018 Neuropathology of conditional alpha-synuclein transgenic mouse models of Parkinson's disease

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