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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1402-1404

2009

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Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Cerebellum (London, England), 2014-04, Vol.13 (2), p.269-302

2014

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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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Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

Journal of neurology, neurosurgery and psychiatry, 2008-12, Vol.79 (12), p.1327-1330

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

2004

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Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

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

2004

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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

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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Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

Journal of medical genetics, 2004-03, Vol.41 (3), p.230-232

2004

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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

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

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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Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

Journal of neurology, neurosurgery and psychiatry, 1999-02, Vol.66 (2), p.222-224

1999

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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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Stem Cell Quiescence in the Hippocampal Neurogenic Niche Is Associated With Elevated Transforming Growth Factor-β Signaling in an Animal Model of Huntington Disease

Journal of neuropathology and experimental neurology, 2010-07, Vol.69 (7), p.717-728

2010

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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

1999

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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

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

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

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

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

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington’s disease-like phenotype

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

Age related axonal neuropathy in spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD)

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

Stem Cell Quiescence in the Hippocampal Neurogenic Niche Is Associated With Elevated Transforming Growth Factor-β Signaling in an Animal Model of Huntington Disease

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

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