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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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Impaired olfactory bulb neurogenesis depends on the presence of human wild-type alpha-synuclein

Neuroscience, 2012-10, Vol.222, p.343-355

2012

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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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Metabolic and Type 1 cannabinoid receptor imaging of a transgenic rat model in the early phase of Huntington disease

Experimental neurology, 2011-06, Vol.229 (2), p.440-449

2011

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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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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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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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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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Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6

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

1997

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Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

Journal of neurology, neurosurgery and psychiatry, 2010-11, Vol.81 (11), p.1229-1232

2010

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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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Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families

Neurology, 1999-03, Vol.52 (4), p.849

1999

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Practical importance of neuroprotection in Parkinson's disease

Journal of neurology, 2002-10, Vol.249 Suppl 3, p.III/53-1

2002

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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)

Impaired olfactory bulb neurogenesis depends on the presence of human wild-type alpha-synuclein

Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

Metabolic and Type 1 cannabinoid receptor imaging of a transgenic rat model in the early phase of Huntington 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

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

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

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

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

Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds

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

Spinocerebellar ataxia type 6: evidence for a strong founder effect among German families

Practical importance of neuroprotection in Parkinson's disease

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