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EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

European journal of neurology, 2014-04, Vol.21 (4), p.552-562

2014

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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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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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The aetiology of sporadic adult-onset ataxia

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

2002

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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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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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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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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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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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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

Lancet neurology, 2004-05, Vol.3 (5), p.291-304

2004

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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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EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

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

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

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

The aetiology of sporadic adult-onset ataxia

Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

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

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

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

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

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

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