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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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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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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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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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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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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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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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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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2.018 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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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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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

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)

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

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

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)

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

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

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

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

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