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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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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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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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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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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.1355-1362

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

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

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

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

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

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

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

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

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

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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