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Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

Human molecular genetics, 2008-04, Vol.17 (8), p.1137-1146

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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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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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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Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

Human molecular genetics, 2005-08, Vol.14 (15), p.2099-2111

2005

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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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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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Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?

Annals of neurology, 1997-12, Vol.42 (6), p.924-932

1997

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Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Nature genetics, 1999-12, Vol.23 (4), p.391-392

1999

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Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

Human molecular genetics, 2003-06, Vol.12 (11), p.1223-1231

2003

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Do CTG expansions at the SCA8 locus cause ataxia?

Annals of neurology, 2003-07, Vol.54 (1), p.110-115

2003

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CAG repeats in restless legs syndrome

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2006-03, Vol.141B (2), p.173-176

2006

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Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra

Neuroscience letters, 2003-11, Vol.352 (1), p.53-56

2003

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Haploinsufficiency at the α‐synuclein gene underlies phenotypic severity in familial Parkinson’s disease

Brain (London, England : 1878), 2003-01, Vol.126 (1), p.32-42

2003

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Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

Movement disorders, 2004-11, Vol.19 (11), p.1294-1297

2004

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Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson’s disease

Brain research, 2002-09, Vol.951 (1), p.82-86

2002

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Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

Journal of neurology, neurosurgery and psychiatry, 1996-11, Vol.61 (5), p.466-470

1996

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Mutation at the SCA17 locus is not a common cause of primary dystonia

Journal of neurology, 2004-10, Vol.251 (10), p.1232-1234

2004

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14-3-3 protein is a component of Lewy bodies in Parkinson’s disease—Mutation analysis and association studies of 14-3-3 eta

Brain research. Molecular brain research., 2002-12, Vol.108 (1), p.33-39

2002

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Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families

Human molecular genetics, 1993-09, Vol.2 (9), p.1475-1476

1993

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Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

The aetiology of sporadic adult-onset ataxia

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

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

Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

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

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

Autosomal dominant cerebellar ataxia: Phenotypic differences in genetically defined subtypes?

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease

Do CTG expansions at the SCA8 locus cause ataxia?

CAG repeats in restless legs syndrome

Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra

Haploinsufficiency at the α‐synuclein gene underlies phenotypic severity in familial Parkinson’s disease

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson’s disease

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation

Mutation at the SCA17 locus is not a common cause of primary dystonia

14-3-3 protein is a component of Lewy bodies in Parkinson’s disease—Mutation analysis and association studies of 14-3-3 eta

Trinucleotide repeat elongation in the Huntingtin gene in Huntington Disease patients from 71 Danish families

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