List of works - Stephan Klebe

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

scientific article published on June 2013

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

scientific article

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

scientific article

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

scientific article published on 24 January 2006

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

scientific article

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

scientific article published on June 1, 2012

Genome-wide association study in essential tremor identifies three new loci

scientific article published on 20 October 2016

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

scientific article published in May 2006

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

scientific article

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

scientific article

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

scientific article published in November 2005

PARKIN Inactivation Links Parkinson's Disease to Melanoma

scientific article published on 17 December 2015

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

scientific journal article

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

scientific article

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

article

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

scientific article published on 13 February 2013

The impact of rare variants in FUS in essential tremor

scientific article published on 28 January 2015

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

scientific article

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

List of works by Stephan Klebe

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies

A novel locus for autosomal recessive spastic ataxia on chromosome 17p

A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

Another Mutation in Cysteine 131 in Protein Kinase Cγ as a Cause of Spinocerebellar Ataxia Type 14

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Dopamine receptor D3 gene and essential tremor in large series of German, Danish and French patients

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? ⬇️

Genome-wide association study in essential tremor identifies three new loci

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

PARKIN Inactivation Links Parkinson's Disease to Melanoma

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism

The impact of rare variants in FUS in essential tremor

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3