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List of works by Merle Ruberg

A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

scientific article

Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment

scientific article

Consequence of nigrostriatal denervation and L-dopa therapy on the expression of glutamic acid decarboxylase messenger RNA in the pallidum

scientific article

Consequences of nigrostriatal denervation on the gamma-aminobutyric acidic neurons of substantia nigra pars reticulata and superior colliculus in parkinsonian syndromes

scientific article

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

scientific article published on 10 November 2006

How much phenotypic variation can be attributed to parkin genotype?

scientific article

Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins

scientific article published on 28 July 2016

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

scientific article

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.

scientific article

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

scientific article published on 18 February 2007

Recent advances in the genetics of spastic paraplegias

scientific article published on May 2008

The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice

scientific article

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