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List of works by Emeline Mundwiller

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

scientific article

A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum

scientific article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia

scientific article published on 06 June 2013

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

scientific article published in February 2009

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders

scientific article

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

scientific article

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia

scientific article published on 3 April 2015

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

scientific article

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia

scientific article

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia

scientific article

Mutations in KCND3 cause spinocerebellar ataxia type 22.

scientific article

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

scientific article published on 9 September 2011

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

scientific article

The impact of rare variants in FUS in essential tremor

scientific article published on 28 January 2015

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