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List of works by Estelle Fedirko

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

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

scientific article published on 2 June 2009

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

scientific article published on 10 November 2006

Mental deficiency in three families with SPG4 spastic paraplegia

scientific article published on 24 October 2007

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

scientific article published on 9 September 2011

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

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

scientific article

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