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#TitleJournalYearCitations
1Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthaseNature Genetics2004359
2SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegiaNature Genetics2002240
3Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with DementiaAmerican Journal of Human Genetics2003158
4The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegiaGenomics2003128
5Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndromeHuman Genetics198464
6Troyer syndrome revisitedJournal of Neurology200442
7Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in theSPG4 (Spastin) geneHuman Mutation200331
8Novel mutations in the pejvakin gene are associated with autosomal recessive non‐syndromic hearing loss in Iranian familiesClinical Genetics200731
9Disruption of cellular transport: a common cause of neurodegeneration?Lancet Neurology, The200328
10Evidence for conformational changes in Escherichia coli porphobilinogen deaminase during stepwise pyrrole chain elongation monitored by increased reactivity of cysteine-134 to alkylation by N-ethylmaleimideBiochemistry199524
11Complicated hereditary spastic paraplegia with thin corpus callosum: Variation of phenotypic expression over timeJournal of Neurology200413