Simone M. Sauter

ZFYVE27 (SPG33), a Novel Spastin-Binding Protein, Is Mutated in Hereditary Spastic Paraplegia

Ashraf U. Mannan, Philip Lars Krawen, Simone M. Sauter et al. · The American Journal of Human Genetics · 2006 · 139 citations · Full text

Is Mutated, Medicine, Genetics +5

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

Iris Bartels, Heike Starke, Loukas Argyriou et al. · European Journal of Medical Genetics · 2006 · 101 citations

Biology, Chromatin, Azoospermic Male +10

Mutation analysis of the<i>spastin</i>gene (<i>SPG4</i>) in patients in Germany with autosomal dominant hereditary spastic paraplegia

Simone M. Sauter, Bianca Miterski, Sven Klimpe et al. · Human Mutation · 2002 · 99 citations

Progressive Spasticity, Rare Diseases, Mendelian Disorder +12

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

Moneef Shoukier, Jürgen Neesen, Simone M. Sauter et al. · European Journal of Human Genetics · 2008 · 89 citations · Full text

Biology, Mutation Cluster Regions, Genetic Disorder +8

Novel mutations in theAtlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to theSPG3A locus

Simone M. Sauter, Wolfgang Engel, Luitgard M. Neumann et al. · Human Mutation · 2003 · 64 citations · Full text

Progressive Spasticity, Mendelian Disorder, Late Onset Forms +13