Author

Simone M. Sauter

Observed names: S. M. Sauter, S. Sauter, S.M. Sauter, SM Sauter, Simone M Sauter, Simone Sauter

Institution: University of Vienna

Observed institutions: University of Vienna, Universität Ulm, University of Göttingen

OpenAlex ID: A5110181520

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

2006 · Ashraf U. Mannan, Philip Krawen, et al. · The American Journal of Human Genetics · 144

Mutation analysis of thespastingene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

2002 · S. Sauter, B. Miterski, et al. · Human Mutation · 103

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

2006 · Iris Bartels, Heike Starke, et al. · European Journal of Medical Genetics · 102

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

2008 · Moneef Shoukier, Juergen Neesen, et al. · European Journal of Human Genetics · 94

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

2003 · S.M. Sauter, W. Engel, et al. · Human Mutation · 63

Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein

2006 · Ashraf U. Mannan, Johann Boehm, et al. · Neurogenetics · 57

Chromosomal changes during progression of transitional cell carcinoma of the bladder and delineation of the amplified interval on chromosome arm 8q

1998 · Jochen Bruch, Gudrun Wöhr, et al. · Genes Chromosomes and Cancer · 54

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]

2003 · S. Sauter, G. von Beust, et al. · American Journal of Medical Genetics Part A · 22

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia

2008 · DVK Pantakani, U Zechner, et al. · Clinical Genetics · 15

Partial trisomy of distal 19q detected by quantitative real‐time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay

2007 · S.M. Sauter, Detlef Böhm, et al. · American Journal of Medical Genetics Part A · 13

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay

2005 · G. von Beust, S.M. Sauter, et al. · American Journal of Medical Genetics Part A · 11

Evaluating the effect of spastin splice mutations by quantitative allele‐specific expression assay

2010 · S. Klimpe, A. Zibat, et al. · European Journal of Neurology · 8

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

2009 · Moneef Shoukier, Juergen Neesen, et al. · European Journal of Human Genetics · 1

Exploration of novel data sources in electronic infection detection.

2014 · Jeroen S. de Bruin, Simone M. Sauter, et al. · Medical Informatics Europe

No correlation between amount of aberrant transcript and severity of phenotype in hereditary spastic paraplegia patients with a c.1242A > G splice mutation in the SPG4 gene

2005 · S. M. Sauter, N. Dörwald, et al. · Journal of Neurology

Works count: 15

Citation count: 687

H-index: 11

I10-index: 11