Stefan-M. Pulst
University of Utah(US)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Neurofibromatosis and Schwannoma Cases, DNA Repair Mechanisms, Neurological disorders and treatments
Most-Cited Works
- → Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2(1996)1,123 cited
- → Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human(2000)333 cited
- → The Neuroimaging and Clinical Spectrum of Neurofibromatosis 2(1996)301 cited
- → Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes(2014)173 cited
- → Generation and characterization of Sca2 (ataxin-2) knockout mice(2005)140 cited
- → Spinocerebellar ataxia type 2: polyQ repeat variation in the CACNA1A calcium channel modifies age of onset(2005)122 cited
- → Late-Onset Friedreich Ataxia(2005)111 cited
- → Parkin is associated with actin filaments in neuronal and nonneural cells(2000)85 cited
- → Anticipation in spinocerebellar ataxia type 2(1993)77 cited
- → Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death(2006)58 cited