Christian Beetz
Jena University Hospital(DE)Centogene (Germany)(DE)Friedrich Schiller University Jena(DE)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Neurological diseases and metabolism, Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Cellular transport and secretion
Most-Cited Works
- → Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations(2014)296 cited
- → REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31(2008)180 cited
- → Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia(2017)168 cited
- → High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia(2006)139 cited
- → Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas(2014)132 cited
- → In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11(2015)128 cited