Thomas Deufel
Jena University Hospital(DE)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Hereditary Neurological Disorders, Mitochondrial Function and Pathology, Neurogenetic and Muscular Disorders Research, Neurological diseases and metabolism
Most-Cited Works
- → Localization of the malignant hyperthermia susceptibility locus to human chromosome 19ql2–13.2(1990)373 cited
- → Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia(2001)247 cited
- → REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31(2008)180 cited
- → Localization of the gene encoding the α2/δ-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families(1994)166 cited
- → Non‐enzymatic glycosylation of human serum lipoproteins Elevated ϵ‐lysine glycosylated low density lipoprotein in diabetic patients(1981)153 cited
- → High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia(2006)139 cited