Christopher Grunseich Alice B Schindler Ke-Lian Chen Dara Bakar Ami Mankodi Ryan Traslavina Abhik Ray-Chaudhury Tanya J Lehky Eva H Baker Nicholas J Maragakis Cynthia J Tifft Kenneth H Fischbeck
10.1007/s00415-015-7683-x
J Neurol
2015;262(4):1066-8.
CC BY
https://pubmed.ncbi.nlm.nih.gov/25736553/
Proteins / genetics Sandhoff Disease / genetics Sandhoff Disease / physiopathology beta-Hexosaminidase beta Chain / genetics
Proteins / genetics Sandhoff Disease / genetics Sandhoff Disease / physiopathology beta-Hexosaminidase beta Chain / genetics Case Reports Letter Research Support, N.I.H., Intramural Female Humans Intracellular Signaling Peptides and Proteins Male Middle Aged Pedigree Intracellular Signaling Peptides and Proteins Proteins SH3TC2 protein, human HEXB protein, human beta-Hexosaminidase beta Chain
PMC4405612
25736553
Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency
2015