Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

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Bibliographic Details
Published in:Journal of neurology 2015-04, Vol.262 (4), p.1066-1068
Main Authors: Grunseich, Christopher, Schindler, Alice B., Chen, Ke-lian, Bakar, Dara, Mankodi, Ami, Traslavina, Ryan, Ray-Chaudhury, Abhik, Lehky, Tanya J., Baker, Eva H., Maragakis, Nicholas J., Tifft, Cynthia J., Fischbeck, Kenneth H.
Format: Article
Language:English
Subjects:
Atrophy
beta-Hexosaminidase beta Chain - genetics
Biopsy
Female
Humans
Letter to the Editors
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Neurological disorders
Neurology
Neuroradiology
Neurosciences
Pedigree
Peripheral neuropathy
Proteins - genetics
Sandhoff Disease - genetics
Sandhoff Disease - physiopathology
Siblings
Spectrum analysis
Stroke
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ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-015-7683-x