2 Result(s)

Article

Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder with defective DNA nucleotide excision repair and associated with a high frequency of skin cancer. Approximately 25% of patients develo...

Tanya J. Lehky, Paul Sackstein, Deborah Tamura, Martha Quezado, Tianxia Wu… in BMC Neurology (2021)

Article

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Christopher Grunseich, Alice B. Schindler, Ke-lian Chen, Dara Bakar… in Journal of Neurology (2015)