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Detection of HTLV-I in peripheral blood lymphocytes from patients with chronic HTLV-I-associated myelopathy/tropical spastic paraparesis and asymptomatic carriers by PCR-in situ hybridization

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  1. Article

    Open Access

    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)

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  2. Article

    Open Access

    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)

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  3. Article

    Open Access

    Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

    Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial m...

    Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Wai-Man Chan… in Nature Genetics (2023)

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