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UnknownBiallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Not available
S-EPMC8353599 | biostudies-literature
Unknown<i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3.
Not available
S-EPMC11773626 | biostudies-literature
UnknownGenome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.
Not available
S-EPMC9000935 | biostudies-literature
UnknownNatural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Not available
S-EPMC7805791 | biostudies-literature
UnknownAdvancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Not available
S-EPMC11698638 | biostudies-literature
UnknownPartial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Not available
S-EPMC6925349 | biostudies-literature
UnknownOlfactory Dysfunction After SARS-CoV-2 Infection in the RECOVER Adult Cohort.
Not available
S-EPMC12464792 | biostudies-literature
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