23 research outputs found
Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature
No full textPLA2G6 mutations associated with a continuous clinical spectrum from neuroaxonal dystrophy to hereditary spastic paraplegia
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Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study
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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
No full textNPC1 is enriched in unexplained early onset ataxia: a targeted high-throughput screening
No full textDe novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function
No full textBody cremated. Eva Rundle - wife.https://stars.library.ucf.edu/cfm-ch-register-vol17/1362/thumbnail.jp
Real-Life Turning Movements Capture Subtle Longitudinal and Preataxic Changes in Cerebellar Ataxia
No full textTranscript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia
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