
Movement Neurosciences
Articles
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Nov 20, 2024 |
academic.oup.com | Movement Neurosciences |Ashwin Kumar
GenoTools, a Python package, streamlines population genetics research by integrating ancestry estimation, quality control (QC), and genome-wide association studies (GWAS) capabilities into efficient pipelines. By tracking samples, variants, and quality-specific measures throughout fully customizable pipelines, users can easily manage genetics data for large and small studies.
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Oct 8, 2024 |
academic.oup.com | Institut du Cerveau |Movement Neurosciences
Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14. Neuropathological studies have shown that neuronal loss is largely restricted to the cerebellum. Although the repeat locus is highly unstable during intergenerational transmission, it remains unknown whether it exhibits cerebral mosaicism and progressive instability throughout life.
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Aug 5, 2024 |
jamanetwork.com | Movement Neurosciences |Andrew Lees
Recent publications have reported that α-synuclein seed amplification assays (SAAs) have potential as biomarker tests for Parkinson disease (PD).
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Jun 2, 2024 |
academic.oup.com | Movement Neurosciences
Biallelic expansions of the AAGGG repeat in the replication factor C subunit 1 (RFC1) have recently been described to be responsible for the cerebellar ataxia, peripheral neuropathy and vestibular areflexia syndrome. This genetic alteration has also allowed genetic classification in up to one third of cases with idiopathic sensory neuropathy.
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May 21, 2024 |
academic.oup.com | Movement Neurosciences |Clinical Neuroscience
We should be celebrating. As clinical academic neurologists, the neurological landscape has never looked so promising. The role of clinical academics is to marry clinical experience with basic science research—taking research from the bench through the translational pathway into patient-focused clinical trials.
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