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Kylie Montgomery

Showing results (1-10 of 5) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|May 21, 2026
From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read TranscriptomicsCharles Wade, Kylie Montgomery, Gabriela E Jones, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2024
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
Acta Neuropathologica Communications|January 3, 2024
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)Huihui Luo, Emil K Gustavsson, Hannah Macpherson, et al.
Science Advances|June 26, 2024
The annotation of <i>GBA1</i> has been concealed by its protein-coding pseudogene <i>GBAP1</i>Emil K Gustavsson, Siddharth Sethi, Yujing Gao, et al.
Pageof 1

Showing results (1-10 of 5) with videos related to

Sort By:
Pageof 1
Movement Disorders : Official Journal of the Movement Disorder Society|May 21, 2026
From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long-Read TranscriptomicsCharles Wade, Kylie Montgomery, Gabriela E Jones, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 10, 2024
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|December 5, 2024
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral FounderZhongbo Chen, Pilar Alvarez Jerez, Claire Anderson, et al.
Acta Neuropathologica Communications|January 3, 2024
Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)Huihui Luo, Emil K Gustavsson, Hannah Macpherson, et al.
Science Advances|June 26, 2024
The annotation of <i>GBA1</i> has been concealed by its protein-coding pseudogene <i>GBAP1</i>Emil K Gustavsson, Siddharth Sethi, Yujing Gao, et al.
Pageof 1