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Andrew B Singleton

Showing results (231-240 of 397) with videos related to

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American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
NPJ Parkinson'S Disease|June 29, 2023
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10Milda Aleknonytė-Resch, Joanne Trinh, Hampton Leonard, 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.
The Lancet. Digital Health|February 1, 2026
CARDBiomedBench: a benchmark for evaluating the performance of large language models in biomedical researchOwen Bianchi, Maya Willey, Chelsea X Alvarado, 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.
Biorxiv : the Preprint Server for Biology|January 27, 2025
CARDBiomedBench: A Benchmark for Evaluating Large Language Model Performance in Biomedical Research: A novel question-and-answer benchmark designed to assess Large Language Models' comprehension of biomedical research, piloted on Neurodegenerative DiseasesOwen Bianchi, Maya Willey, Chelsea X Alvarado, et al.
Neurobiology of Aging|February 6, 2018
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's diseaseCornelis Blauwendraat, Demis A Kia, Lasse Pihlstrøm, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 30, 2019
The Parkinson's Disease Mendelian Randomization Research PortalAlastair J Noyce, Sara Bandres-Ciga, Jonggeol Kim, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 22, 2022
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European PopulationKimberley J Billingsley, Pilar Alvarez Jerez, Francis P Grenn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 6, 2016
Arguing against the proposed definition changes of PDBradley F Boeve, Dennis W Dickson, John E Duda, et al.
Pageof 40

Showing results (231-240 of 397) with videos related to

Sort By:
Pageof 40
American Journal of Human Genetics|November 12, 2013
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominanceCharlotte J Sumner, Constantin d'Ydewalle, Joe Wooley, et al.
NPJ Parkinson'S Disease|June 29, 2023
Genome-wide case-only analysis of gene-gene interactions with known Parkinson's disease risk variants reveals link between LRRK2 and SYT10Milda Aleknonytė-Resch, Joanne Trinh, Hampton Leonard, 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.
The Lancet. Digital Health|February 1, 2026
CARDBiomedBench: a benchmark for evaluating the performance of large language models in biomedical researchOwen Bianchi, Maya Willey, Chelsea X Alvarado, 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.
Biorxiv : the Preprint Server for Biology|January 27, 2025
CARDBiomedBench: A Benchmark for Evaluating Large Language Model Performance in Biomedical Research: A novel question-and-answer benchmark designed to assess Large Language Models' comprehension of biomedical research, piloted on Neurodegenerative DiseasesOwen Bianchi, Maya Willey, Chelsea X Alvarado, et al.
Neurobiology of Aging|February 6, 2018
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's diseaseCornelis Blauwendraat, Demis A Kia, Lasse Pihlstrøm, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 30, 2019
The Parkinson's Disease Mendelian Randomization Research PortalAlastair J Noyce, Sara Bandres-Ciga, Jonggeol Kim, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 22, 2022
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European PopulationKimberley J Billingsley, Pilar Alvarez Jerez, Francis P Grenn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 6, 2016
Arguing against the proposed definition changes of PDBradley F Boeve, Dennis W Dickson, John E Duda, et al.
Pageof 40