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Cyril Pottier

Showing results (11-20 of 50) with videos related to

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Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 22, 2018
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case reportCyril Pottier, Evadnie Rampersaud, Matt Baker, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystoniaGaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, et al.
Journal of Alzheimer'S Disease : JAD|August 15, 2018
Three VCP Mutations in Patients with Frontotemporal DementiaTsz Hang Wong, Cyril Pottier, David C Hondius, et al.
BMC Bioinformatics|April 18, 2018
Identification of missing variants by combining multiple analytic pipelinesYingxue Ren, Joseph S Reddy, Cyril Pottier, et al.
Plos One|April 16, 2021
Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studiesDaniel P Wickland, Yingxue Ren, Jason P Sinnwell, et al.
Human Molecular Genetics|February 10, 2025
Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosisMaulikkumar Patel, Cyril Pottier, Kang-Hsien Fan, et al.
Neurobiology of Aging|August 27, 2020
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patientsMerel O Mol, Jeroen G J van Rooij, Tsz H Wong, et al.
American Journal of Neurodegenerative Disease|April 14, 2016
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in FloridaThomas A Ravenscroft, Cyril Pottier, Melissa E Murray, et al.
Molecular Neurodegeneration|November 18, 2025
High-sensitivity plasma proteomics reveals disease-specific signatures and predictive biomarkers of Alzheimer's disease phenotypes in a large mixed-dementia cohortKatherine Gong, Jigyasha Timsina, Muhammad Ali, et al.
Neurology|December 21, 2012
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcificationGaël Nicolas, Cyril Pottier, David Maltête, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration|March 22, 2018
Identification of compound heterozygous variants in OPTN in an ALS-FTD patient from the CReATe consortium: a case reportCyril Pottier, Evadnie Rampersaud, Matt Baker, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystoniaGaël Nicolas, Agnès Jacquin, Christel Thauvin-Robinet, et al.
Journal of Alzheimer'S Disease : JAD|August 15, 2018
Three VCP Mutations in Patients with Frontotemporal DementiaTsz Hang Wong, Cyril Pottier, David C Hondius, et al.
BMC Bioinformatics|April 18, 2018
Identification of missing variants by combining multiple analytic pipelinesYingxue Ren, Joseph S Reddy, Cyril Pottier, et al.
Plos One|April 16, 2021
Impact of variant-level batch effects on identification of genetic risk factors in large sequencing studiesDaniel P Wickland, Yingxue Ren, Jason P Sinnwell, et al.
Human Molecular Genetics|February 10, 2025
Whole-genome sequencing reveals the impact of lipid pathway and APOE genotype on brain amyloidosisMaulikkumar Patel, Cyril Pottier, Kang-Hsien Fan, et al.
Neurobiology of Aging|August 27, 2020
Underlying genetic variation in familial frontotemporal dementia: sequencing of 198 patientsMerel O Mol, Jeroen G J van Rooij, Tsz H Wong, et al.
American Journal of Neurodegenerative Disease|April 14, 2016
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in FloridaThomas A Ravenscroft, Cyril Pottier, Melissa E Murray, et al.
Molecular Neurodegeneration|November 18, 2025
High-sensitivity plasma proteomics reveals disease-specific signatures and predictive biomarkers of Alzheimer's disease phenotypes in a large mixed-dementia cohortKatherine Gong, Jigyasha Timsina, Muhammad Ali, et al.
Neurology|December 21, 2012
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcificationGaël Nicolas, Cyril Pottier, David Maltête, et al.
Pageof 5