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Javier Simon-Sanchez

Showing results (11-20 of 21) with videos related to

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Journal of Neurology, Neurosurgery, and Psychiatry|February 15, 2013
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphismStephan Klebe, Jean-Louis Golmard, Michael A Nalls, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Genome Biology|February 1, 2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingIris E Jansen, Hui Ye, Sasja Heetveld, et al.
Plos Genetics|May 10, 2008
A genome-wide association study identifies protein quantitative trait loci (pQTLs)David Melzer, John R B Perry, Dena Hernandez, et al.
Annals of Neurology|May 29, 2009
SNCA variants are associated with increased risk for multiple system atrophySonja W Scholz, Henry Houlden, Claudia Schulte, et al.
Neurobiology of Aging|June 11, 2018
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patientsYalda Baradaran-Heravi, Lubina Dillen, Hung Phuoc Nguyen, et al.
The Lancet. Neurology|March 13, 2012
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyElisa Majounie, Alan E Renton, Kin Mok, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 30, 2019
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic InsightSara Bandres-Ciga, Sarah Ahmed, Marya S Sabir, et al.
Acta Neuropathologica|January 20, 2020
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevitySven J van der Lee, Olivia J Conway, Iris Jansen, et al.
Acta Neuropathologica|February 11, 2019
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLDCyril Pottier, Yingxue Ren, Ralph B Perkerson, et al.
Pageof 3

Showing results (11-20 of 21) with videos related to

Sort By:
Pageof 3
Journal of Neurology, Neurosurgery, and Psychiatry|February 15, 2013
The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphismStephan Klebe, Jean-Louis Golmard, Michael A Nalls, et al.
The Journal of Clinical Investigation|February 4, 2021
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystoniaNiccolò E Mencacci, Marisa M Brockmann, Jinye Dai, et al.
Genome Biology|February 1, 2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencingIris E Jansen, Hui Ye, Sasja Heetveld, et al.
Plos Genetics|May 10, 2008
A genome-wide association study identifies protein quantitative trait loci (pQTLs)David Melzer, John R B Perry, Dena Hernandez, et al.
Annals of Neurology|May 29, 2009
SNCA variants are associated with increased risk for multiple system atrophySonja W Scholz, Henry Houlden, Claudia Schulte, et al.
Neurobiology of Aging|June 11, 2018
No supportive evidence for TIA1 gene mutations in a European cohort of ALS-FTD spectrum patientsYalda Baradaran-Heravi, Lubina Dillen, Hung Phuoc Nguyen, et al.
The Lancet. Neurology|March 13, 2012
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyElisa Majounie, Alan E Renton, Kin Mok, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 30, 2019
The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic InsightSara Bandres-Ciga, Sarah Ahmed, Marya S Sabir, et al.
Acta Neuropathologica|January 20, 2020
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevitySven J van der Lee, Olivia J Conway, Iris Jansen, et al.
Acta Neuropathologica|February 11, 2019
Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLDCyril Pottier, Yingxue Ren, Ralph B Perkerson, et al.
Pageof 3