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Hepatology (Baltimore, Md.)
|
July 2, 2024
Reduction of Z alpha-1 antitrypsin polymers in human iPSC-hepatocytes and mice by LRRK2 inhibitors
Deniz Kent, Soon Seng Ng, Adam M Syanda, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 8, 2021
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism
Francesca Magrinelli, Sahil Mehta, Giulia Di Lazzaro, et al.
Brain : a Journal of Neurology
|
May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Human Molecular Genetics
|
November 1, 2016
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
Steven J Lubbe, Valentina Escott-Price, J Raphael Gibbs, et al.
Plos One
|
August 23, 2013
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus
Daniah Trabzuni, Mina Ryten, Warren Emmett, et al.
Brain : a Journal of Neurology
|
September 8, 2022
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci
Marc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, et al.
Cell Reports
|
June 9, 2021
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein
Eleanna Kara, Alessandro Crimi, Anne Wiedmer, et al.
Plos One
|
September 7, 2012
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research
Selina Wray, Matthew Self, , et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications
|
April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
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Search research articles
Search
Showing results (101-110 of 113) with videos related to
Sort By:
Page
of 12
Hepatology (Baltimore, Md.)
|
July 2, 2024
Reduction of Z alpha-1 antitrypsin polymers in human iPSC-hepatocytes and mice by LRRK2 inhibitors
Deniz Kent, Soon Seng Ng, Adam M Syanda, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
October 8, 2021
Dissecting the Phenotype and Genotype of PLA2G6-Related Parkinsonism
Francesca Magrinelli, Sahil Mehta, Giulia Di Lazzaro, et al.
Brain : a Journal of Neurology
|
May 25, 2016
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Eleanna Kara, Arianna Tucci, Claudia Manzoni, et al.
Human Molecular Genetics
|
November 1, 2016
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance
Steven J Lubbe, Valentina Escott-Price, J Raphael Gibbs, et al.
Plos One
|
August 23, 2013
Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus
Daniah Trabzuni, Mina Ryten, Warren Emmett, et al.
Brain : a Journal of Neurology
|
September 8, 2022
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci
Marc P M Soutar, Daniela Melandri, Benjamin O'Callaghan, et al.
Cell Reports
|
June 9, 2021
An integrated genomic approach to dissect the genetic landscape regulating the cell-to-cell transfer of α-synuclein
Eleanna Kara, Alessandro Crimi, Anne Wiedmer, et al.
Plos One
|
September 7, 2012
Creation of an open-access, mutation-defined fibroblast resource for neurological disease research
Selina Wray, Matthew Self, , et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 16, 2024
<i>PSMF1</i> variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Nature Communications
|
April 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, et al.
Page
of 12