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Human Molecular Genetics
|
January 15, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk
Steven J Lubbe, Bernabe I Bustos, Jing Hu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 5, 2024
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, et al.
Stem Cell Reports
|
March 11, 2022
Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls
Dina Simkin, Vasileios Papakis, Bernabe I Bustos, et al.
Neurobiology of Aging
|
October 28, 2022
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent
Jing Hu, Cheryl H Waters, Dan Spiegelman, et al.
Elife
|
February 5, 2021
Dyshomeostatic modulation of Ca<sup>2+</sup>-activated K<sup>+</sup> channels in a human neuronal model of KCNQ2 encephalopathy
Dina Simkin, Kelly A Marshall, Carlos G Vanoye, et al.
Brain : a Journal of Neurology
|
March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystonia
Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Brain : a Journal of Neurology
|
May 26, 2026
Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank study
Marzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Is <i>SORL1</i> a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment
Marzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
Annals of Neurology
|
August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Dora Steel, Michael Zech, Chen Zhao, et al.
NPJ Parkinson'S Disease
|
March 4, 2023
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data
Hampton L Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco, et al.
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Search research articles
Search
Showing results (11-20 of 20) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 20 results.
Human Molecular Genetics
|
January 15, 2021
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk
Steven J Lubbe, Bernabe I Bustos, Jing Hu, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
April 5, 2024
De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures
Ignacio J Keller Sarmiento, Bernabe I Bustos, Joanna Blackburn, et al.
Stem Cell Reports
|
March 11, 2022
Homozygous might be hemizygous: CRISPR/Cas9 editing in iPSCs results in detrimental on-target defects that escape standard quality controls
Dina Simkin, Vasileios Papakis, Bernabe I Bustos, et al.
Neurobiology of Aging
|
October 28, 2022
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent
Jing Hu, Cheryl H Waters, Dan Spiegelman, et al.
Elife
|
February 5, 2021
Dyshomeostatic modulation of Ca<sup>2+</sup>-activated K<sup>+</sup> channels in a human neuronal model of KCNQ2 encephalopathy
Dina Simkin, Kelly A Marshall, Carlos G Vanoye, et al.
Brain : a Journal of Neurology
|
March 2, 2023
Variants in ATP5F1B are associated with dominantly inherited dystonia
Alessia Nasca, Niccolò E Mencacci, Federica Invernizzi, et al.
Brain : a Journal of Neurology
|
May 26, 2026
Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank study
Marzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 6, 2026
Is <i>SORL1</i> a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment
Marzieh Khani, Sheila N Yeboah, Catalina Cerquera-Cleves, et al.
Annals of Neurology
|
August 19, 2020
Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities
Dora Steel, Michael Zech, Chen Zhao, et al.
NPJ Parkinson'S Disease
|
March 4, 2023
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data
Hampton L Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco, et al.
Page
of 2