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Cold Spring Harbor Molecular Case Studies
|
June 5, 2019
A novel <i>TBK1</i> mutation in a family with diverse frontotemporal dementia spectrum disorders
Ruth Lamb, Jonathan D Rohrer, Raquel Real, et al.
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.
The Journal of Bone and Joint Surgery. American Volume
|
March 24, 2021
Effect of Postoperative Analgesic Exposure to the Cannabinoid Receptor Agonist WIN55 on Osteogenic Differentiation and Spinal Fusion in Rats
Chawon Yun, Meraaj S Haleem, Soyeon Jeong, 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.
Acta Neuropathologica
|
May 24, 2025
Annexin A6 membrane repair protein protects against amyloid-induced dystrophic neurites and tau phosphorylation in Alzheimer's disease model mice
Katherine R Sadleir, Karen P Gomez, Abigail E Edwards, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2019
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study
Miryam Carecchio, Federica Invernizzi, Paulina Gonzàlez-Latapi, et al.
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Search research articles
Search
Showing results (51-60 of 75) with videos related to
Sort By:
Page
of 8
Cold Spring Harbor Molecular Case Studies
|
June 5, 2019
A novel <i>TBK1</i> mutation in a family with diverse frontotemporal dementia spectrum disorders
Ruth Lamb, Jonathan D Rohrer, Raquel Real, et al.
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.
The Journal of Bone and Joint Surgery. American Volume
|
March 24, 2021
Effect of Postoperative Analgesic Exposure to the Cannabinoid Receptor Agonist WIN55 on Osteogenic Differentiation and Spinal Fusion in Rats
Chawon Yun, Meraaj S Haleem, Soyeon Jeong, 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.
Acta Neuropathologica
|
May 24, 2025
Annexin A6 membrane repair protein protects against amyloid-induced dystrophic neurites and tau phosphorylation in Alzheimer's disease model mice
Katherine R Sadleir, Karen P Gomez, Abigail E Edwards, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
June 20, 2019
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study
Miryam Carecchio, Federica Invernizzi, Paulina Gonzàlez-Latapi, et al.
Page
of 8