Results 161 to 170 of about 297,450 (276)

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

open access: yesAnnals of Neurology, EarlyView.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul   +15 more
wiley   +1 more source

Fast‐Track to Functional Neurons: Accessible and Minimalistic Neurogenin 2 Programming of Human iPSCs

open access: yesAdvanced NanoBiomed Research, EarlyView.
Fast‐track to functional human induced pluripotent stem cell (hiPSC)‐derived neurons: This colony‐initiated differentiation approach induces neurogenin 2 overexpression in dense hiPSC colonies (day 0), resulting in a structural reorganization of the colonies (day 2) before they are replated as single cells.
Jann Harberts   +9 more
wiley   +1 more source

A Long Journey into Reproducible Computational Neuroscience

open access: yesFrontiers in Computational Neuroscience, 2015
Meropi eTopalidou   +10 more
doaj   +1 more source

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