One Nanopore Panel Reads Out Parkinson’s Genes and Repeat Expansions Together
Researchers have built a 564-gene nanopore adaptive sampling panel that detects Parkinson's disease variants, structural rearrangements, and repeat expansions in ...
Tag: C9ORF72
Astrocytes Drive the Mitochondrial Traffic Jams Behind a Common Form of ALS
New research shows that astrocytes carrying the C9ORF72 mutation disrupt mitochondrial transport in motor neurons through a contact-dependent bioenergetic mechanism ...
Molecular Chaperones Keep ALS Protein Droplets From Hardening Into Disease
A new review in BMC Medicine argues that ALS arises when the cellular systems that keep reversible protein condensates from ...
Deep learning reads the genome to flag ALS risk in over 47,000 people
An internationally validated deep learning model trained on genomes from more than 47,000 people can distinguish ALS patients from controls ...
Hidden RNA Errors Found at the Synapse in Frontotemporal Dementia
Multi-omic profiling of synaptosomes from C9ORF72-frontotemporal dementia brain and patient-derived neurons reveals widespread synaptic molecular disruption and, for the first ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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