Neurogenetic and Muscular Disorders Research

Moving in bioRxiv, Stem cell research, Trends in Genetics, Cell Reports, Communications Biology, Frontiers in Genetics, Neuron and New England Journal of Medicine.

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Papers in 60 days: 17

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Latest in Neurogenetic and Muscular Disorders Research

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Preemptive SOD1 Silencing via Neonatal Intramuscular AAV Therapy Modifies Disease Trajectory in an ALS Mouse Model
bioRxiv · 14 Oct 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.10.17.682996
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Durable and reversible epigenetic programming of human hematopoietic stem cells as a platform for modulation of platelet function
bioRxiv · 8 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.27.714536
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Multi-Domain Interplay Controls Full-Length TDP-43 Phase Separation and Condensate Dynamics
bioRxiv · 7 Oct 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.03.729912
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Maternal-fetal type I interferon signaling drives TREM2 dysregulation and synaptic dysfunction in neurodevelopmental disorders.
Neuron · 7 Oct 2026 · Journal Article
Maternal type I interferon signaling causes TREM2 dysregulation and synaptic dysfunction in offspring hippocampus in a neurodevelopmental disorder model.
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https://jclub.com.au/a/42190661
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Genetic suppressors as new therapeutic targets for Mendelian diseases.
Trends in Genetics · 1 Oct 2026 · Review
Genetic suppressors may provide new therapeutic targets for Mendelian diseases by counteracting disease-causing mutations.
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https://jclub.com.au/a/42392954
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Collapse of embryonic identities and emergence of functional diversity during motor neuron maturation.
Cell Reports · 30 Sept 2026 · Journal Article
Embryonic mouse skeletal motor neurons lose transcriptional diversity and re-diversify into adult subtypes to support functional maturation, with 70+ embryonic subclusters consolidating into distinct adult identities.
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https://jclub.com.au/a/42814575
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An automated machine vision-based index for Rett Syndrome provides a generalizable framework for modeling rare disease therapeutics
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.21.753377
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The Female Side of Autism: Sexual Dichotomies impacting the Helsmoortel-Van der Aa syndrome pathology.
bioRxiv · 25 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.09.20.752986
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A Cure Out of Most Patients' Reach - Sickle Cell Disease in the Gene-Therapy Era.
New England Journal of Medicine · 24 Sept 2026 · Journal Article
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https://jclub.com.au/a/42765644
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Centrosome Loss Alters Axonal and Muscle Development
bioRxiv · 14 Sept 2026 · Preprint
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https://jclub.com.au/a/10.1101/2025.01.26.634909
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Loss of LanC-like proteins impairs post-injury regeneration of aging muscles
bioRxiv · 14 Sept 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.05.15.725287
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Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.
Frontiers in Genetics · 7 Sept 2026 · Case Reports
Presymptomatic risdiplam led to significant motor improvements in preterm monozygotic twins with co-occurring SMA and TSC, marking the first such case report.
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https://jclub.com.au/a/42764968
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The SMN locus in the T2T era: Structure, gene conversion, and clinical implications.
Trends in Genetics · 1 Sept 2026 · Review
Advanced sequencing technologies reveal extensive structural and nucleotide-level diversity in the SMN locus, impacting clinical understanding of spinal muscular atrophy.
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https://jclub.com.au/a/42276860
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RhoA in postnatal spinal motoneuron is essential for peripheral myelination.
Communications Biology · 1 Sept 2026 · Journal Article
RhoA in postnatal spinal motoneurons is crucial for peripheral myelination, with its absence causing significant hypomyelination in mice.
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https://jclub.com.au/a/42760283
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Generation and characterization of three human induced pluripotent stem cell lines from patients with Duchenne muscular dystrophy.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42594646
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Generation and characterization of human induced pluripotent stem cell line AUSCIi001-A from spinal muscular atrophy patient.
Stem cell research · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42632224
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Derivation of a new induced pluripotent stem cell line ORIONi004-A for modelling Duchenne muscular dystrophy.
Stem cell research · 1 Sept 2026 · Journal Article
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