Research area · week to 3 Oct 2026

Neurogenetic and Muscular Disorders Research

Moving in bioRxiv, Frontiers in Genetics, Cell, Cell Reports, Communications Biology, Molecular Cell, New England Journal of Medicine, Trends in Genetics.

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Latest in Neurogenetic and Muscular Disorders Research

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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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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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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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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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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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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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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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RhoA in postnatal spinal motoneuron is essential for peripheral myelination.
Communications Biology · 1 Sept 2026 · Journal Article
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https://jclub.com.au/a/42760283
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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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SMD2 reads pseudouridines to regulate mRNA splicing and promote tumorigenesis.
Molecular Cell · 20 Aug 2026 · Journal Article
SMD2, a core spliceosomal protein, directly reads pseudouridines in mRNA to regulate splicing and promote tumor growth, with SNRPD2 overexpressed in multiple cancers.
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Reclassification of the GRIA3 splice-site variant in an X-linked family with intellectual disability and psychiatric symptoms.
Frontiers in Genetics · 14 Aug 2026 · Journal Article
A novel GRIA3 splice-site variant causes intellectual disability and psychiatric symptoms, expanding the phenotypic spectrum in an X-linked family.
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https://jclub.com.au/a/42666715
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Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasis
bioRxiv · 9 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.03.20.713246
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An emergent disease-associated motor neuron state precedes cell death in ALS.
Cell · 6 Aug 2026 · Journal Article
Vulnerable alpha motor neurons in ALS develop a conserved, disease-associated state marked by distinct molecular changes and transcription factor networks, occurring before cell death.
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Unlocking Your Programmable and Creative RNA Sequence Designer with RDiffusion
bioRxiv · 6 Aug 2026 · Preprint
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https://jclub.com.au/a/10.64898/2026.06.13.732023
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