Blood tau proteins linked to muscle and motor measures in adult SMA
A retrospective multicentre study linked blood p-tau181 and p-tau217 to motor, respiratory and creatine kinase measures in SMA, with exploratory ...
Tag: spinal muscular atrophy
Three FDA-Approved Therapies Have Transformed Spinal Muscular Atrophy, Yet Major Unmet Needs Remain
A comprehensive review details how three FDA-approved therapies have dramatically improved spinal muscular atrophy outcomes while highlighting persistent comorbidities and ...
From First Breath to Lifelong Care: How Newborn Screening Is Being Rebuilt Around Every Child
The Society for Pediatric Research's 2026 Mary Ellen Avery Award recognizes Wendy Chung's work building population-scale newborn screening systems, from ...
Million-Dollar Cures: Why Insurance Policy Now Decides Which Children Get Gene Therapy
A new Pediatric Research commentary argues that insurance coverage and reimbursement policy, not the underlying science, now determine which children ...
Long-Read Sequencing Steps Into the Clinic for Spinal Muscular Atrophy Diagnosis
A new clinical study shows that third-generation long-read sequencing matches conventional tests perfectly while revealing hidden carrier risks and gene ...
REM Sleep Holds the First Clues That Children With Muscle Disease Need Breathing Support
A Canadian multicenter study of 115 children shows that new CHEST guideline criteria and REM-sleep-specific measures detect early sleep-disordered breathing ...
Gene Therapy Now Leads Spinal Muscular Atrophy Treatment as Real-World Sequencing Patterns Emerge
A large US claims analysis shows that after widespread newborn screening, gene replacement therapy has become the dominant first treatment ...
Sleep Lab Thresholds Under Scrutiny: When Should Children With Muscle Disease Start Ventilation?
A new letter in the Journal of Clinical Sleep Medicine scrutinizes the polysomnographic thresholds used to decide when children with ...
Stress-Triggered SMN Droplets Act as a Rescue System for Misplaced Splicing Machinery
Researchers in Bonn have discovered that the SMN protein forms reversible cytoplasmic condensates under stress to trap and clear misplaced ...
Approved Metabolism Drugs Rescue Disease Signs in SMA Mice
Three commercially approved metabolism-targeting drugs—pioglitazone, melatonin and insulin—improved survival, motor function, muscle size and hepatic pathology in Smn2B/- spinal muscular ...
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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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