Congenital muscular dystrophy: from rags to riches

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Neuromuscular disorders : NMD·2026

Respiratory management in spinal muscular atrophy: development of a global outcome measure.

Neuromuscular disorders : NMD·2025

Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review.

Neuromuscular disorders : NMD·2025

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Neuromuscular disorders : NMD·2025

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping.

Neuromuscular disorders : NMD·2023

A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs.

Neuromuscular disorders : NMD·2021

Carotid Artery Stenting Is Now an Evidence-Based Adjunct to Intensive Medical Therapy for Stroke Prevention.

Neurology·2026

Autonomic Network Signatures of Interictal Cardiorespiratory Dysfunction in Patients With Temporal Lobe Epilepsy.

Neurology·2026

Evaluation of Disease Severity Using CSF Biomarkers in Patients With Probable Cerebral Amyloid Angiopathy.

Neurology·2026

Repairing the Amyotrophic Lateral Sclerosis Trial Credibility Gap.

Neurology·2026

Association Between Immigration Status and the Intensity of Acute Stroke Care in Ontario, Canada: A Retrospective Study.

Neurology·2026

Gestational Changes in Antiseizure Medication Concentrations and the Impact of Polytherapy: A Prospective Multicenter Cohort Study in China.

Neurology·2026

Loss of SUMOylation drives aberrant PRC1 clustering and 3D genome rewiring independent of H3K27me3.

Nucleic acids research·2026

Hyponatremia as the Initial Presentation of Rathke's Cleft Cyst-Related Hypopituitarism.

Cureus·2026

Crystal structure of seladelpar, C21H23F3O5S, from synchrotron powder diffraction data and density functional theory.

Acta crystallographica. Section E, Crystallographic communications·2026

A Biophysical Hypothesis for Compartment-Specific Conformational States of the IQSEC2 Intrinsically Disordered Protein.

Biophysical journal·2026

Circular RNAs as central regulators of RNA stability.

Trends in genetics : TIG·2026

Association between circadian syndrome and frailty progression among middle-aged and older adults in China: A longitudinal study based on CHARLS.

Experimental gerontology·2026

Related Experiment Videos

Congenital muscular dystrophy: from rags to riches

Related Concept Videos

Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.

Respiratory management in spinal muscular atrophy: development of a global outcome measure.

Assessing disease progression in spinal muscular atrophy, current gaps, and opportunities: a narrative review.

Mortality of symptomatic children with spinal muscular atrophy in the era of disease-modifying therapies.

Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping.

A new respiratory scoring system for evaluation of respiratory outcomes in children with spinal muscular atrophy type1 (SMA1) on SMN enhancing drugs.

Carotid Artery Stenting Is Now an Evidence-Based Adjunct to Intensive Medical Therapy for Stroke Prevention.

Autonomic Network Signatures of Interictal Cardiorespiratory Dysfunction in Patients With Temporal Lobe Epilepsy.

Evaluation of Disease Severity Using CSF Biomarkers in Patients With Probable Cerebral Amyloid Angiopathy.

Repairing the Amyotrophic Lateral Sclerosis Trial Credibility Gap.

Association Between Immigration Status and the Intensity of Acute Stroke Care in Ontario, Canada: A Retrospective Study.

Gestational Changes in Antiseizure Medication Concentrations and the Impact of Polytherapy: A Prospective Multicenter Cohort Study in China.

Loss of SUMOylation drives aberrant PRC1 clustering and 3D genome rewiring independent of H3K27me3.

Hyponatremia as the Initial Presentation of Rathke's Cleft Cyst-Related Hypopituitarism.

Crystal structure of seladelpar, C21H23F3O5S, from synchrotron powder diffraction data and density functional theory.

A Biophysical Hypothesis for Compartment-Specific Conformational States of the IQSEC2 Intrinsically Disordered Protein.

Circular RNAs as central regulators of RNA stability.

Association between circadian syndrome and frailty progression among middle-aged and older adults in China: A longitudinal study based on CHARLS.

Related Experiment Videos

Congenital muscular dystrophy: from rags to riches

Related Concept Videos

Related Articles