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A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

Basil T. Darras
Uta Francke
Research08 Oct 1987
Nature

Volume: 329, P: 556-558
Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1

This study identifies molecular pathogenesis in the kidney of myotonic dystrophy type 1 (DM1). The authors reveal downregulated metabolism genes in urinary extracellular vesicles (EVs) and kidney tissue, with elevated urine metabolites, suggesting urinary EVs as indicators of renal and metabolic disturbance.

Preeti Kumari
Lauren M. Sullivan
Thurman M. Wheeler
ResearchOpen Access05 Mar 2025
Nature Communications

Volume: 16, P: 1-18
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies

Patients with myotonic dystrophy need to undergo invasive muscle biopsies to monitor disease progression and response to therapy. Here, the authors show that extracellular RNAs in human urine can be used as biomarkers to differentiate patients from unaffected controls, and to monitor exon skipping in patients with Duchenne muscular dystrophy taking the drug eteplirsen.

Layal Antoury
Ningyan Hu
Thurman M. Wheeler
ResearchOpen Access25 Sept 2018
Nature Communications

Volume: 9, P: 1-16
Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome

R Rodney Howell
Barry Byrne
Ans van der Ploeg
Research01 May 2006
Genetics in Medicine

Volume: 8, P: 289-296
Spinal muscular atrophy

Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by mutations in the survival motor neuron 1 (SMN1) gene. In this Primer, Mercuri et al. discuss the epidemiology, aetiology, diagnosis and screening, and treatment of SMA and its effect on patients’ lives.

Eugenio Mercuri
Charlotte J. Sumner
Richard S. Finkel
Reviews04 Aug 2022
Nature Reviews Disease Primers

Volume: 8, P: 1-16
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

Hemakumar M Reddy
Kyung-Ah Cho
Peter B Kang
Research06 Oct 2016
Journal of Human Genetics

Volume: 62, P: 243-252

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A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male

Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1

Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies

Diagnostic challenges for Pompe disease: An under-recognized cause of floppy baby syndrome

Spinal muscular atrophy

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

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