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Publications

Novel free-circulating and extracellular vesicle-derived miRNAs dysregulated in Duchenne muscular dystrophy.

Catapano F. et al, (2020), Epigenomics, 12, 1899 - 1915

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A. et al, (2020), Genet Med, 22, 1478 - 1488

Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population.

Johnson K. et al, (2019), J Neurol Neurosurg Psychiatry, 90, 490 - 493

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.

Johnson K. et al, (2018), Skelet Muscle, 8

Downregulation of miRNA-29, -23 and -21 in urine of Duchenne muscular dystrophy patients.

Catapano F. et al, (2018), Epigenomics, 10, 875 - 889

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST. et al, (2018), J Neurol Neurosurg Psychiatry, 89, 506 - 512

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K. et al, (2017), Orphanet J Rare Dis, 12

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.

Van den Bergh PYK. et al, (2017), Neuromuscul Disord, 27, 1043 - 1046

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide.

Reza M. et al, (2017), Neuromuscul Disord, 27, 1054 - 1064

A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.

Perić S. et al, (2017), Eur J Hum Genet, 25, 572 - 581

Include forthcoming?