Dr Ana Topf
Professor Hanns Lochmuller
| The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations | 2026 |
|
Dr Charlotte Alston
Professor Robert Taylor
Professor Hanns Lochmuller
| Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome | 2025 |
|
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Ana Topf
Professor Volker Straub
| Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets | 2025 |
|
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Hanns Lochmuller
Professor Volker Straub
Dr Christina Trainor
et al. | Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses | 2025 |
|
Dr Andreas Roos
Dr Oksana Pogoryelova
Dr Sally Spendiff
Professor Hanns Lochmuller
| Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy | 2024 |
|
Dr Ana Topf
Professor Rita Horvath
Professor Hanns Lochmuller
Dr Andreas Roos
| A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function | 2023 |
|
Dr Andreas Roos
Dr Hadil Alrohaif
Dr Rita Barresi
Dr Ana Topf
Dr Teresinha Evangelista
et al. | Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects | 2023 |
|
Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Professor Grainne Gorman
Gabriella-Denisa Hathazi
Dr Sally Spendiff
et al. | Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 1 | 2023 |
|
Professor Grainne Gorman
Professor Hanns Lochmuller
| Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights | 2022 |
|
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
| Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects | 2022 |
|
Professor Hanns Lochmuller
Dr Oksana Pogoryelova
| A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy | 2021 |
|
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
| Molecular pathophysiology of human MICU1 deficiency | 2021 |
|
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Oksana Pogoryelova
| Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy | 2021 |
|
Professor Hanns Lochmuller
Dr Ana Topf
Professor Rita Horvath
| COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children | 2020 |
|
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al. | A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features | 2020 |
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