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 |
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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 |
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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 |
|
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
| Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects | 2022 |
|
Dr Ana Topf
Dr Angela Pyle
Dr Helen Griffin
Professor Patrick Chinnery
Dr Andreas Roos
et al. | Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) | 2021 |
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Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
| Molecular pathophysiology of human MICU1 deficiency | 2021 |
|
Dr Helen Griffin
Dr Michele Giunta
Benjamin Munro
Dr Wei Wei
Dr Veronika Boczonadi
et al. | Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency | 2020 |
|
Dr Sally Spendiff
Rachel Howarth
Dr Grace McMacken
Tracey Davey
Dr Andreas Roos
et al. | Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome | 2020 |
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Dr Ana Topf
Sunitha Balaraju
Rachel Thompson
Dr Andreas Roos
Professor Hanns Lochmuller
et al. | Severe neurodevelopmental disease caused by a homozygous TLK2 variant | 2020 |
|
Dr Oksana Pogoryelova
Professor Hanns Lochmuller
Dr Andreas Roos
Dr Verena Willenbockel
| 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018 | 2019 |
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Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al. | Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251) | 2019 |
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Daniel Cox
Silvia Cipriani
Dr Sally Spendiff
Emily O'Connor
Professor Rita Horvath
et al. | SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human | 2019 |
|
Emily O'Connor
Dr Ana Topf
Dr Sally Spendiff
Daniel Cox
Dr Andreas Roos
et al. | Clinical and research strategies for limb-girdle congenital myasthenic syndromes | 2018 |
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Dr Sally Spendiff
Emeritus Professor Clarke Slater
Dr Andreas Roos
Professor Hanns Lochmuller
| GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice | 2018 |
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