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 |
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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 |
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Dr Ana Topf Professor Hanns Lochmuller Professor Rita Horvath Dr Andreas Roos
| Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects | 2022 |
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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 |
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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 |
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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 |
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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 |
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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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Dr Oksana Pogoryelova Jose Gonzalez Coraspe Dr Nikoletta Nikolenko Professor Hanns Lochmuller Dr Andreas Roos et al. | GNE myopathy: From clinics and genetics to pathology and research strategies | 2018 |
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Dr Andreas Roos Rachel Thompson Professor Rita Horvath Professor Hanns Lochmuller
| Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases | 2018 |
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Dr Andreas Roos
| JAK inhibitor improves type i interferon induced damage: Proof of concept in dermatomyositis | 2018 |
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Stephanie Carr Professor Hanns Lochmuller Dr Andreas Roos
| Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy | 2018 |
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Dr Veronika Boczonadi Dr Monika Olahova Dr Boglarka Bansagi Dr Andreas Roos Dr Vankateswara Ramesh et al. | Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease | 2018 |
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Dr Boglárka Bánsági Professor Mark Baker Matt Jennings Professor Roger Whittaker Dr Jennifer Duff et al. | Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation | 2018 |
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Dr Veronika Boczonadi Dr Helen Griffin Dr Andreas Roos Marina Bartsakoulia Dr Boglarka Bansagi et al. | Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons | 2018 |
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Emily O'Connor Dr Isabell Cordts George Cairns Daniel Cox Professor Hanns Lochmuller et al. | MYO9A deficiency in motor neurons is associated with reduced neuromuscular agrin secretion | 2018 |
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Silvia Cipriani Professor Rita Horvath Professor Hanns Lochmuller Dr Andreas Roos Dr Sally Spendiff et al. | Neuromuscular junction changes in a mouse model of charcot-marie-tooth disease type 4C | 2018 |
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Dr Grace McMacken Daniel Cox Dr Andreas Roos Professor Roger Whittaker Professor Hanns Lochmuller et al. | The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes | 2018 |
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Stephanie Carr Dr Andreas Roos
| Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level | 2018 |
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Dr Yoshiteru Azuma Dr Ana Topf Dr Teresinha Evangelista Dr Paulo Lorenzoni Dr Andreas Roos et al. | Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes | 2017 |
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Dr Mojgan Reza Daniel Cox Lauren Phillips Michael Grieves Rebecca Crow et al. | MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide | 2017 |
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Dr Andreas Roos
| Muscle Pathology as a diagnostic clue to Allgrove syndrome | 2017 |
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Dr Andreas Roos Daniel Cox Professor Chiara Marini Bettolo Dr Rita Barresi Dr Richard Charlton et al. | Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment | 2017 |
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Dr Andreas Roos
| Quantifying Missing (Phospho)Proteome Regions with the Broad-Specificity Protease Subtilisin | 2017 |
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Dr Andreas Roos
| The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins | 2017 |
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Jose Gonzalez Coraspe Dr Andreas Roos
| Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders | 2016 |
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Dr Andreas Roos
| Coordination of growth factor receptor trafficking and cell proliferation by SH3TC2, a protein involved in Charcot-Marie-Tooth neuropathy | 2016 |
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Dr Andreas Roos
| Molecular and morphological signature of Schwann cells adhered to a nerve guide: a closer look on biochemical processes during nerve regeneration | 2016 |
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Dr Andreas Roos Daniel Cox Dr Mojgan Reza Professor Michela Guglieri Professor Volker Straub et al. | MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience | 2016 |
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Dr Mojgan Reza Dr Steven Laval Dr Andreas Roos Professor Hanns Lochmuller
| Optimization of Internally Deleted Dystrophin Constructs | 2016 |
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Dr Andreas Roos Rachel Thompson Professor Volker Straub Professor Hanns Lochmuller
| RD-Connect: Data sharing and analysis for rare disease research within the integrated platform and through GA4GH beacon and matchmaker exchange | 2016 |
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Stephanie Carr Morten Ritso Dr Andreas Roos Dr Steven Laval Professor Hanns Lochmuller et al. | Reversing mdx cardiomyocyte hypertrophy in vitro | 2016 |
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