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Browsing publications by Dr Andreas Roos.

Newcastle AuthorsTitleYearFull text
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects2022
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Molecular pathophysiology of human MICU1 deficiency2021
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 deficiency2020
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 Syndrome2020
Dr Ana Topf
Sunitha Balaraju
Rachel Thompson
Dr Andreas Roos
Professor Hanns Lochmuller
et al.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant2020
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 20182019
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
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 human2019
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 syndromes2018
Dr Sally Spendiff
Emeritus Professor Clarke Slater
Dr Andreas Roos
Professor Hanns Lochmuller
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice2018
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 strategies2018
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 Diseases2018
Dr Andreas Roos
JAK inhibitor improves type i interferon induced damage: Proof of concept in dermatomyositis2018
Stephanie Carr
Professor Hanns Lochmuller
Dr Andreas Roos
Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy2018
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 disease2018
Dr Boglárka Bánsági
Dr 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 mutation2018
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 neurons2018
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 secretion2018
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 4C2018
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 syndromes2018
Stephanie Carr
Dr Andreas Roos
Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level2018
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 syndromes2017
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 worldwide2017
Dr Andreas Roos
Muscle Pathology as a diagnostic clue to Allgrove syndrome2017
Dr Andreas Roos
Daniel Cox
Dr 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 Impairment2017
Dr Andreas Roos
Quantifying Missing (Phospho)Proteome Regions with the Broad-Specificity Protease Subtilisin2017
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 proteins2017
Jose Gonzalez Coraspe
Dr Andreas Roos
Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders2016
Dr Andreas Roos
Coordination of growth factor receptor trafficking and cell proliferation by SH3TC2, a protein involved in Charcot-Marie-Tooth neuropathy2016
Dr Andreas Roos
Molecular and morphological signature of Schwann cells adhered to a nerve guide: a closer look on biochemical processes during nerve regeneration2016
Dr Andreas Roos
Daniel Cox
Dr Mojgan Reza
Dr Michela Guglieri
Professor Volker Straub
et al.
MRC biobank Newcastle - A five-year review of the John Walton Muscular Dystrophy Research Centre experience2016
Dr Mojgan Reza
Dr Steven Laval
Dr Andreas Roos
Professor Hanns Lochmuller
Optimization of Internally Deleted Dystrophin Constructs2016
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 exchange2016
Stephanie Carr
Morten Ritso
Dr Andreas Roos
Dr Steven Laval
Professor Hanns Lochmuller
et al.
Reversing mdx cardiomyocyte hypertrophy in vitro2016