Publications by Dr Andreas Roos - ePrints

Browsing publications by Dr Andreas Roos.

Newcastle Authors	Title	Year
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
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
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
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
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 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
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
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
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
Dr Andreas Roos	JAK inhibitor improves type i interferon induced damage: Proof of concept in dermatomyositis	2018
Stephanie Carr Professor Hanns Lochmuller Dr Andreas Roos	Mass spectrometry-based protein analysis to unravel the tissue pathophysiology in Duchenne muscular dystrophy	2018
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
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
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
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
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
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
Stephanie Carr Dr Andreas Roos	Tracking Effects of SIL1 Increase: Taking a Closer Look Beyond the Consequences of Elevated Expression Level	2018
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
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
Dr Andreas Roos	Muscle Pathology as a diagnostic clue to Allgrove syndrome	2017
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 Impairment	2017
Dr Andreas Roos	Quantifying Missing (Phospho)Proteome Regions with the Broad-Specificity Protease Subtilisin	2017
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
Jose Gonzalez Coraspe Dr Andreas Roos	Sil1-Mutant Mice Elucidate Chaperone Function in Neurological Disorders	2016
Dr Andreas Roos	Coordination of growth factor receptor trafficking and cell proliferation by SH3TC2, a protein involved in Charcot-Marie-Tooth neuropathy	2016
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
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
Dr Mojgan Reza Dr Steven Laval Dr Andreas Roos Professor Hanns Lochmuller	Optimization of Internally Deleted Dystrophin Constructs	2016
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
Stephanie Carr Morten Ritso Dr Andreas Roos Dr Steven Laval Professor Hanns Lochmuller et al.	Reversing mdx cardiomyocyte hypertrophy in vitro	2016