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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
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
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