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Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Dr Oksana Pogoryelova
Dr Ian Wilson
Professor Hanns Lochmuller
GNE genotype explains 20% of phenotypic variability in GNE myopathy2019
Dr Anna Mayhew
Roberto Fernandez-Torron
Dr Michelle Eagle
Karen Bettinson
Professor Andrew Blamire
et al.
Assessment of disease progression in dysferlinopathy – a one year cohort study2019
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
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes2018
Rebecca Crow
Professor Elaine McColl
Dr Jennifer Wilkinson
Dr Michelle Eagle
Professor Hanns Lochmuller
et al.
A checklist for clinical trials in rare disease: obstacles and anticipatory actions—lessons learned from the FOR-DMD trial2018
Dr Ana Topf
Professor Hanns Lochmuller
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome2018
Rachel Thompson
Professor Hanns Lochmuller
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era2018
Marina Bartsakoulia
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
Dr Veronika Boczonadi
et al.
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies2018
Dr Cecilia Jimenez Moreno
Dr Sarah Charman
Dr Nikoletta Nikolenko
Maxwell Larweh
Dr Grainne Gorman
et al.
Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy2018
Libby Wood
Dr Nikoletta Nikolenko
Professor Hanns Lochmuller
Benign and malignant tumors in the UK myotonic dystrophy patient registry2018
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