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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 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 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
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation2019
Dr Nikoletta Nikolenko
Dr Cecilia Jimenez Moreno
Dr Grainne Gorman
Professor Hanns Lochmuller
Disease burden of myotonic dystrophy type 12019
Dr Cecilia Jimenez Moreno
Professor Hanns Lochmuller
Health-Related Quality of Life in Adult-onset Myotonic Dystrophy type 1: A systematic review2019
Giulia Ricci
Phillip Cammish
Professor Hanns Lochmuller
Dr Teresinha Evangelista
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy2019
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
Rachel Thompson
Dr Paolo Missier
Professor Hanns Lochmuller
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome2019
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