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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 Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Jane Newman
Jassi Sodhi
Dr Grainne Gorman
et al.
Analysis of the functional capacity outcome measures for myotonic dystrophy2019
Dr Anna Mayhew
Roberto Fernandez-Torron
Dr Michelle Eagle
Karen Bettinson
Professor Andrew Blamire
et al.
Assessment of disease progression in dysferlinopathy – a 1 year cohort study2019
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation2019
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
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
Rachel Thompson
Dr Ana Topf
Dr Paolo Missier
Professor Hanns Lochmuller
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder2019
Giulia Ricci
Phillip Cammish
Professor Hanns Lochmuller
Dr Teresinha Evangelista
Phenotype may predict the clinical course of facioscapolohumeral muscular dystrophy2019
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