Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYear
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Professor Katherine Bushby
et al.
Quantitative Magnetic Resonance Imaging in Limb-Girdle Muscular Dystrophy 2I: A Multinational Cross-Sectional Study2014
Dr Gerald Pfeffer
Dr Rita Barresi
Dr Ian Wilson
Dr Steven Hardy
Dr Helen Griffin
et al.
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure2014
Dr Debbie Hicks
Dr Steven Laval
Professor Hanns Lochmuller
Congenital myasthenic syndromes due to mutations in ALG2 and ALG142013
Dr Amina Chaouch
Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
Expanding the Clinical Phenotype of Agrin-Associated Congenital Myasthenic Syndrome2013
Sally Spendiff
Dr Julie Murphy
Dr Grainne Gorman
Professor Robert Taylor
Professor Rita Horvath
et al.
Mitochondrial DNA deletions in muscle satellite cells: implications for therapies2013
Dr Debbie Hicks
Dr Steven Laval
Dr Anna Sarkozy
Elena Martoni
Professor Hanns Lochmuller
et al.
Mutations in the Collagen XII gene define a new form of extracellular matrix related myopathy2013
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
Dr Tracey Willis
Dr Kieren Hollingsworth
Dr Michelle Eagle
Dr Anna Mayhew
Professor Katherine Bushby
et al.
Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study2013
Dr Amina Chaouch
Professor Hanns Lochmuller
Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation2013
Dr Kieren Hollingsworth
Dr Tracey Willis
Dr Matt Bates
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
Subepicardial dysfunction leads to global left ventricular systolic impairment in patients with limb girdle muscular dystrophy 2I2013
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