Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Dr Mojgan Reza
Dr Steven Laval
Professor Hanns Lochmuller
Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy2016
Dr Simon Woods
Dr Pauline McCormack
Professor Hanns Lochmuller
Professor Volker Straub
Improving the informed consent process in international collaborative rare disease research: Effective consent for effective research2016
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Professor Katherine Bushby
Quantifying the burden of caregiving in Duchenne muscular dystrophy2016
Professor Hanns Lochmuller
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome2015
Dr Marta Bertoli
Dr Ana Topf
Dr Lizzie Harris
Dr Steven Laval
Dr Anna Sarkozy
et al.
A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism2015
Dr Lizzie Harris
Professor Katherine Bushby
Professor Hanns Lochmuller
Professor Volker Straub
Dr Rita Barresi
et al.
A novel STIM1 mutation at p.340 causes tubular aggregate myopathy with miosis without additional features of Stormorken syndrome2015
Sunil Rodger
Dr Catherine Bladen
Professor Katherine Bushby
Professor Hanns Lochmuller
Adult care for Duchenne muscular dystrophy in the UK2015
Dr Anna Mayhew
Dr Michelle Eagle
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Development and Psychometric Analysis of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (DMDSAT)2015
Dr Anna Sarkozy
Dr Rita Barresi
Dr Marta Bertoli
Professor Katherine Bushby
Professor Hanns Lochmuller
et al.
Eight novel UK families further expand current knowledge on GMPPB-gene related dystroglycanopathies2015
Dr Roger Whittaker
Dr Boglarka Bansagi
Professor Rita Horvath
Professor Hanns Lochmuller
Electrophysiologic features of SYT2 mutations causing a treatable neuromuscular syndrome2015
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