Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Dr Juliane Mueller
Dr Teresinha Evangelista
Dr Ana Topf
Professor Hanns Lochmuller
KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors2016
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 Mattia Calissano
Professor Hanns Lochmuller
Professor Annemieke Aartsma-Rus
Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients2016
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 Teresinha Evangelista
Dr Ana Topf
Professor Hanns Lochmuller
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations2016
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Professor Katherine Bushby
Quantifying the burden of caregiving in Duchenne muscular dystrophy2016
Dr Pauline McCormack
Professor Hanns Lochmuller
'You should at least ask'. The expectations, hopes and fears of rare disease patients on large-scale data and biomaterial sharing for genomics research2016
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
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