Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Professor Hanns Lochmuller
Dr Roger Whittaker
Professor Rita Horvath
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome2017
Fumi Takeuchi
Sunil Rodger
Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Harumasa Nakamura
et al.
A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis2017
Dr Ingrid Verhaart
Agata Robertson
Becca Leary
Dr Grace McMacken
Professor Hanns Lochmuller
et al.
A multi-source approach to determine SMA incidence and research ready population2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
Dr German Moris
Libby Wood
Roberto Fernandez-Torron
Dr Adela Cora
Dr Fiona Norwood
et al.
Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.
Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Grace McMacken
Dr Roger Whittaker
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Cecilia Jimenez Moreno
Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Dr Jose Atalaia
Dr Michela Guglieri
et al.
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)2017
Dr Boglárka Bánsági
Dr Helen Griffin
Dr Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
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