Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Dr Jose Atalaia
Dr Michela Guglieri
Professor Hanns Lochmuller
et al.
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA)2017
Dr Boglarka Bansagi
Dr Helen Griffin
Dr Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
Professor Hanns Lochmuller
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases2017
Dr Yoshiteru Azuma
Dr Ana Topf
Dr Teresinha Evangelista
Dr Paulo Lorenzoni
Dr Andreas Roos
et al.
Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes2017
Dr Andreas Roos
Daniel Cox
Dr Chiara Marini Bettolo
Dr Rita Barresi
Dr Richard Charlton
et al.
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment2017
Dr Lizzie Harris
Dr Rita Barresi
Dr Chiara Marini Bettolo
Dr Ana Topf
Professor Volker Straub
et al.
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion2017
Dr Oksana Pogoryelova
Dr Michela Guglieri
Dr Chiara Marini Bettolo
Professor Volker Straub
Dr Teresinha Evangelista
et al.
Reduced serum myostatin concentrations associated with genetic muscle disease progression2017
Libby Wood
Dr Chiara Marini Bettolo
Dr Michela Guglieri
Dr Grace McMacken
Dr Anna Mayhew
et al.
Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy2017
Dr Louise Jorgensen
Professor Hanns Lochmuller
SPARC Interacts with Actin in Skeletal Muscle in Vitro and in Vivo2017
Professor Patrick Chinnery
Professor Hanns Lochmuller
Professor Volker Straub
Rachel Thompson
Catherine Turner
et al.
The Human Phenotype Ontology in 20172017
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