Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYear
Dr Veronika Boczonadi
Dr Juliane Mueller
Dr Angela Pyle
Dr Jennifer Munkley
Michele Giunta
et al.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia2014
Dr Amina Chaouch
Professor Hanns Lochmuller
Professor Katherine Bushby
Professor Volker Straub
Affinity proteomics within rare diseases: a BIO-NMD study for blood biomarkers of muscular dystrophies2014
Dr Amina Chaouch
Professor Hanns Lochmuller
Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the alpha-epsilon subunit interface2014
Dr Amina Chaouch
Dr Michela Guglieri
Professor Volker Straub
Professor Hanns Lochmuller
Fibronectin is a serum biomarker for Duchenne muscular dystrophy2014
Dr Pauline McCormack
Dr Simon Woods
Professor Hanns Lochmuller
International Charter of principles for sharing bio-specimens and data2014
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
Professor Rita Horvath
Dr Roger Whittaker
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Veronika Boczonadi
et al.
Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy2014
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
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