Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
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
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
Libby Wood
Dr Isabell Cordts
Dr Jose Atalaia
Dr Chiara Marini Bettolo
Professor Volker Straub
et al.
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research2017
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
Fumi Takeuchi
Sunil Rodger
Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Harumasa Nakamura
et al.
A comparative study of care and support for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis2016
Dr Rita Barresi
Professor Volker Straub
Professor Hanns Lochmuller
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy2016
Professor Annemieke Aartsma-Rus
Professor Volker Straub
Professor Hanns Lochmuller
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy2016
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