Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Sunil Rodger
Dr Catherine Bladen
Professor Katherine Bushby
Professor Hanns Lochmuller
Adult care for Duchenne muscular dystrophy in the UK2015
Dr Boglarka Bansagi
Professor Hanns Lochmuller
Professor Patrick Chinnery
Professor Rita Horvath
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland2015
Sebastian Figueroa Bonaparte
Dr Rita Barresi
Dr Tuomo Polvikoski
Dr Timothy Williams
Dr Ana Topf
et al.
Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK2015
Dr Teresinha Evangelista
Dr Boglarka Bansagi
Dr Angela Pyle
Dr Helen Griffin
Dr Konstantinos Douroudis
et al.
Phenotypic variability of TRPV4 related neuropathies2015
Dr Catherine Bladen
Professor Volker Straub
Professor Katherine Bushby
Professor Annemieke Aartsma-Rus
Professor Hanns Lochmuller
et al.
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations2015
Dr Veronika Boczonadi
Dr Angela Pyle
Dr Boglarka Bansagi
Marie Appleton
Professor Hanns Lochmuller
et al.
ANO10 mutations cause ataxia and coenzyme Q10 deficiency2014
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
Yasmin Issop
Daniel Cox
Dr Juliane Mueller
Dr Teresinha Evangelista
et al.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy2014
Dr Ana Topf
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect2014
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