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Browsing publications by Dr Juliane Mueller

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 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
Emily O'Connor
Dr Ana Topf
Dr Juliane Mueller
Daniel Cox
Dr Teresinha Evangelista
et al.
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome2016
Dr Boglarka Bansagi
Dr John O'Sullivan
Dr Juliane Mueller
Dr Jennifer Duff
Dr Grainne Gorman
et al.
Multifocal motor neuropathy caused by phosphatase and tensin homologue (PTEN) mutation2016
Dr Veronika Boczonadi
Marina Bartsakoulia
Dr Boglarka Bansagi
Dr Francesco Bruni
Dr Juliane Mueller
et al.
Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons2016
Dr Veronika Boczonadi
Marina Bartsakoulia
Dr Boglarka Bansagi
Dr Francesco Bruni
Dr Juliane Mueller
et al.
Mutations in glycyl-tRNA-synthetase impair mitochondrial function in neurons2016
Marina Bartsakoulia
Dr Juliane Mueller
Dr Aurora Gomez Duran
Dr Veronika Boczonadi
Professor Rita Horvath
et al.
Supplementation with L-cysteine improves mitochondrial protein synthesis in a subgroup of mitochondrial translation deficiencies2016
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
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
Matias Wagner
Dr Amina Chaouch
Dr Juliane Mueller
Dr Tuomo Polvikoski
Dr Tracey Willis
et al.
Presymptomatic late-onset Pompe disease identified by the dried blood spot test2013
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