Browsing publications by Dr Juliane Mueller

Newcastle AuthorsTitleYear
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
Dr Amina Chaouch
Dr Juliane Mueller
Professor Hanns Lochmuller
Congenital Myasthenic Syndromes: Achievements and Limitations of Phenotype-Guided Gene-After-Gene Sequencing in Diagnostic Practice: A Study of 680 Patients2012
Dr Alasdair Wood
Dr Juliane Mueller
Dr Steven Laval
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.
Investigating basement membranes in FKRP and fukutin deficient zebrafish2012
Matias Wagner
Dr Steven Laval
Dr Juliane Mueller
Dr Hacer Durmus
Professor Hanns Lochmuller
et al.
Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy2012
Dr Alasdair Wood
Dr Juliane Mueller
Catherine Jepson
Dr Steven Laval
Professor Hanns Lochmuller
et al.
Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency2011
Dr Amina Chaouch
Dr Juliane Mueller
Professor Hanns Lochmuller
Genetic heterogeneity and pathophysiological mechanisms in congenital myasthenic syndromes.2011
Dr Juliane Mueller
Dr Steven Laval
Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect2011
Catherine Jepson
Dr Steven Laval
Professor Katherine Bushby
Professor Hanns Lochmuller
Dr Rita Barresi
et al.
Abnormal angiogenesis in zebrafish models for FKRP and fukutin deficiency2010
Dr Juliane Mueller
Catherine Jepson
Dr Steven Laval
Professor Katherine Bushby
Professor Volker Straub
et al.
Dok-7 promotes slow muscle integrity as well as neuromuscular junction formation in a zebrafish model of congenital myasthenic syndromes2010
Dr Hacer Durmus
Dr Juliane Mueller
Professor Hanns Lochmuller
Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations2010
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