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Browsing publications by Dr Juliane Mueller.

Newcastle AuthorsTitleYearFull text
Benjamin Munro
Professor Rita Horvath
Dr Juliane Mueller
Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok −/− zebrafish2019
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
Marina Bartsakoulia
Dr Juliane Mueller
Dr Aurora Gomez Duran
Dr Patrick Yu Wai Man
Dr Veronika Boczonadi
et al.
Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies2016
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
Professor 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 Juliane Mueller
Dr Michele Giunta
Professor Rita Horvath
Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases2015
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
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
Emerita 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
Emerita Professor Katherine Bushby
Professor Volker Straub
Professor Hanns Lochmuller
et al.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect2011
Catherine Jepson
Dr Steven Laval
Emerita 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
Emerita 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
Dr Paulo Lorenzoni
Dr Juliane Mueller
Professor Hanns Lochmuller
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil2010
Professor Volker Straub
Dr Juliane Mueller
Professor Hanns Lochmuller
Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations2009
Dr Juliane Mueller
Professor Hanns Lochmuller
Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes2009
Dr Lars Klinge
Dr Richard Charlton
Dr Juliane Mueller
Dr Louise VB Anderson
Professor Volker Straub
et al.
Late onset in dysferlinopathy widens the clinical spectrum2008
Dr Juliane Mueller
Professor Hanns Lochmuller
Congenital myasthenic syndromes: Spotlight on genetic defects of neuromuscular transmission2007
Dr Peter Fawcett
Dr Juliane Mueller
Professor Hanns Lochmuller
Emeritus Professor Clarke Slater
Dok-7 mutations underlie a neuromuscular junction synaptopathy2006
Dr Juliane Mueller
Professor Hanns Lochmuller
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations2006
Dr Juliane Mueller
Professor Hanns Lochmuller
Unusual features in a boy with the rapsyn N88K mutation2006
Dr Juliane Mueller
Dr Christoph Schmidt
Professor Hanns Lochmuller
An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome2005
Dr Juliane Mueller
Professor Hanns Lochmuller
An Iranian family with congenital myasthenic syndrome caused by a novel acetylcholine receptor mutation (CHRNE K171X)2005
Dr Juliane Mueller
Professor Hanns Lochmuller
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical CHAT mutations in two infants2005
Dr Juliane Mueller
Professor Hanns Lochmuller
Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene2004