Publications by Dr Juliane Mueller - ePrints

Browsing publications by Dr Juliane Mueller.

Newcastle Authors	Title	Year
Benjamin Munro Professor Rita Horvath Dr Juliane Mueller	Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok ^−/− zebrafish	2019
Dr Andreas Roos Daniel Cox Professor 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 Impairment	2017
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 inhibitors	2016
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 Deficiencies	2016
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 syndrome	2016
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) mutation	2016
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 neurons	2016
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 neurons	2016
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 deficiencies	2016
Dr Juliane Mueller Dr Michele Giunta Professor Rita Horvath	Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases	2015
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 hypoplasia	2014
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 atrophy	2014
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 test	2013
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 Patients	2012
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 zebrafish	2012
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 myopathy	2012
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 deficiency	2011
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 defect	2011
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 deficiency	2010
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 syndromes	2010
Dr Hacer Durmus Dr Juliane Mueller Professor Hanns Lochmuller	Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations	2010
Dr Paulo Lorenzoni Dr Juliane Mueller Professor Hanns Lochmuller	Molecular characterisation of congenital myasthenic syndromes in Southern Brazil	2010
Professor Volker Straub Dr Juliane Mueller Professor Hanns Lochmuller	Ephedrine therapy in eight patients with congenital myasthenic syndrome due to DOK7 mutations	2009
Dr Juliane Mueller Professor Hanns Lochmuller	Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes	2009
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 spectrum	2008
Dr Juliane Mueller Professor Hanns Lochmuller	Congenital myasthenic syndromes: Spotlight on genetic defects of neuromuscular transmission	2007
Dr Peter Fawcett Dr Juliane Mueller Professor Hanns Lochmuller Emeritus Professor Clarke Slater	Dok-7 mutations underlie a neuromuscular junction synaptopathy	2006
Dr Juliane Mueller Professor Hanns Lochmuller	Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations	2006
Dr Juliane Mueller Professor Hanns Lochmuller	Unusual features in a boy with the rapsyn N88K mutation	2006
Dr Juliane Mueller Dr Christoph Schmidt Professor Hanns Lochmuller	An intronic base alteration of the CHRNE gene leading to a congenital myasthenic syndrome	2005
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 infants	2005
Dr Juliane Mueller Professor Hanns Lochmuller	Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene	2004