Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
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
Dr Ana Topf
Daniel Cox
Dr Teresinha Evangelista
Dr Steven Laval
Professor Hanns Lochmuller
et al.
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome2016
Dr Teresinha Evangelista
Dr Ana Topf
Professor Hanns Lochmuller
Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations2016
Dr Marta Bertoli
Dr Ana Topf
Dr Lizzie Harris
Dr Steven Laval
Dr Anna Sarkozy
et al.
A novel mutation in PIEZO2 in a family presenting with autosomal dominant myopathy, ptosis, external ophthalmoplegia and distal symphalangism2015
Dr Ana Topf
Professor Judith Goodship
Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation2015
Dr Richard Howey
Valentina Mamasoula
Dr Ana Topf
Professor Judith Goodship
Professor Bernard Keavney
et al.
Increased power for detection of parent-of-origin effects via the use of haplotype estimation2015
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 Ana Topf
Dr Teresinha Evangelista
Professor Hanns Lochmuller
Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect2014
Dr Ana Topf
Dr Helen Griffin
Dr Elise Glen
Rachel Soemedi
Dr Danielle Brown
et al.
Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot2014
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