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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Rachel Thompson
Dr Ana Topf
Dr Paolo Missier
Professor Hanns Lochmuller
Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder2019
Dr Ana Topf
MACF1 links rapsyn to microtubule- and actin-binding proteins to maintain neuromuscular synapses2019
Dr Ana Topf
Professor Volker Straub
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
Dr Teresinha Evangelista
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain2019
Dr Lizzie Harris
Dr Chiara Marini Bettolo
Dr Ana Topf
Dr Rita Barresi
Dr Tuomo Polvikoski
et al.
MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes2018
Dr Ana Topf
Professor Hanns Lochmuller
A common CHRNE mutation in Brazilian patients with congenital myasthenic syndrome2018
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair2018
Emily O'Connor
Dr Ana Topf
Dr Sally Spendiff
Daniel Cox
Dr Andreas Roos
et al.
Clinical and research strategies for limb-girdle congenital myasthenic syndromes2018
Dr Katherine Johnson
Dr Marta Bertoli
Lauren Phillips
Dr Ana Topf
Roberto Fernandez-Torron
et al.
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness2018
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Phillips
Dr James Miller
et al.
Extending the clinical and mutational spectrum of TRIM32-related myopathies in a non-Hutterite population2018
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