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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure2019
Gabriella-Denisa Hathazi
Professor Rita Horvath
Dr Ana Topf
Identification of cellular pathogenicity markers for SIL1 mutations linked to marinesco-sjögren syndrome2019
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
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