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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
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
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
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Professor Hanns Lochmuller
Professor Katherine Bushby
et al.		A 'second truncation' in TTN causes early onset recessive muscular dystrophy2017
Dr Lizzie Harris
Dr Umar Burki
Dr Chiara Marini Bettolo
Dr Marta Bertoli
Dr Teresinha Evangelista
et al.		Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains2017
Dr Katherine Johnson
Lauren Phillips
Dr Ana Topf
Professor Volker Straub
Corrigendum to "A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy" [Neuromuscular disorders 27/11 (2017) 1043-1046]2017
Dr Lizzie Harris
Dr Ana Topf
Dr Rita Barresi
Dr Debbie Hicks
Dr Anna Porter
et al.		Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy2017
Dr Katherine Johnson
Dr Ana Topf
Dr Marta Bertoli
Lauren Phillips
Professor Volker Straub
et al.		Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness2017
Dr Ana Topf
Professor Volker Straub
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing2017
Dr Yoshiteru Azuma
Dr Ana Topf
Dr Teresinha Evangelista
Dr Paulo Lorenzoni
Dr Andreas Roos
et al.		Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes2017
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