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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern2020
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy2019
Dr Katherine Johnson
Dr Ana Topf
Professor Volker Straub
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure2019
Dr Ana Topf
Dr Katherine Johnson
Professor Volker Straub
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein2019
Sunitha Balaraju
Dr Ana Topf
Dr Grace McMacken
Professor Robert Taylor
Professor Rita Horvath
et al.		Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant2019
Dr Ana Topf
Dihydropyridine Receptor Congenital Myopathy in A Consangineous Turkish Family2019
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 population2019
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
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