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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Professor Hanns Lochmuller
Dr Ana Topf
Professor Rita Horvath
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children2020
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
Professor Volker Straub
Dr Ana Topf
Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity2020
Dr Lindsay Murphy
Agata Robertson
Dr Ana Topf
Professor Volker Straub
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R92020
Dr Katherine Johnson
Dr Ana Topf
Rachel Thompson
Professor Hanns Lochmuller
Professor Volker Straub
et al.
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies2020
Dr Ana Topf
Sunitha Balaraju
Rachel Thompson
Dr Andreas Roos
Professor Hanns Lochmuller
et al.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant2020
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG2020
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
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