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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Sunitha Balaraju
Dr Ana Topf
Professor Rita Horvath
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease2021
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
Dr Albert Lim
Dr Grace McMacken
Francesca Rastelli
Dr Monika Olahova
Karen Baty
et al.		A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features2020
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 Katherine Johnson
Dr Ana Topf
Professor Volker Straub
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC2020
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
Dr Katherine Johnson
Adam Bates
Lauren Phillips
Dr Marta Bertoli
et al.		Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness2020
Dr Ana Topf
Sunitha Balaraju
Rachel Thompson
Dr Andreas Roos
Professor Hanns Lochmuller
et al.		Severe neurodevelopmental disease caused by a homozygous TLK2 variant2020
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