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Browsing publications by Dr Ana Topf

Newcastle AuthorsTitleYearFull text
Dr Sabine Specht
Dr Jennifer Duff
Dr Richard Charlton
Dr Tuomo Polvikoski
Dr Rita Barresi
et al.
A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A2021
Professor Michael Hanna
Dr Ana Topf
Professor Volker Straub
A form of muscular dystrophy associated with pathogenic variants in JAG22021
Dr Ana Topf
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients2021
Sunitha Balaraju
Dr Ana Topf
Professor Rita Horvath
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease2021
Dr Ana Topf
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 10.1038/s41431-021-00900-2)2021
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Molecular pathophysiology of human MICU1 deficiency2021
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
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