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Browsing publications by Professor Hanns Lochmuller

Newcastle AuthorsTitleYearFull text
Dr Charlotte Alston
Professor Robert Taylor
Professor Hanns Lochmuller
Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome2025
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Ana Topf
Professor Volker Straub
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets2025
Professor Jordi Diaz Manera
Professor Rita Horvath
Professor Hanns Lochmuller
Professor Volker Straub
Dr Christina Trainor
et al.		Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses2025
Dr Andreas Roos
Dr Oksana Pogoryelova
Dr Sally Spendiff
Professor Hanns Lochmuller
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy2024
Dr Ana Topf
Professor Rita Horvath
Professor Hanns Lochmuller
Dr Andreas Roos
A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function2023
Dr Andreas Roos
Dr Hadil Alrohaif
Dr Rita Barresi
Dr Ana Topf
Dr Teresinha Evangelista
et al.		Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects2023
Cecilia Jimenez Moreno
Dr Nikoletta Nikolenko
Professor Grainne Gorman
Gabriella-Denisa Hathazi
Dr Sally Spendiff
et al.		Periostin as a blood biomarker of muscle cell fibrosis, cardiomyopathy and disease severity in myotonic dystrophy type 12023
Professor Grainne Gorman
Professor Hanns Lochmuller
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights2022
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects2022
Professor Hanns Lochmuller
Dr Oksana Pogoryelova
A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy2021
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Molecular pathophysiology of human MICU1 deficiency2021
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Oksana Pogoryelova
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy2021
Professor Hanns Lochmuller
Dr Ana Topf
Professor Rita Horvath
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children2020
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 Hanns Lochmuller
A Phase 2 Study of AMO-02 (Tideglusib) in Congenital and Childhood-Onset Myotonic Dystrophy Type 1 (DM1)2020
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