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Neuromuscular Disorders : NMD|August 24, 2010
Clinical and neuropathological findings in patients with TACO1 mutationsJürgen Seeger, Bertold Schrank, Angela Pyle, et al.Neuromuscular Disorders : NMD|April 23, 2015
Phenotypic variability of TRPV4 related neuropathiesTeresinha Evangelista, Boglarka Bansagi, Angela Pyle, et al.Scientific Reports|September 9, 2024
Variant load of mitochondrial DNA in single human mesenchymal stem cellsDaniel Hipps, Angela Pyle, Anna L R Porter, et al.European Journal of Human Genetics : EJHG|June 2, 2021
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)Ana Töpf, Angela Pyle, Helen Griffin, et al.Mitochondrion|March 19, 2013
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTVivienne C M Neeve, Angela Pyle, Veronika Boczonadi, et al.Journal of Inherited Metabolic Disease|December 15, 2010
Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutationsUlrike Schara, Jürgen-Christoph von Kleist-Retzow, Elke Lainka, et al.Journal of Inherited Metabolic Disease|April 26, 2019
Recent advances in understanding the molecular genetic basis of mitochondrial diseaseKyle Thompson, Jack J Collier, Ruth I C Glasgow, et al.Scientific Reports|August 5, 2018
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cellsSelena Trifunov, Angela Pyle, Maria Lucia Valentino, et al.Neurobiology of Aging|May 4, 2013
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very oldJoanna Collerton, Deepthi Ashok, Carmen Martin-Ruiz, et al.Neurology. Genetics|November 24, 2016
Phenotypic convergence of Menkes and Wilson diseaseBoglarka Bansagi, David Lewis-Smith, Endre Pal, et al.Pageof 10