Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Karen Baty"'
Autor:
Mary M. Reilly, William Stewart, Gavin Falkous, Y.S. Ng, Robert W. Taylor, Emma L. Blakely, Sila Hopton, Andrew M. Schaefer, Maria Elena Farrugia, Hugh J. Willison, Karen Baty
Publikováno v:
Neuromuscular Disorders
Highlights • Non-syndromic presentations of mtDNA-related adult disease are diagnostically challenging. • Access to diagnostic muscle biopsies from the patient and his clinically-unaffected mother were essential in defining which of two heteropla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791a69f8bebd6e9029a4dc9d697863ea
http://europepmc.org/articles/PMC8708152
http://europepmc.org/articles/PMC8708152
Autor:
Ronan Walsh, Sinéad M. Murphy, John Craig, Petya Bogdanova-Mihaylova, Karen Baty, Francesca Brett, Robert W. Taylor, Luke O'Donnell, Michael D Alexander, Emma L. Blakely
Publikováno v:
Journal of Neuromuscular Diseases. 7:355-360
We describe a patient with chronic progressive external ophthalmoplegia (CPEO) due to a rare mitochondrial genetic variant. Muscle biopsy revealed numerous cytochrome c oxidase (COX)-deficient fibres, prompting sequencing of the entire mitochondrial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7425c38226bc00a99dd877de6eacc85
https://doi.org/10.3233/jnd-200486
https://doi.org/10.3233/jnd-200486
Autor:
Kenneth McWilliam, Alison Cozens, Emma L. Blakely, Gavin Falkous, Albert Z Lim, Robert McFarland, Robert W. Taylor, Karen Baty, Sila Hopton, Langping He
Publikováno v:
Mitochondrion
Mitochondrial DNA variants in the MT-TM (mt-tRNAMet) gene are rare, typically associated with myopathic phenotypes. We identified a novel MT-TM variant resulting in prolonged seizures with childhood-onset myopathy, retinopathy, short stature and elev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::757f63fe3f8ab334fb945fc58c789630
http://europepmc.org/articles/PMC6617384
http://europepmc.org/articles/PMC6617384
Autor:
Gavin Falkous, Robert McFarland, Karen Baty, Grace McMacken, Robert W. Taylor, Monika Oláhová, Sila Hopton, Chiara Marini-Bettolo, Ana Töpf, Francesca Rastelli, Hanns Lochmüller, Albert Z Lim
Publikováno v:
Neuromuscular Disorders
Highlights • This novel m.5860delTA variant in the MT-TY gene that caused mitochondrial disorder can manifest clinical features suggestive of myasthenic syndromes. • This variant has been demonstrated to be pathogenic by our histochemical, immuno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0feebd09c1156eae2c798083fe60a9fe
http://hdl.handle.net/10230/45538
http://hdl.handle.net/10230/45538
Autor:
Emma L. Blakely, Isabell Cordts, Robert W. Taylor, Pushpa Raj Joshi, Benedikt Schoser, Gavin Falkous, Sila Hopton, Marcus Deschauer, Karen Baty
Progressive external ophthalmoplegia is typically associated with single or multiple mtDNA deletions but occasionally mtDNA single nucleotide variants within mitochondrial transfer RNAs (mt-tRNAs) are identified. We report a 34-year-old female sporad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997a7036495b5a51643e4cd6a714d60a
https://mediatum.ub.tum.de/doc/1581440/document.pdf
https://mediatum.ub.tum.de/doc/1581440/document.pdf
Autor:
Taylor, Charlotte Zierz, Karen Baty, Emma Blakely, Sila Hopton, Gavin Falkous, Andrew Schaefer, Marios Hadjivassiliou, Ptolemaios Sarrigiannis, Yi Ng, Robert
Publikováno v:
Journal of Clinical Medicine; Volume 8; Issue 6; Pages: 789
Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::71df4d7e5bae636e46b475abd398f021
Autor:
Charlotte M. Zierz, Karen Baty, Emma L. Blakely, Sila Hopton, Gavin Falkous, Andrew M. Schaefer, Marios Hadjivassiliou, Ptolemaios G. Sarrigiannis, Yi Shiau Ng, Robert W. Taylor
Publikováno v:
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 8, Iss 6, p 789 (2019)
Journal of Clinical Medicine, Vol 8, Iss 6, p 789 (2019)
Both nuclear and mitochondrial DNA defects can cause isolated cytochrome c oxidase (COX; complex IV) deficiency, leading to the development of the mitochondrial disease. We report a 52-year-old female patient who presented with a late-onset, progress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7bcca9c5ac575360fae51cd3618134d2
http://europepmc.org/articles/PMC6617079
http://europepmc.org/articles/PMC6617079
Autor:
Ahmed Ali, Martin Schröder, Max Brown, Karen Baty, Michael C. Armstrong, Hanan A. M. Sagini, Achim Treumann, Sergej Šesták
Publikováno v:
Molecular and cellular biology, 2017, Vol.37(16), pp.e00655-16 [Peer Reviewed Journal]
Molecular and Cellular Biology
Molecular and Cellular Biology
The bifunctional protein kinase-endoribonuclease Ire1 initiates splicing of the mRNA for the transcription factor Hac1 when unfolded proteins accumulate in the endoplasmic reticulum. Activation of Saccharomyces cerevisiae Ire1 coincides with autophos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c26b4389afd62c5b69e49f25c4778e37
https://doi.org/10.1128/mcb.00655-16
https://doi.org/10.1128/mcb.00655-16
Autor:
Diana, Lehmann, Kathrin, Schubert, Pushpa R, Joshi, Steven A, Hardy, Helen A L, Tuppen, Karen, Baty, Emma L, Blakely, Christian, Bamberg, Stephan, Zierz, Marcus, Deschauer, Robert W, Taylor
Publikováno v:
European Journal of Human Genetics
Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3beceaf706394ea14bf61af8427d6667
https://pubmed.ncbi.nlm.nih.gov/25873012
https://pubmed.ncbi.nlm.nih.gov/25873012
Autor:
Diana, Lehmann, Kathrin, Schubert, Pushpa R, Joshi, Karen, Baty, Emma L, Blakely, Stephan, Zierz, Robert W, Taylor, Marcus, Deschauer
Publikováno v:
Neuromuscular Disorders
Highlights • Identification of a novel m.7539C > T mutation in the mt-tRNAAsp gene. • Confirmation of pathogenicity by single muscle fibre segregation studies. • Extension of spectrum of pathogenic mutations in the mt-tRNAAsp gene. • Affirmat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::688e6cacbabcfdf5fafe3563b2f44513
https://pubmed.ncbi.nlm.nih.gov/25447692
https://pubmed.ncbi.nlm.nih.gov/25447692