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Items: 1 to 20 of 279

1.
The Impact of Raising Children with Barth Syndrome on Parental Health-Related Quality of Life and Family Functioning: Preliminary Reliability and Validity of the PedsQL™ Family Impact Module
Yoonjeong Lim, Ickpyo Hong, Areum Han
Occup Ther Int. 2023; 2023: 5588935. Published online 2023 Dec 30. doi: 10.1155/2023/5588935
PMCID:
PMC10771332
ArticlePDF–573K
2.
Activation of the integrated stress response rewires cardiac metabolism in Barth syndrome
Ilona Kutschka, Edoardo Bertero, Christina Wasmus, Ke Xiao, Lifeng Yang, Xinyu Chen, Yasuhiro Oshima, Marcus Fischer, Manuela Erk, Berkan Arslan, Lin Alhasan, Daria Grosser, Katharina J. Ermer, Alexander Nickel, Michael Kohlhaas, Hanna Eberl, Sabine Rebs, Katrin Streckfuss-Bömeke, Werner Schmitz, Peter Rehling, Thomas Thum, Takahiro Higuchi, Joshua Rabinowitz, Christoph Maack, Jan Dudek
Basic Res Cardiol. 2023; 118(1): 47. Published online 2023 Nov 6. doi: 10.1007/s00395-023-01017-x
PMCID:
PMC10628049
ArticlePDF–2.7M
3.
Metabolic switch from fatty acid oxidation to glycolysis in knock‐in mouse model of Barth syndrome
Arpita Chowdhury, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling
EMBO Mol Med. 2023 Sep; 15(9): e17399. Published online 2023 Aug 3. doi: 10.15252/emmm.202317399
PMCID:
PMC10493589
ArticlePDF–3.5M
4.
Elevated liver glycogenolysis mediates higher blood glucose during acute exercise in Barth syndrome
George G. Schweitzer, Grace L. Ditzenberger, Curtis C. Hughey, Brian N. Finck, Michael R. Martino, Christina A. Pacak, Barry J. Byrne, William Todd Cade
PLoS One. 2023; 18(8): e0290832. Published online 2023 Aug 31. doi: 10.1371/journal.pone.0290832
PMCID:
PMC10470866
ArticlePDF–1.3M
5.
Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome
Nicola Tovaglieri, Silvia Russo, Emanuele Micaglio, Angela Corcelli, Simona Lobasso
Front Pediatr. 2023; 11: 1250772. Published online 2023 Aug 16. doi: 10.3389/fped.2023.1250772
PMCID:
PMC10467424
ArticlePDF–249K
6.
Single Cell Transcriptomic Analysis in a Mouse Model of Barth Syndrome Reveals Cell-Specific Alterations in Gene Expression and Intercellular Communication
Gayani Perera, Liam Power, Amy Larson, Christina J. Codden, Junya Awata, Rebecca Batorsky, Douglas Strathdee, Michael T. Chin
Int J Mol Sci. 2023 Jul; 24(14): 11594. Published online 2023 Jul 18. doi: 10.3390/ijms241411594
PMCID:
PMC10380964
ArticlePDF–4.3M
7.
A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene
Atsuhito Takeda, Masahiro Ueki, Jiro Abe, Kazuhiro Maeta, Tomoko Horiguchi, Hirokuni Yamazawa, Gaku Izumi, Ayako Chida‐Nagai, Daisuke Sasaki, Takao Tsujioka, Itsumi Sato, Masahiro Shiraishi, Masafumi Matsuo
Mol Genet Genomic Med. 2023 Jul; 11(7): e2190. Published online 2023 Apr 25. doi: 10.1002/mgg3.2190
PMCID:
PMC10337275
ArticlePDF–1.1M
8.
Reduction in mRNA Expression of the Neutrophil Chemoattract Factor CXCL1 in Pseudomonas aeruginosa Treated Barth Syndrome B Lymphoblasts
Hana M. Zegallai, Kangmin Duan, Grant M. Hatch
Biology (Basel) 2023 May; 12(5): 730. Published online 2023 May 16. doi: 10.3390/biology12050730
PMCID:
PMC10215251
ArticlePDF–1.2M
9.
Identifying responders to elamipretide in Barth syndrome: Hierarchical clustering for time series data
Jef Van den Eynde, Bhargava Chinni, Hilary Vernon, W. Reid Thompson, Brittany Hornby, Shelby Kutty, Cedric Manlhiot
Orphanet J Rare Dis. 2023; 18: 76. Published online 2023 Apr 11. doi: 10.1186/s13023-023-02676-8
PMCID:
PMC10088720
ArticlePDF–1.5M
10.
Quality of life in Barth syndrome
Alexander Y. Kim, Hilary Vernon, Ryan Manuel, Mohammed Almuqbil, Brittany Hornby
Ther Adv Rare Dis. 2022 Jan-Dec; 3: 26330040221093743. Published online 2022 Jun 11. doi: 10.1177/26330040221093743
PMCID:
PMC10032447
ArticlePDF–639K
11.
Barth Syndrome: Psychosocial Impact and Quality of Life Assessment
Anandbir Bath, Oguz Akbilgic, David Wilbanks, Jay Patel, Morgan Wallen, Shereen Haji, Arnab Das, John Alexander, Issa Pour-Ghaz, Deya Alkhatib, Yonglin Huang, Erik Lontok, John Jefferies
J Cardiovasc Dev Dis. 2022 Dec; 9(12): 448. Published online 2022 Dec 9. doi: 10.3390/jcdd9120448
PMCID:
PMC9784194
ArticlePDF–1.1M
12.
Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites
Xuliang Zhao, Xu Li, Weiwei Sun, Jian-an Jia, Min Yu, Ruixia Tian
Front Pediatr. 2022; 10: 1004485. Published online 2022 Nov 9. doi: 10.3389/fped.2022.1004485
PMCID:
PMC9682154
ArticlePDF–1.2M
13.
Stimulating the sir2–spargel axis rescues exercise capacity and mitochondrial respiration in a Drosophila model of Barth syndrome
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells
Dis Model Mech. 2022 Oct 1; 15(10): dmm049279. Published online 2022 Oct 5. doi: 10.1242/dmm.049279
PMCID:
PMC9558626
Article
14.
Stimulating myocardial pyruvate dehydrogenase activity fails to alleviate cardiac abnormalities in a mouse model of human Barth syndrome
Amanda A. Greenwell, Seyed Amirhossein Tabatabaei Dakhili, Keshav Gopal, Christina T. Saed, Jordan S. F. Chan, Nick Kazungu Mugabo, Pavel Zhabyeyev, Farah Eaton, Jennifer Kruger, Gavin Y. Oudit, John R. Ussher
Front Cardiovasc Med. 2022; 9: 997352. Published online 2022 Sep 23. doi: 10.3389/fcvm.2022.997352
PMCID:
PMC9537754
ArticlePDF–7.9M
15.
Restoration of mitophagy ameliorates cardiomyopathy in Barth syndrome
Jun Zhang, Xueling Liu, Jia Nie, Yuguang Shi
Autophagy. 2022; 18(9): 2134–2149. Published online 2022 Jan 5. doi: 10.1080/15548627.2021.2020979
PMCID:
PMC9466615
ArticlePDF–5.3M
16.
Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome
Shahryar Chowdhury, Lanier Jackson, Barry J. Byrne, Randall M. Bryant, W. Todd Cade, Tammy Lane Churchill, Julia Buchanan, Carolyn Taylor
Pediatr Cardiol. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Pediatr Cardiol. 2022 Aug; 43(6): 1251–1263. Published online 2022 Mar 3. doi: 10.1007/s00246-022-02846-8
PMCID:
PMC9462389
ArticlePDF–1.3M
17.
Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome
Brittany Hornby, William Reid Thompson, Mohammed Almuqbil, Ryan Manuel, Anthony Abbruscato, Jim Carr, Hilary J. Vernon
Orphanet J Rare Dis. 2022; 17: 336. Published online 2022 Sep 2. doi: 10.1186/s13023-022-02469-5
PMCID:
PMC9438322
ArticlePDF–1.2M
18.
Myocardial disturbances of intermediary metabolism in Barth syndrome
Amanda A. Greenwell, Seyed Amirhossein Tabatabaei Dakhili, John R. Ussher
Front Cardiovasc Med. 2022; 9: 981972. Published online 2022 Aug 10. doi: 10.3389/fcvm.2022.981972
PMCID:
PMC9399503
ArticlePDF–1.6M
19.
Elamipretide for Barth syndrome cardiomyopathy: gradual rebuilding of a failed power grid
Hani N. Sabbah
Heart Fail Rev. 2022; 27(5): 1911–1923. Published online 2021 Oct 8. doi: 10.1007/s10741-021-10177-8
PMCID:
PMC9388406
ArticlePDF–1.9M
20.
An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio
Frédéric M. Vaz, Henk van Lenthe, Martin A. T. Vervaart, Femke S. Stet, Johanne H. Klinkspoor, Hilary J. Vernon, Susan M. I. Goorden, Riekelt H. Houtkooper, Willem Kulik, Ronald J. A. Wanders
J Inherit Metab Dis. 2022 Jan; 45(1): 29–37. Published online 2021 Aug 24. doi: 10.1002/jimd.12425
PMCID:
PMC9291596
ArticlePDF–1.4M

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