Results 41 to 50 of about 32,855 (128)
Gendering the Menstrual Cycle in Behavioral Neuroendocrinology
American Journal of Human Biology, Volume 38, Issue 4, April 2026.ABSTRACT
The menstrual cycle is increasingly described as a “vital sign of the female body,” with the literature suggesting cycle‐related brain and behavioral changes. With growing interest in the effects that the menstrual cycle has on the brain, body and mind, characterizing what constitutes healthy cycle‐related change has become a central goal of ...Annie Duchesne, Kiranjot Kaur Jhajj, Nicole White +2 morewiley +1 more sourceBezafibrate as treatment in males for Barth syndrome: CARDIOMAN, a double-blind, placebo-controlled crossover RCT
Efficacy and Mechanism Evaluation
Barth syndrome is a rare, life-threatening X-linked recessive mitochondrial disorder of lipid metabolism primarily affecting males. Previous research suggests that bezafibrate may ameliorate cellular lipid abnormalities and reduce cardiac dysfunction in Guido E Pieles, Colin Steward, L. Dabner, Laura Collet, L. Culliford, Karen Sheehan, L. Ellis, Michaela Damin, E. Sammut, Nuno Duarte, Owen Burgess, Curtis A Wadey, C. Williams, John Crosby, Sarah Groves, Aidan Searle, B. Amulic, C. Rice, Chiara Bucciarelli-Ducci, A. Ness, Julian P Hamilton-Shield, Chris A. Rogers, B. Reeves +22 moresemanticscholar +1 more sourceDeficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome
Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 2, April 2026.ABSTRACT Background
Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlying skeletal muscle weakness and fatigability are poorly Catalina Matias, Paige L. Snider, Elizabeth A. Sierra Potchanant, Joshua R. Huot, Rahul Raghav, Michael T. Chin, Simon J. Conway, Jeffrey J. Brault +7 morewiley +1 more sourcePancreatic islets undergo functional and morphological adaptation during development of Barth Syndrome
bioRxivBarth syndrome is a multisystem genetic disorder caused by mutation in TAFAZZIN, a gene that encodes a phospholipid:lysophospholipid transacylase important for cardiolipin remodeling.Christopher Carlein, Markus D. A. Hoffmann, Andressa G. Amaral, Caroline Bickelmann, Ahmadali Lotfinia, Laurie-Anne de Selliers, Johanne Audoze-Chaud, Selina Wrublewsky, Marcel A. Lauterbach, Karina von der Malsburg, Martin van der Laan, Monika Bozem, Markus Hoth, Patrick Gilon, M. Ravier, Bruce Morgan, Emmanuel Ampofo, Christoph Maack, L. P. Roma +18 moresemanticscholar +1 more sourceNeutropenia in Barth syndrome: characteristics, risks and management
Current opinion in hematology, 2019 Purpose of review Barth syndrome (BTHS) is an X-linked disease characterized by defective remodeling of phospholipid side chains in mitochondrial membranes.C. Steward, S. Groves, C. Taylor, M. Maisenbacher, B. Versluys, R. Newbury-Ecob, H. Ozsahin, Michaela Damin, Valerie M. Bowen, Katherine R. McCurdy, M. Mackey, A. Bolyard, D. Dale +12 moresemanticscholar +1 more sourceExpert‐Designed Fact Sheets and AI‐Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT
The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal Aline Cano, Xiaoyi Chen, Azza Khemiri, Anais Brassier, Arnoux Jean‐Baptiste, Roseline Froissart, Juliette Bouchereau, Célia Hoebeke, Karin Mazodier, Bénédicte Héron, Philippe Labrune, Catherine Caillaud, David Cheillan, Yann Nadjar, Samia Pichard, Apolline Imbard, Magali Pettazzoni, Claire Douillard, Belmatoug Nadia, Anna‐Line Calatayud, Mounira Zerguini, Nicolas Garcelon, Jean‐François Benoist, Cécile Acquaviva, Pascale De Lonlay, the other members of the expert group consortium, Marie‐Thérèse Abi‐Warde, Cécile Acquaviva, Jean‐Baptiste Arnoux, Stéphanie Badiou, Magalie Barth, Nadia Belmatoug, Jean‐François Benoist, Juliette Bouchereau, Anais Brassier, Arnaud Bruneel, Catherine Caillaud, Aline Cano, Brigitte Chabrol, David Cheillan, Emmanuelle Corbe‐Guillard, Christelle Corne, Lena Damaj, Myriam Dao, Pascale De Lonlay, Anne‐Frédérique Dessein, Dries Dobbelaere, Claire Douillard, Thierry Dupré, François Feillet, Roseline Froissart, Margaux Gaschignard, Magali Gorce, Laurent Gouya, Anne‐Sophie Guemann, Bénédicte Héron, Célia Hoebeke, Apolline Imbard, Elsa Kaphan, François Labarthe, Philippe Labrune, Pascal Laforet, Thierry Levade, Elise Lebigot, Edouard Le Guillou, Olivier Lidove, Julien Maquet, Wladimir Mauhin, Clothilde Marbach, Karin Mazodier, Karine Mention, Fanny Mochel, Caroline Moreau, Yann Nadjar, Esther Noel, Mickael Obadia, Cécile Pagan, Magali Pettazzoni, Samia Pichard, Clement Pontoizeau, Aurélia Poujois, Isabelle Redonnet‐Vernhet, Frédérique Sabourdy, Manuel Schiff, Christine Serratrice, Aude Servais, Caroline Sevin, Anne Spraul, Bénédicte Sudrié, Marine Tardieu, Sandrine Vuillaumier, Camille Wicker, Arnaud Wiedemann‐Fode, Vincent Barlogis, Nathalie Boddaert, Kanetee Busiah, Annabelle Chaussenot, Dominique Debray, Céline Falaise, Muriel Girard, Dalila Habes, Annie Harroche, Florence Lacaille, Mehdi Oualha, Caroline Ovaert, Rachel Reynaud, Caroline Rousset‐Rouvière, Cécile Rouzier, Karim Wahbi +108 morewiley +1 more sourceIncreased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-TAZ Gene Delivery
International Journal of Molecular Sciences, 2019 Barth syndrome (BTHS) is a rare, X-linked, mitochondrial disorder caused by mutations in the gene encoding tafazzin. BTHS results in cardiomyopathy, muscle fatigue, and neutropenia in patients.Silveli Suzuki-Hatano, Mughil Sriramvenugopal, Manashwi Ramanathan, Meghan S. Soustek, Barry J. Byrne, W. T. Cade, Peter B. Kang, Christina A. Pacak +7 moresemanticscholar +1 more sourceCardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome.
Stem Cell Research, 2013 Barth syndrome (BTHS) patients carrying mutations in tafazzin (TAZ1), which is involved in the final maturation of cardiolipin, present with dilated cardiomyopathy, skeletal myopathy, growth retardation and neutropenia.Jan Dudek, I-Fen Cheng, Martina Balleininger, F. Vaz, K. Streckfuss-Bömeke, D. Hübscher, M. Vukotic, R. Wanders, P. Rehling, K. Guan +9 moresemanticscholar +1 more sourceUnderstanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study
Orphanet Journal of Rare Diseases, 2019 BackgroundBarth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy primarily affecting larger muscles ...I. Mazar, J. Stokes, S. Ollis, E. Love, A. Espensen, P. Barth, J. Powers, A. Shields +7 moresemanticscholar +1 more source
