Results 71 to 80 of about 39,984 (208)

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

Epilepsia, Volume 67, Issue 4, Page 1945-1960, April 2026.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz, Leonardo Affronte, Chiara Bagliani, Serene El‐Kamand, Anthony Sze Hon Kan, Isabel T. Kristoffersen, Rebekka S. Dahl, Anne F. Højte, Stéphane Auvin, Arjan Bouman, Shimriet Zeidler, Gerhard Kluger, Gaetan Lesca, Nicolas Chatron, Zeynep Goke‐Samar, Maria T. Papadopoulou, Matthildi Athina Papathanasiou Terzi, Elise Schaefer, Anne de Saint Martin, Sarah Baer, Mohammed Al Owain, Saud Takroni, Hesham Al‐Dhalaan, Paolo Bonanni, Alessandra Rossi, Nicoletta Zanotta, Marina Trivisano, Nicola Specchio, Angela de Dominicis, Pasquale Striano, Alessandro Orsini, Maria Margherita Mancardi, Sebastian Neuens, Melanie Jennesson‐Lyver, Ira Benkel‐Herrenbrueck, David Genevieve, Richard Sidlow, Kamer Tezcan, Ilona Krey, Johannes R. Lemke, Konrad Platzer, Damien Lederer, Inga Talvik, Ulvi Vaher, Kees P. J. Braun, Anne‐Marie Guerrot, Rebecca More, Matthias De Wachter, Sarah Weckhuysen, Evelina Carapancea, Maria Roberta Cilio, Julia Jacobs, Katalin Sterbova, Simona Balestrini, Renzo Guerrini, Giulio Peroni, Inger‐Lise Mero, Walaa ElNaggar, Nour Elkhateeb, Ariane Schmetz, Denise L. Chan, Ghayda M. Mirzaa, Boris Chaumette, Adrien Legrand, Amy McTague, Tommy Stödberg, Rebekah V. Harris, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Philip K. Ahring, Nathan L. Absalom, Rikke S. Møller   +73 more
wiley   +1 more source

Psychosocial Functioning in Youth With Barth Syndrome [PDF]

Children's Health Care, 2009
This pilot study assessed the quality of life and psychosocial functioning of pediatric patients with Barth Syndrome. Thirty-four boys with Barth Syndrome and 22 healthy male controls were administered a measure of verbal ability and completed measures of quality of life, loneliness, perceived peer support, and sibling relationship quality.
Eric A, Storch, Mary, Keeley, Lisa J, Merlo, Jay B, St Amant, Marni, Jacob, Jill F, Storch, Carolyn, Spencer, Barry J, Byrne   +7 more
openaire   +2 more sources

Human trifunctional protein alpha links cardiolipin remodeling to beta-oxidation. [PDF]

PLoS ONE, 2012
Cardiolipin (CL) is a mitochondrial membrane phospholipid which plays a key role in apoptosis and supports mitochondrial respiratory chain complexes involved in the generation of ATP.
William A Taylor, Edgard M Mejia, Ryan W Mitchell, Patrick C Choy, Genevieve C Sparagna, Grant M Hatch   +5 more
doaj   +1 more source

Expanding genetic landscape of inherited bone marrow failure syndromes: Insights from the Canadian Inherited Marrow Failure Registry (CIMFR) (2001–2023)

British Journal of Haematology, Volume 208, Issue 4, Page 1407-1418, April 2026.
Summary Inherited bone marrow failure syndromes (IBMFSs) are genetically heterogeneous with an expanding spectrum of causative genes. Recent molecular advances are thought to have contributed to genetic identification, yet the true gain in diagnostic yield remains unclear.
Ye Jee Shim, Jae Hee Lee, Talya Wittmann Dayagi, Robert J. Klaassen, Yves D. Pastore, Sharon Abish, MacGregor Steele, Catherine Corriveau‐Bourque, Vicky R. Breakey, Roona Sinha, Soumitra Tole, Lisa Goodyear, Josee Brossard, Stephanie Villeneuve, Bruce Crooks, Meera Rayar, Laura Wheaton, Sara Ogle, Michaela Cada, Hongbing Li, Rinu Mathew, Yigal Dror   +21 more
wiley   +1 more source

Long-term Symptomatic, Functional, and Work Outcomes of Carpal Tunnel Syndrome among Construction Workers [PDF]

, 2016
BACKGROUND: The long-term outcomes of carpal tunnel syndrome (CTS) including symptoms, functional status, work disability, and economic impact are unknown. METHODS: We conducted a retrospective study of 234 active construction workers with medical claims
Amick, Armstrong, Cagle, Dale, Daniell, Daniell, DeStefano, Dong, Foley, Forde, Franklin, Franzblau, Gardner, Gardner, Gimeno, Glazner, Gorsche, Hudak, Ilmarinen, Katz, Keith, Kuorinka, Levine, Lipscomb, Louie, Manktelow, Padua, Pensy, Probst, Resende, Rosecrance, Salerno, Spector, Turner, Ware, Welch, Wellman   +36 more
core   +2 more sources

Seven functional classes of Barth syndrome mutation [PDF]

Human Molecular Genetics, 2012
Patients with Barth syndrome (BTHS), a rare X-linked disease, suffer from skeletal and cardiomyopathy and bouts of cyclic neutropenia. The causative gene encodes tafazzin, a transacylase, which is the major determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, CL. In addition to numerous frame shift and splice-site
Kevin, Whited, Matthew G, Baile, Pamela, Currier, Steven M, Claypool   +3 more
openaire   +2 more sources

Arginine kinetics are altered in a pilot sample of adolescents and young adults with Barth syndrome

Molecular Genetics and Metabolism Reports, 2020
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism.
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds   +8 more
doaj   +1 more source

Effects of Cannabidiol on TAFAZZIN‐Deficient B‐Lymphoblastoid Cells

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
Deficiency of the cardiolipin remodeling enzyme TAFAZZIN causes Barth syndrome (BTHS), resulting in cardiolipin loss, monolysocardiolipin (MLCL) accumulation, and electron transport chain (ETC) abnormalities in B‐lymphoblastoid cells. Effects of the non‐psychotropic phytocannabinoid cannabidiol (CBD) were examined on B‐lymphoblastoid cells from ...
John Z. Chan, Antonia N. Berdeklis, Ming Rong Liu, Fasih A. Rahman, Michelle V. Tomczewski, Mackenzie Q. Graham, Musa Musa, Alex D. Cocco, Ken D. Stark, Joe Quadrilatero, Robin E. Duncan   +10 more
wiley   +1 more source

Generation of urine-derived iPS cell line via a non-integrative method from a Barth syndrome patient with TAZ gene mutation

Stem Cell Research, 2020
Human urine cells from a 6-year-old male X-linked Barth syndrome patient harboring a TAZ frameshift (c.517delG, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi002-A using non-integration CytoTune®-iPS 2.0 Sendai Virus ...
Xiaoling Guo, Long Wang, Kaixin Chen, Shiyang Song, Xingang Wang, Xiaohong Gu, Chao Niu, Maoping Chu   +7 more
doaj   +1 more source

Expert‐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 more
wiley   +1 more source