Results 31 to 40 of about 31,118 (262)

NAD+ dyshomeostasis in RYR1-related myopathies

Skeletal Muscle
Background Pathogenic variants in RYR1 cause a spectrum of rare congenital myopathies associated with intracellular calcium dysregulation. Glutathione redox imbalance has been reported in several Ryr1 disease model systems and clinical studies.
Tokunbor A. Lawal, Willa Riekhof, Linda Groom, Pooja Varma, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Jessica W. Witherspoon, Muslima S. Razaqyar, Ninet Sinaii, Katherine G. Meilleur, Lichen Xiang, Jana Buzkova, Liliya Euro, Payam Mohassel, Robert T. Dirksen, Joshua J. Todd   +16 more
doaj   +1 more source

Ofatumumab in Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease: A Comparison With Rituximab

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the efficacy and safety of ofatumumab in patients with myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD), and compare it with rituximab. Methods We conducted a single–center, observational study including 22 MOGAD patients treated with ofatumumab and 21 treated with rituximab.
Yuxin Fan, Lei Zhou, Jingzi ZhangBao, Hongmei Tan, Zhouzhou Wang, Chao Quan   +5 more
wiley   +1 more source

Generation of heterozygous and homozygous NF1 lines from human-induced pluripotent stem cells using CRISPR/Cas9 to investigate bone defects associated with neurofibromatosis type 1

Frontiers in Cell and Developmental Biology
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders caused by heterozygous germline NF1 mutations. NF1 affects many systems, including the skeletal system.
Annabelle Darle, Thibault Mahiet, Déborah Aubin, Déborah Aubin, Déborah Aubin, Manon Doyen, Manon Doyen, Lina El Kassar, Béatrice Parfait, Béatrice Parfait, Gilles Lemaitre, Gilles Lemaitre, Christine Baldeschi, Christine Baldeschi, Jennifer Allouche, Jennifer Allouche, Nathalie Holic, Nathalie Holic   +17 more
doaj   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Statins in the practice of an internal medicine specialist: A review

Consilium Medicum
Statins have been used in clinical practice for more than 40 years to treat and prevent atherosclerosis and its complications. The results of observational studies indicate that, despite a large evidence base, statins in Russia are still prescribed in ...
Andrey V. Susekov
doaj   +1 more source

Employment of Microencapsulated Sertoli Cells as a New Tool to Treat Duchenne Muscular Dystrophy

Journal of Functional Morphology and Kinesiology, 2017
Duchenne muscular dystrophy (DMD) is a lethal X-linked pathology due to lack of dystrophin and characterized by progressive muscle degeneration, impaired locomotion and premature death.
Sara Chiappalupi, Laura Salvadori, Giovanni Luca, Francesca Riuzzi, Riccardo Calafiore, Rosario Donato, Guglielmo Sorci   +6 more
doaj   +1 more source

Comparing three textural measurements of chicken breast fillets affected by severe wooden breast and spaghetti meat

Italian Journal of Animal Science, 2021
In this study, we compared three popular textural tests: the compression, Meullenet–Owens razor blade (MORS), and Allo–Kramer (AK) tests, which are used to detect the wooden breast (WB) and spaghetti meat (SM) myopathies.
Antón Pascual Guzmán, Angela Trocino, Leonardo Susta, Shai Barbut   +3 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Marked Long‐Term Improvement in Lung Function in Melanoma Differentiation–Associated Protein 5 Antibody–Positive Dermatomyositis Patients: Experience of a Single‐Center Longitudinal Cohort in North America

Arthritis Care &Research, EarlyView.
Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah, Sangmee S. Bae, Tiffany De Leon, Yuna Lee, Rong Guo, David Elashoff, Jennifer Wang, Ani Shahbazian, Christina Charles‐Schoeman   +8 more
wiley   +1 more source