Results 71 to 80 of about 333,621 (210)

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Atrial Myopathy Underlying Atrial Fibrillation [PDF]

, 2020
While AF most often occurs in the setting of atrial disease, current assessment and treatment of patients with AF does not focus on the extent of the atrial myopathy that serves as the substrate for this arrhythmia.
Goldberger, Jeffrey J, Jeffrey J Goldberger, Rivner, Harold, Mitrani, Raul D, Raul D Mitrani, Harold Rivner   +5 more
core   +1 more source

Follow-up of a pregnant patient with restrictive cardiomyopathy and neuromuscular disease – mission is possible – case report [PDF]

Българска кардиология
The follow-up of pregnant patients with cardiomyopathies is a challenge that every cardiologist will be facing sooner or later. We present the first case of a patient with restrictive cardiomyopathy and Alpha-B-crystallinopathy (distal myopathy type ...
Z. Shomanova, H. Welp, R. Schmitz, J.R. Sindermann   +3 more
doaj   +3 more sources

Incretin‐Based Therapies: A Testable Hypothesis Linking Incretin Signaling, Mitochondrial Redox, and OXPHOS Efficiency

Obesity, EarlyView.
ABSTRACT Objective Incretin‐based obesity therapies (IBTs), especially GLP‐1 receptor agonists (GLP‐1 RAs), effectively treat obesity and improve comorbidities. However, their impact on energy metabolism is unclear. A recent case of acute generalized muscle weakness in a patient with mitochondrial myopathy after tirzepatide exposure raises concerns ...
Bryn Falahee, Caroline M. Apovian, Nawfal Istfan   +2 more
wiley   +1 more source

Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center

Frontiers in Neurology, 2020
Background: Myofibrillar myopathy is a group of hereditary neuromuscular disorders characterized by dissolution of myofibrils and abnormal intracellular accumulation of Z disc-related proteins.
Yue-Bei Luo, Yuyao Peng, Yuling Lu, Qiuxiang Li, Huiqian Duan, Fangfang Bi, Huan Yang   +6 more
doaj   +1 more source

Muscle fatigue in patients with severe long COVID: A 2‐year follow‐up study

PM&R, EarlyView.
Abstract Background Fatigue is recognized as one of the most persistent and debilitating symptoms of long COVID, affecting both functionality and quality of life. However, its long‐term effects, especially beyond the first year after infection, remain poorly understood.
Isabella da Silva Almeida, Leandro Gomes de Jesus Ferreira, Marco Aurélio Vaz, Rochelle Rocha Costa, Nicolas Babault, Rita de Cássia Marqueti, João Luiz Quagliotti Durigan   +6 more
wiley   +1 more source

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1) [PDF]

, 2004
We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy ...
Hedera, Peter, Petty, E.M., Parry, C., de Visser, Marianne, Herrmann, Ralf, Mastaglia, Frank L., Voit, T., Bridges, Leslie, Lamont, Phillipa, van der Graaff, Maaike M., Herrmann, R., Beckman, K., Meredith, Christopher, Lamont, P., DeVisser, Marianne, Bridges, L., Fabian, V., Parry, Cheryl, Dye, D.E., Durling, Hayley J., Mastaglia, F.L., Laing, N.G., Meredith, C., Voit, Thomas, Fink, J.K., Durling, H.J., Dye, Danielle E., Laing, Nigel G., Vander Graaff, Maaike M., Fabian, Vicki, de Visser, M., van de Graaff, Maaike M., Petty, Elizabeth M., Fink, John K., Duff, R.M., Hedera, P., Beckman, Kaye, Liyanage, Khema, Duff, Rachael M., van der Graaff, M.M., Liyanage, K.   +40 more
core   +2 more sources

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient

, 2019
GNE myopathy is an autosomal-recessive distal myopathy. It is caused by a hypomorphic GNE gene, encoding the rate-limiting enzyme in sialic acid synthesis.
Nastaran Rafiei, Shaweta Khosa, Valles-Ayoub, Yadira, Darvish, Daniel, Daniel Darvish, Bhavesh Trikamji, Trikamji, Bhavesh, Moheb, Negar, MD, Yadira Valles-Ayoub, Robert Freundlich, Shri K. Mishra, Negar Moheb, Khosa, Shaweta, Rafiei, Nastaran, Freundlich, Robert, Mishra, Shri K   +15 more
core   +2 more sources

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source