Results 11 to 20 of about 594,870 (337)

Advances and limitations for the treatment of spinal muscular atrophy

BMC Pediatrics, 2022
Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
John W. Day, Kelly Howell, Amy Place, Kimberly Long, Jose Rossello, Nathalie Kertesz, George Nomikos   +6 more
doaj   +2 more sources

Diabetic Muscular Atrophy: Molecular Mechanisms and Promising Therapies

Frontiers in Endocrinology, 2022
Diabetes mellitus (DM) is a typical chronic disease that can be divided into 2 types, dependent on insulin deficiency or insulin resistance. Incidences of diabetic complications gradually increase as the disease progresses.
Yuntian Shen, Ming Li, Kexin Wang, Guangdong Qi, Hua Liu, Wei Wang, Yanan Ji, Mengyuan Chang, Chunyan Deng, Feng Xu, Mi Shen, Hualin Sun, Hualin Sun   +12 more
doaj   +2 more sources

Spinal muscular atrophy [PDF]

Orphanet Journal of Rare Diseases, 2011
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. Estimated incidence is 1 in 6,000 to 1
D'Amico Adele, Mercuri Eugenio, Tiziano Francesco D, Bertini Enrico   +3 more
doaj   +3 more sources

Biomarkers in spinal muscular atrophy [PDF]

Frontiers in Neurology
Spinal muscular atrophy is a hereditary disorder leading to severe neuromuscular impairment. With the introduction of disease-modifying therapies in recent years, the role of biomarkers has expanded from aiding diagnosis to monitoring treatment responses,
Liping Yan, Jinping Zhang, Jian Zheng, Hua Hao   +3 more
doaj   +2 more sources

Rehabilitation management for patients with spinal muscular atrophy: a review [PDF]

Orphanet Journal of Rare Diseases
The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients’ quality of life.
Wei Song, Xiaohua Ke
doaj   +2 more sources

Spinal Muscular Atrophy

Pediatric Neurology Briefs, 1990
Juvenile chronic segmental spinal muscular atrophy of Hirayama is described in two adult identical twins from the Department of Neurology, University of Vermont College of Medicine, Burlington, VT.
J Gordon Millichap
doaj   +3 more sources

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

New England Journal of Medicine, 2018
Connolly, A. M., et al,
core   +3 more sources

Protective Effect of Delta-Like 1 Homolog Against Muscular Atrophy in a Mouse Model [PDF]

Endocrinology and Metabolism, 2022
Background Muscle atrophy is caused by an imbalance between muscle growth and wasting. Delta-like 1 homolog (DLK1), a protein that modulates adipogenesis and muscle development, is a crucial regulator of myogenic programming.
Ji Young Lee, Minyoung Lee, Dong-Hee Lee, Yong-ho Lee, Byung-Wan Lee, Eun Seok Kang, Bong-Soo Cha   +6 more
doaj   +1 more source

Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment

International Journal of Molecular Sciences, 2023
Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive inheritance. The first cases of SMA were reported by Werdnig in 1891.
H. Nishio, Emma Tabe Eko Niba, Toshio Saito, Kentaro Okamoto, Y. Takeshima, H. Awano   +5 more
semanticscholar   +1 more source

Base editing rescue of spinal muscular atrophy in cells and in mice

Science, 2023
Spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, arises from survival motor neuron (SMN) protein insufficiency resulting from SMN1 loss.
Mandana Arbab, Zaneta Matuszek, Kaitlyn M. Kray, Ailing Du, Gregory A. Newby, A. Blatnik, Aditya Raguram, M. Richter, K. Zhao, Jonathan M. Levy, Max W. Shen, W. Arnold, Dan Wang, Jun Xie, Guangping Gao, A. Burghes, David R. Liu   +16 more
semanticscholar   +1 more source