Results 101 to 110 of about 77,106 (331)

Infantile and early childhood onset of mitochondrial myopathy due to mutations in the TK2 gene with a phenotype of spinal muscular atrophy 5q: the first cases in Russia

Нервно-мышечные болезни, 2019
Introduction. Mitochondrial myopathy with thymidine kinase 2 deficiency and spinal muscular atrophy 5q (SMA-5q) are two potentially curable hereditary diseases with different levels of damage to the neuromuscular system and etiology.
S. A. Kurbatov, P. G. Tsygankova, K. Yu. Mollaeva, I. O. Bychkov, Yu. S. Itkis, V. V. Zabnenkova, Z. R. Umakhanova, L. G. Geybatova, E. Yu. Zakharova   +8 more
doaj   +1 more source

HEREDITARY FORM OF PROGRESSIVE MUSCULAR ATROPHY WITH SPINAL LESION IN YOUNG CHILDREN [PDF]

, 1897
F. E. Batten
openalex   +1 more source

Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening

Developmental Medicine & Child Neurology, 2022
T. Dangouloff, M. Hiligsmann, N. Deconinck, A. D’Amico, A. Seferian, F. Boemer, L. Servais   +6 more
semanticscholar   +1 more source

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Therapeutics and Clinical Risk Management, 2019
Recent advances in the treatment of spinal muscular atrophy (SMA) have dramatically altered prognosis. Rather than a rapidly lethal disease, SMA type 1, the most severe form with the earliest onset of SMA, has become a disease in which long-term event ...
T. Dangouloff, L. Servais
semanticscholar   +1 more source

Advances in Invertebrate Biohybrid Robotics: Leveraging Nature for Locomotion and Sensing in Engineered Systems

Advanced Intelligent Systems, EarlyView.
This review explores invertebrate biohybrid robots that integrate living organisms—such as insects, jellyfish, spiders, and sea slugs—into robotic systems for locomotion, sensing, and actuation. The advantages in efficiency and cost, discuss control, and power challenges are highlighted, and future considerations to guide the development of sustainable,
Charles J. Fraga, Matticus S. Brown, Nicole W. Xu   +2 more
wiley   +1 more source

Biomarkers in spinal muscular atrophy

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   +1 more source

SMA Type III Mimics Muscular Dystrophy

Pediatric Neurology Briefs, 2013
Researchers at the National Neuroscience Institute, Riyadh, Saudi Arabia, report a series of 8 patients with type III spinal muscular atrophy who were referred with a diagnosis of muscular dystrophy.
J Gordon Millichap
doaj   +1 more source

Progressive Spinal Muscular Atrophy (Duchenne-Aran) following Electric Shock; Positive Wassermann Reaction [PDF]

, 1917
F. Parkes Weber
openalex   +1 more source

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Orphanet Journal of Rare Diseases, 2017
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
I. Verhaart, A. Robertson, I. Wilson, A. Aartsma-Rus, S. Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller   +7 more
semanticscholar   +1 more source

Clinical decision making around commercial use of gene and genetic therapies for spinal muscular atrophy

Neurotherapeutics
Spinal muscular atrophy is no longer a leading cause of inherited infant death in the United States. Since 2016, three genetic therapies have been approved for the treatment of spinal muscular atrophy.
Megan A. Waldrop
doaj