Zobrazeno 1 - 10
of 604
pro vyhledávání: '"spinal muscular atrophy (sma)"'
Autor:
Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afroze
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) ge
Externí odkaz:
https://doaj.org/article/01e5f761270643aba885ff0b0b52a4d9
Autor:
P. Lizandra Cortés, D. Poveda Verdú, A. Albert Férriz, N.C. Ñungo-Garzón, M.C. Domine, T. Sevilla-Mantecón, I. Pitarch-Castellano, J.F. Vázquez-Costa
Publikováno v:
Neurología, Vol 39, Iss 9, Pp 733-742 (2024)
Resumen: Introducción: La atrofia muscular espinal 5q (AME) es una enfermedad genética neurodegenerativa que afecta a las motoneuronas alfa produciendo debilidad progresiva. Actualmente se precisan nuevas herramientas que permitan medir y caracteri
Externí odkaz:
https://doaj.org/article/407b92b240634272883fde48f25f7def
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-11 (2024)
Abstract Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progr
Externí odkaz:
https://doaj.org/article/7b6d1a3ba0c44da38172ddf17cbbbd63
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)
Abstract Spinal muscular atrophy (SMA) genes, SMN1 and SMN2 (hereinafter referred to as SMN1/2), produce multiple circular RNAs (circRNAs), including C2A–2B–3–4 that encompasses early exons 2A, 2B, 3 and 4. C2A-2B-3-4 is a universally and abund
Externí odkaz:
https://doaj.org/article/7d6d0f64ce3f4042b7ff32505f5de059
Autor:
A. Gregory Matera, Rebecca E. Steiner, C. Allie Mills, Benjamin D. McMichael, Laura E. Herring, Eric L. Garcia
Publikováno v:
Frontiers in RNA Research, Vol 2 (2024)
IntroductionMolecular chaperones and co-chaperones are highly conserved cellular components that perform a variety of duties related to the proper three-dimensional folding of the proteome. The web of factors that carries out this essential task is c
Externí odkaz:
https://doaj.org/article/9428fafe243740aeb08226fc03eb62c2
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
IntroductionThe U1 small nuclear RNA (snRNA) forms ribonucleoprotein particles (RNPs) such as U1 snRNP and U1-TAF15 snRNP. U1 snRNP is one of the most studied RNPs due to its critical role in pre-mRNA splicing in defining the 5′ splice site (5′ss
Externí odkaz:
https://doaj.org/article/17dea3230bf44639aa28ffc0eda8c236
Publikováno v:
Neurology and Therapy, Vol 13, Iss 3, Pp 583-598 (2024)
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by progressive muscle weakness and atrophy. Clinical trial data suggest early diagnosis and treatment are critical. The purpose of this st
Externí odkaz:
https://doaj.org/article/e77e62e7f8324a64a293f7d6d9bcb8ef
Publikováno v:
康复学报, Pp 1-8 (2024)
ObjectiveBased on Hammersmith Function Motor Scale Expanded （HFMSE），the study aimed at constructing item response model （IRM） to evaluate the functioning of patients with spinal muscular atrophy （SMA） and exploring the metrical characte
Externí odkaz:
https://doaj.org/article/0e2301adcda4459191d8d4ed8f9846e9
Publikováno v:
Journal of Pediatrics Review, Vol 12, Iss 1, Pp 65-72 (2024)
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder that is highly frequent in children. This leads to serious health challenges for children of different severity levels. Orem’s self-care deficit nursing theory helps parents get
Externí odkaz:
https://doaj.org/article/d8742e1fe5e6404eb4139fbecd32dc81
Autor:
Vranda Garg, Bart R. H. Geurten
Publikováno v:
Frontiers in Neuroscience, Vol 18 (2024)
In the dynamic landscape of biomedical science, the pursuit of effective treatments for motor neuron disorders like hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis (ALS), and spinal muscular atrophy (SMA) remains a key priority. Ce
Externí odkaz:
https://doaj.org/article/93a3f5a7292d42618f7e5ddf3e2ca8ce