Zobrazeno 1 - 10
of 3 705
pro vyhledávání: '"neuromuscular disorders"'
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 2, Pp 44-52 (2024)
Duchenne muscular dystrophy is one of the most common inherited muscular dystrophies. The cause of this disease with an X‑linked recessive type of inheritance is mutations in the DMD gene, leading to the absence of the dystrophin protein this gene
Externí odkaz:
https://doaj.org/article/46792232088d4736866984d413355624
Autor:
Silvia Sanzo’, Federica Tizzoni, Stefano C. Previtali, Angela Berardinelli, Maria Nobile, Massimo Molteni, Martina Manzoni, Arianna Tarabelloni, Annamaria Russo, Antonella Delle Fave, Maria Grazia D’Angelo
Publikováno v:
BMC Psychology, Vol 12, Iss 1, Pp 1-13 (2024)
Abstract Background The COVID-19 pandemic substantially affected the lives of persons with inherited neuromuscular disorders (INMD), causing disruption in clinical and support services. While several studies have investigated mental health, distress
Externí odkaz:
https://doaj.org/article/93ca997e35f140b989958f871b080c77
Publikováno v:
Нервно-мышечные болезни, Vol 14, Iss 1, Pp 51-62 (2024)
Duchenne muscular dystrophy is one of the most common inherited muscular dystrophies. The cause of this disease with an X‑linked recessive type of inheritance is mutations of the DMD gene, leading to the absence of the dystrophin protein this gene
Externí odkaz:
https://doaj.org/article/690d84e9c94b40b79de7782c099f45d8
Autor:
Michael R. Emami, Mark A. Brimble, Alejandro Espinoza, Jane Owens, Laurence O. Whiteley, Sandra Casinghino, Thomas A. Lanz, Philip K. Farahat, Matteo Pellegrini, Courtney S. Young, Paul G. Thomas, Elizabeth M. McNally, S. Armando Villalta, Stefan A. Schattgen, Melissa J. Spencer
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 4, Pp 101349- (2024)
Clinical trials for Duchenne muscular dystrophy (DMD) are assessing the therapeutic efficacy of systemically delivered adeno-associated virus (AAV) carrying a modified DMD transgene. High vector doses (>1E14 vg/kg) are needed to globally transduce sk
Externí odkaz:
https://doaj.org/article/fee20f3ef621479e9e7090e49aade946
Publikováno v:
South African Journal of Physiotherapy, Vol 80, Iss 1, Pp e1-e11 (2024)
Background: Progressive respiratory muscle weakness and ineffective cough contribute to morbidity and mortality in children with neuromuscular disorders (NMD). Inspiratory muscle training (IMT) aims to preserve or improve respiratory muscle strength
Externí odkaz:
https://doaj.org/article/1382b83ab8c446c3a8b8276f0489bf20
Autor:
Tara Khoeini, Ariana Kariminejad, Yalda Nilipour, Armin Ariaei, Hossein Najmabadi, Mojtaba Arabshahi, Mehrshid Faraji Zonooz, Bahram Haghi Ashtiani
Publikováno v:
Clinical Case Reports, Vol 12, Iss 8, Pp n/a-n/a (2024)
Key Clinical Message Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a l
Externí odkaz:
https://doaj.org/article/fbcf03f5597b433ea86d3053625d15bb
Publikováno v:
Journal of Rehabilitation Medicine, Vol 56 (2024)
Objective: To determine the physical strain of walking and assess its relationship with daily steps and intensity of daily activity in people with neuromuscular diseases. Design: Cross-sectional study. Subjects/patients: Sixty-one adults with neuro
Externí odkaz:
https://doaj.org/article/1850c8ace0f749e0b8697df6f7abb1f0
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:
Paolo Alonge, Giulio Gadaleta, Guido Urbano, Antonino Lupica, Vincenzo Di Stefano, Filippo Brighina, Angelo Torrente
Publikováno v:
Brain Sciences, Vol 14, Iss 10, p 971 (2024)
Background/Objectives: Increasing evidence shows an involvement of brain plasticity mechanisms in both motor and central manifestations of neuromuscular disorders (NMDs). These mechanisms could be specifically addressed with neuromodulation or rehabi
Externí odkaz:
https://doaj.org/article/46bda1c5a51c4480abb479919ec0eb4d
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26741- (2024)
Background: Monocytes play an essential role in developing autoimmune diseases; however, their association with myasthenia gravis (MG) development is unclear. Methods: We performed a two-sample Mendelian randomization analysis to assess the causal re
Externí odkaz:
https://doaj.org/article/a6557cf8388a4637bb047eacd13b270b