Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Congenital neuromuscular disorder"'
Publikováno v:
World Journal of Clinical Cases
BACKGROUND Moebius syndrome (MBS) is a nonprogressive and rare congenital neuromuscular disorder involving the facial nerve and abductor nerve; it mainly manifests as facial paralysis and eye strabismus paralytic symptoms. Tissues in the oral cavity
Autor:
Gajardo I, Prado-Vega L, Arlek M. González-Jamett, Jorge A. Bevilacqua, Hinostroza F, Ana M. Cárdenas, Arriagada-Diaz J, Labraña-Allende M, Mattar-Araos M, Guerra-Fernández Mj, Marc Bitoun, Gómez B, Alvaro O. Ardiles
Dynamin-2 is a large GTP-ase, member of the dynamin superfamily, that regulates membrane remodeling and cytoskeleton dynamics. In the mammalian nervous system dynamin-2 modulates synaptic vesicle (SV)-recycling at the nerve terminals and receptor-tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b691ff2f13ebf6bb5838d32b2d5eb70b
https://doi.org/10.1101/2021.06.28.450172
https://doi.org/10.1101/2021.06.28.450172
Autor:
Tai-Heng Chen
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 3297, p 3297 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 3297, p 3297 (2020)
Spinal muscular atrophy (SMA) is a congenital neuromuscular disorder characterized by motor neuron loss, resulting in progressive weakness. SMA is notable in the health care community because it accounts for the most common cause of infant death resu
Autor:
Kavya Tallapaka, Adam Bournazos, Jordan Blondelle, Jane T. Seto, Madison Clark, Jeffrey D. Singer, Majid Ghassemian, J. Laitila, Stephan Lange
Publikováno v:
JCI Insight. 4
Nemaline myopathy is a congenital neuromuscular disorder characterized by muscle weakness, fiber atrophy, and presence of nemaline bodies within myofibers. However, understanding of the underlying pathomechanisms is lacking. Recently, mutations in KB
Publikováno v:
PLoS ONE, Vol 14, Iss 11, p e0224467 (2019)
PLoS ONE
PLoS ONE
Nemaline myopathy (NEM) is a congenital neuromuscular disorder primarily caused by nebulin gene (NEB) mutations. NEM is characterized by muscle weakness for which currently no treatments exist. In NEM patients a predominance of type I fibers has been
Publikováno v:
Veterinary Record Case Reports. 6
Nemaline myopathy (NM) is a congenital neuromuscular disorder with heterogeneous clinical signs such as muscle weakness, affecting humans, seldom dogs and cats. For human NM, several causative gene mutations have been identified. The hallmark of this
Autor:
Jong-Hee Chae, K. Kim, M. Kim, S. Kim, A. Cho, S. Jang, J. Lee, B. Lim, S. Park, M. Seong, W. Kim
Publikováno v:
Neuromuscular Disorders. 29:S181
Publikováno v:
Clinical Genetics. 89:93-98
X-linked myotubular myopathy (XLMTM) is a congenital neuromuscular disorder defined by severe hypotonia, respiratory failure and histopathologic changes in muscle biopsy. The objective of this report is to inform about our experience of genetic analy
Autor:
M Gryst, Archana Pradhan
Publikováno v:
Australian Dental Journal. 60:255-259
BackgroundClinical challenges associated with Moebius syndrome, a rare congenital neuromuscular disorder, include orofacial anomalies like microstomia, limited mouth opening and severe gag reflex.MethodsThis case report presents the dental management
Autor:
Bradford Coffee, Kristin Engelstad, Claudia A. Chiriboga, Kurenai Tanji, Darryl C. De Vivo, Jahannaz Dastgir, Jonathan Marra, Arunkanth Ankala
Publikováno v:
Muscle & Nerve. 51:767-772
Introduction: Nemaline myopathy (NM) is a congenital neuromuscular disorder often characterized by hypotonia, facial weakness, skeletal muscle weakness, and the presence of rods on muscle biopsy. A rare form of nemaline myopathy known as Amish Nemali