Results 121 to 130 of about 80,027 (353)

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

Designing Upper-Body Gesture Interaction with and for People with Spinal Muscular Atrophy in VR [PDF]

arXiv
Recent research proposed gaze-assisted gestures to enhance interaction within virtual reality (VR), providing opportunities for people with motor impairments to experience VR. Compared to people with other motor impairments, those with Spinal Muscular Atrophy (SMA) exhibit enhanced distal limb mobility, providing them with more design space.
arxiv  

PROGRESSIVE SPINAL MUSCULAR ATROPHY OF INFANTS (WERDNIG-HOFFMANN TYPE) [PDF]

, 1912
F. E. Batten, Gordon Holmes
openalex   +1 more source

Paracetamol and its metabolites in children and adults with spinal muscular atrophy – a population pharmacokinetic model

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aims The aim of the study was to investigate whether differences in paracetamol pharmacokinetics (PK) between spinal muscular atrophy (SMA) patients and healthy controls (HC) could be attributed to specific clinical covariates. Methods Nonlinear mixed‐effects modelling (NONMEM 7.4) was used to develop a population PK model, explore covariates ...
Qiaolin Zhao, Marie Mostue Naume, Brenda C. M. de Winter, Thomas Krag, Sissel Sundell Haslund‐Krog, Karoline Lolk Revsbech, John Vissing, Helle Holst, Morten Hylander Møller, Tessa Munkeboe Hornsyld, Morten Dunø, Christina Engel Hoei‐Hansen, Alfred Peter Born, Per Bo Jensen, Mette Cathrine Ørngreen   +14 more
wiley   +1 more source

Defective axonal transport in motor neuron disease [PDF]

, 2007
Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas, Blair, Boillee, Bommel, Borchelt, Bowling, Brown, Bruijn, Burger, Cao, Cleveland, Cleveland, Duchen, Escurat, Evans, Fichera, Fliegner, Gaudette, Goldstein, Hadano, Hafezparast, Hazan, Hirokawa, Hirokawa, Hirokawa, Jablonka, Joshi, Kanai, Kaplan, Kieran, King, Kong, LaMonte, Levy, Ligon, Liu, Lo Giudice, Lu, Martin, Miki, Miki, Mitsumoto, Mitsumoto, Muglia, Munch, Nicholson, Nishimura, Okabe, Otomo, Parkinson, Parysek, Pasinelli, Patel, Proukakis, Puls, Puls, Quenneville, Rao, Reid, Reid, Reid, Rosen, Ross, Rowland, Sanderson, Schmitt-John, Shaw, Shibata, Siegel, Song, Teuchert, Troy, Vallee, Weber, Williamson, Wood, Xia, Zhao   +77 more
core   +1 more source

Proximal spinal muscular atrophy 5q

Нервно-мышечные болезни, 2020
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article Editorial
doaj  

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

Development of a Robotic System for Automatic Wheel Removal and Fitting [PDF]

arXiv, 2019
This paper discusses the image processing and computer vision algorithms for real time detection and tracking of a sample wheel of a vehicle. During the manual tyre changing process, spinal and other muscular injuries are common and even more serious injuries have been recorded when occasionally, tyres fail (burst) during this process.
arxiv  

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

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

Mitochondria and Endoplasmic Reticulum Contact Site as a Regulator of Proteostatic Stress Responses in Neurodegenerative Diseases

BioEssays, EarlyView.
Recent findings indicate that mitochondria‐associated membranes (MAMs), where the endoplasmic reticulum directly contacts the mitochondria, are a novel microdomain essential for cellular homeostasis, including proteostasis. We summarize the disruption of protein homeostasis and MAM alteration in neurodegenerative diseases, then discuss challenges and ...
Seiji Watanabe, Koji Yamanaka
wiley   +1 more source