Results 31 to 40 of about 1,313 (165)

Frontiers of Sodium MRI Revisited: From Cartilage to Brain Imaging

Journal of Magnetic Resonance Imaging, Volume 54, Issue 1, Page 58-75, July 2021., 2021
Sodium magnetic resonance imaging (23Na‐MRI) is a highly promising imaging modality that offers the possibility to noninvasively quantify sodium content in the tissue, one of the most relevant parameters for biochemical investigations. Despite its great potential, due to the intrinsically low signal‐to‐noise ratio (SNR) of sodium imaging generated by ...
Olgica Zaric, Vladimir Juras, Pavol Szomolanyi, Markus Schreiner, Marcus Raudner, Chiara Giraudo, Siegfried Trattnig   +6 more
wiley   +1 more source

The prevalence of hereditary neuromuscular disorders in Northern Norway

Brain and Behavior, Volume 11, Issue 1, January 2021., 2021
Prevalence study of hereditary neuromuscular disorders (HNMD) in Northern Norway based on medical journals, a national Norwegian registry, and medical genetics data. Results showed a high prevalence of HNMD (111.9/100,000) in Northern Norway. The prevalence of Myotonia Congenita and FKRP‐related Limb‐Girdle Muscular Dystrophy R9 might be the highest ...
Kai Ivar Müller, Marijke Van Ghelue, Irene Lund, Christoffer Jonsrud, Kjell Arne Arntzen   +4 more
wiley   +1 more source

Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]

, 2011
Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode, Becker, Bradley, Buruma, Colding-Jorgensen, Emery, Fialho, Fontaine, Fournier, George, Hilton-Jones, Links, Matthews, Miller, Nagamitsu, Plassart, Plassart, Ptacek, Ptacek, Rosenfeld, Tidball, Trip, Vicart   +22 more
core   +1 more source

Paralysis Periodica Paramyotonica Caused by SCN4A Arg1448Cys Mutation

Journal of the Formosan Medical Association, 2006
Paralysis periodica paramyotonica is an overlapping disease that shares the features of paramyotonia characteristic of paramyotonia congenita (PC) and periodic paralysis characteristic of hyperkalemic periodic paralysis.
Wei-Chih Hsu, Yung-Chuan Huang, Chung-Wei Wang, Chia-Hsiang Hsueh, Ling-Ping Lai, Jiann-Horng Yeh   +5 more
doaj   +1 more source

Episodic neurologic disorders: syndromes, genes, and mechanisms. [PDF]

, 2013
Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these episodic disorders exhibit striking variety.
Fu, Ying-Hui, Ptáček, Louis J, Russell, Jonathan F   +2 more
core   +2 more sources

Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis [PDF]

, 2014
Mutations in the skeletal muscle channel (SCN4A), encoding the Nav1.4 voltage-gated sodium channel, are causative of a variety of muscle channelopathies, including non-dystrophic myotonias and periodic paralysis. The effects of many of these mutations on
Acevedo-Arozena, Abraham, Amato, Anthony A., Amior, Neta, Bentley, Liz, Blanco, Gonzalo, Brown, Steve D. M., Carter, Sarah, Corrochano, Silvia, Cortese, Andrea, Cox, Roger, Dick, James, Fratta, Pietro, Greensmith, Linda, Hanna, Michael G., Healy, Estelle G., Hutchinson, Marie, Joyce, Peter I., Koltzenburg, Martin, Lassi, Glenda, Liavas, Andrianos, Lionikas, Arimantas, McGoldrick, Philip, Männikkö, Roope, Quinn, Colin, Raja Rayan, Dipa L., Stewart, Michelle, Tucci, Valter, Wackerhage, Henning, Wettstein, Jessica   +28 more
core   +2 more sources

Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families

Biomedical Papers, 2019
Background: Paramyotonia congenita is a non-dystrophic myotonia, in which muscle relaxation is delayed after voluntary or evoked contraction. This condition cannot be distinguished on the basis of symptoms and signs alone.
Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurca   +6 more
doaj   +1 more source

Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [PDF]

, 1989
The purpose of the present study was to analyze the effects of cromakalim (BRL 34915), a potent drug from a new class of drugs characterized as K+ channel openers, on the electrical activity of human skeletal muscle.
Grafe, Peter, Lehmann-Horn, Frank, Spuler, A.   +2 more
core   +1 more source

Predominantly myalgic phenotype caused by the c.3466G > A p.A1156T mutation in SCN4A gene [PDF]

, 2017
Objective: To characterize the clinical phenotype in patients with p.A1156T sodium channel mutation. Methods: Twenty-nine Finnish patients identified with the c.3466G>A p.A1156T mutation in the SCN4A gene were extensively examined. In a subsequent study,
Hanna, Michael G., Mannikko, Roope, Palmio, Johanna, Penttila, Sini, Sandell, Satu, Udd, Bjarne   +5 more
core   +2 more sources

Lupus anticoagulant, paramyotonia congenita and pregnancy [PDF]

Canadian Journal of Anaesthesia, 1992
A case report is presented of the anaesthetic management of a parturient with paramyotonia congenita and lupus anticoagulant antibodies. She had been treated with prophylactic, subcutaneous heparin and aspirin throughout her pregnancy. Epidural analgesia was provided for labour and delivery.
P R, Howell, M J, Douglas
openaire   +2 more sources