| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Ramesh S Yadava, Qing Yu, Mahua Mandal, Frank Rigo, C Frank Bennett, Mani S Mahadeva. Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA. Human molecular genetics. vol 29. issue 9. 2021-08-12. PMID:32242217. |
the treatment reduced myotonia and this correlated with increased clcn1 expression. |
2021-08-12 |
2023-08-13 |
mouse |
| Daniela Avila-Smirnow, Carmen Paz Vargas Leal, María de Los Angeles Beytía Reyes, Rocío Cortés Zepeda, Raúl G Escobar, Karin Kleinsteuber Saa, Marcela Lagos Lucero, María de Los Angeles Avaria Benapres, Oslando Padilla Pérez, Juan Carlos Casar Leturia, Cecilia Mellado Sagredo, Damien Sternber. Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant. Neuromuscular disorders : NMD. vol 30. issue 7. 2021-08-11. PMID:32593548. |
non-dystrophic myotonias are a group of rare neuromuscular diseases linked to scn4a or clcn1. |
2021-08-11 |
2023-08-13 |
Not clear |
| Ryogen Sasaki, Maki Nakaza, Mitsuru Furuta, Haruo Fujino, Tomoya Kubota, Masanori P Takahash. Mutation spectrum and health status in skeletal muscle channelopathies in Japan. Neuromuscular disorders : NMD. vol 30. issue 7. 2021-08-11. PMID:32660787. |
of 105 unrelated pedigrees genetically confirmed, 66 pedigrees were non-dystrophic myotonias [clcn1 (n = 30) and scn4a (n = 36)], 11 were hyperkalemic periodic paralysis (scn4a), and 28 were hypokalemic periodic paralysis [cacna1s (n = 16) and scn4a (n = 12)]. |
2021-08-11 |
2023-08-13 |
Not clear |
| Filipa Sampaio, Sérgia Soares, Sara Pereira, José Alberto Lemos, Ágata Mot. Sodium Channel Myotonia and a Novel Gly701Asp Mutation in the SCN4A Gene: From an Ophthalmological Symptom to a Familial Disease. Neuro-ophthalmology (Aeolus Press). vol 45. issue 1. 2021-07-25. PMID:33762787. |
the child and family members underwent genetic testing, which was negative for clcn1 mutations but was positive for a novel heterozygotic gly701asp mutation in the scn4a gene, compatible with sodium channel myotonia. |
2021-07-25 |
2023-08-13 |
Not clear |
| Noemi Vereb, Federica Montagnese, Dieter Gläser, Benedikt Schose. Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. Journal of neurology. vol 268. issue 5. 2021-06-18. PMID:33263785. |
non-dystrophic myotonias (ndm) are heterogeneous diseases caused by mutations in clcn1 and scn4a. |
2021-06-18 |
2023-08-13 |
Not clear |
| Bas C Stunnenberg, Samantha LoRusso, W David Arnold, Richard J Barohn, Stephen C Cannon, Bertrand Fontaine, Robert C Griggs, Michael G Hanna, Emma Matthews, Giovanni Meola, Valeria A Sansone, Jaya R Trivedi, Baziel G M van Engelen, Savine Vicart, Jeffrey M Statlan. Guidelines on clinical presentation and management of nondystrophic myotonias. Muscle & nerve. vol 62. issue 4. 2020-11-23. PMID:32270509. |
the nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the scn4a gene or loss-of-function mutations in the clcn1 gene. |
2020-11-23 |
2023-08-13 |
Not clear |
| b' Michael G Thor, Vinojini Vivekanandam, Marisol Sampedro-Casta\\xc3\\xb1eda, S Veronica Tan, Karen Suetterlin, Richa Sud, Siobhan Durran, Stephanie Schorge, Dimitri M Kullmann, Michael G Hanna, Emma Matthews, Roope M\\xc3\\xa4nnikk\\xc3\\xb. Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation. Scientific reports. vol 9. issue 1. 2020-11-09. PMID:31772215.' |
myotonia in a patient with a mutation in an s4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous clcn1 mutation. |
2020-11-09 |
2023-08-13 |
Not clear |
| C E T Araújo, C M C Oliveira, J D Barbosa, J P Oliveira-Filho, L A L Resende, P R Badial, J P Araujo-Junior, M E McCue, A S Borge. A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. Scientific reports. vol 9. issue 1. 2020-11-04. PMID:31666547. |
a large intragenic deletion in the clcn1 gene causes hereditary myotonia in pigs. |
2020-11-04 |
2023-08-13 |
Not clear |
| C E T Araújo, C M C Oliveira, J D Barbosa, J P Oliveira-Filho, L A L Resende, P R Badial, J P Araujo-Junior, M E McCue, A S Borge. A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. Scientific reports. vol 9. issue 1. 2020-11-04. PMID:31666547. |
mutations in the clcn1 gene are the primary cause of non-dystrophic hereditary myotonia in several animal species. |
2020-11-04 |
2023-08-13 |
Not clear |
| C E T Araújo, C M C Oliveira, J D Barbosa, J P Oliveira-Filho, L A L Resende, P R Badial, J P Araujo-Junior, M E McCue, A S Borge. A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. Scientific reports. vol 9. issue 1. 2020-11-04. PMID:31666547. |
moreover, to the best of our knowledge, hereditary myotonia has never been associated with a genomic deletion in the clcn1 gene in any other species. |
2020-11-04 |
2023-08-13 |
Not clear |
| Frantisek Cibulcik, Peter Spalek, Ivan Martinka, Jana Zidkova, Milan Grofik, Stefan Sivak, Egon Kurc. Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. vol 163. issue 4. 2020-06-08. PMID:30647473. |
it requires consideration of genetics as more than 100 mutations in the clcn1 gene and at least 20 mutations in the scn4a gene are associated with the clinical features of the non-dystrophic myotonias. |
2020-06-08 |
2023-08-13 |
Not clear |
| Ramesh S Yadava, Yun K Kim, Mahua Mandal, Karunasai Mahadevan, Jordan T Gladman, Qing Yu, Mani S Mahadeva. MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity. Human molecular genetics. vol 28. issue 14. 2020-03-12. PMID:30997488. |
surprisingly, mbnl1 overexpression also did not rescue myotonia, though variable rescue of clcn1 splicing and other splicing defects was seen. |
2020-03-12 |
2023-08-13 |
mouse |
| C E T Araújo, C M C Oliveira, J D Barbosa, J P Oliveira-Filho, L A L Resende, P R Badial, J P Araujo-Junior, M E Mccue, A S Borge. Publisher Correction: A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. Scientific reports. vol 10. issue 1. 2020-03-04. PMID:32099014. |
publisher correction: a large intragenic deletion in the clcn1 gene causes hereditary myotonia in pigs. |
2020-03-04 |
2023-08-13 |
Not clear |
| Héctor Gaitán-Peñas, Mercedes Armand-Ugón, Alfons Macaya, Raúl Estéve. CLCN1 Myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. Muscle & nerve. 2019-11-20. PMID:29424939. |
clcn1 myotonia congenita mutation with a variable pattern of inheritance suggests a novel mechanism of dominant myotonia. |
2019-11-20 |
2023-08-13 |
Not clear |
| Lorenzo Maggi, Sabrina Ravaglia, Alessandro Farinato, Raffaella Brugnoni, Concetta Altamura, Paola Imbrici, Diana Conte Camerino, Alessandro Padovani, Renato Mantegazza, Pia Bernasconi, Jean-François Desaphy, Massimiliano Filost. Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia. Neurogenetics. vol 18. issue 4. 2018-08-02. PMID:28993909. |
coexistence of clcn1 and scn4a mutations in one family suffering from myotonia. |
2018-08-02 |
2023-08-13 |
Not clear |
| M Lowrie, L Garos. Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia. Journal of veterinary internal medicine. vol 31. issue 4. 2018-01-03. PMID:28557061. |
in dogs, myotonia is associated with mutations in clcn1. |
2018-01-03 |
2023-08-13 |
Not clear |
| Xinglong Yang, Hua Jia, Ran An, Jing Xi, Yanming X. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. Channels (Austin, Tex.). vol 11. issue 1. 2017-10-16. PMID:27415035. |
sequence clcn1 and scn4a in patients with nondystrophic myotonias in chinese populations: genetic and pedigree analysis of 10 families and review of the literature. |
2017-10-16 |
2023-08-13 |
Not clear |
| Xinglong Yang, Hua Jia, Ran An, Jing Xi, Yanming X. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. Channels (Austin, Tex.). vol 11. issue 1. 2017-10-16. PMID:27415035. |
therefore we analyzed genetic mutations in clcn1 and scn4a in 10 chinese families clinically diagnosed with non-dystrophic myotonias. |
2017-10-16 |
2023-08-13 |
Not clear |
| Hideki Kato, Yosuke Kokunai, Carine Dalle, Tomoya Kubota, Yuta Madokoro, Hiroyuki Yuasa, Yuto Uchida, Tomomasa Ikeda, Hideki Mochizuki, Sophie Nicole, Bertrand Fontaine, Masanori P Takahashi, Shigehisa Mitak. A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. Journal of the neurological sciences. vol 369. 2017-05-22. PMID:27653901. |
a case of non-dystrophic myotonia with concomitant mutations in the scn4a and clcn1 genes. |
2017-05-22 |
2023-08-13 |
Not clear |
| Hideki Kato, Yosuke Kokunai, Carine Dalle, Tomoya Kubota, Yuta Madokoro, Hiroyuki Yuasa, Yuto Uchida, Tomomasa Ikeda, Hideki Mochizuki, Sophie Nicole, Bertrand Fontaine, Masanori P Takahashi, Shigehisa Mitak. A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. Journal of the neurological sciences. vol 369. 2017-05-22. PMID:27653901. |
non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (clcn1) or sodium channel (scn4a) gene. |
2017-05-22 |
2023-08-13 |
Not clear |