1 |
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies |
|
|
| Fernando Morales, Michael Pusch |
|
| Frontiers in Neurology. 2020; 10 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
2 |
Clinical implication of maximal voluntary ventilation in myotonic muscular dystrophy |
|
|
| Mi Ri Suh, Dong Hyun Kim, Jiho Jung, Bitnarae Kim, Jang Woo Lee, Won Ah Choi, Seong-Woong Kang |
|
| Medicine. 2019; 98(18): e15321 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
3 |
Hashimoto Thyroiditis Presenting with a Transient Myotonia |
|
|
| Sang-Soo Lee,Minju Cha,Minju Yeo |
|
| Journal of the Korean Neurological Association. 2018; 36(1): 49 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
4 |
A review of the use of mexiletine in patients with myotonic dystrophy and non-dystrophic myotonia |
|
|
| Simon DæMello,Ling Shum |
|
| European Journal of Hospital Pharmacy. 2016; 23(6): 359 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
5 |
Phenotypic Variability in Childhood of Skeletal Muscle Sodium Channelopathies |
|
|
| Harumi Yoshinaga,Shunichi Sakoda,Takashi Shibata,Tomoyuki Akiyama,Makio Oka,Jun-Hui Yuan,Hiroshi Takashima,Masanori P. Takahashi,Tetsuro Kitamura,Nagako Murakami,Katsuhiro Kobayashi |
|
| Pediatric Neurology. 2015; 52(5): 504 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
6 |
Understanding the Experience of Myotonic Dystrophy. Mixed Method Study |
|
|
| Amy Østertun Geirdal,Inger Lund-Petersen,Arvid Heiberg |
|
| Journal of Genetic Counseling. 2015; 24(1): 169 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
7 |
Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling |
|
|
| Ashok Kumar,Sarita Agarwal,Sunil Pradhan |
|
| Case Reports in Medicine. 2014; 2014: 1 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
8 |
Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population |
|
|
| E. A. Ivanova,A. V. Polyakov |
|
| Russian Journal of Genetics. 2013; 49(12): 1227 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
9 |
An unusual case with myotonia |
|
|
| Yu-Wei Da,Min Wang,Yun Li,Yan Lu,Jian-Ping Jia |
|
| The Kaohsiung Journal of Medical Sciences. 2013; 29(3): 172 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
10 |
An unusual case with myotonia |
|
|
| Da, Y.-W. and Wang, M. and Li, Y. and Lu, Y. and Jia, J.-P. |
|
| Kaohsiung Journal of Medical Sciences. 2013; 29(3): 172-175 |
|
| [Pubmed] [Google Scholar] |
|
11 |
Exploring the role of sodium channel inhibitors in neurological and psychiatric disorders |
|
|
| Tarnawa, I. |
|
| Drugs of the Future. 2012; 37(7): 499-521 |
|
| [Pubmed] [Google Scholar] |
|
12 |
Positive muscle phenomena-diagnosis, pathogenesis and associated disorders |
|
|
| Kortman, H.G. and Veldink, J.H. and Drost, G. |
|
| Nature Reviews Neurology. 2012; 8(2): 97-107 |
|
| [Pubmed] [Google Scholar] |
|
13 |
Positive muscle phenomena—diagnosis, pathogenesis and associated disorders |
|
|
| Hans G. Kortman,Jan H. Veldink,Gea Drost |
|
| Nature Reviews Neurology. 2012; 8(2): 97 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
14 |
Therapeutics development in myotonic dystrophy type |
|
|
| Pennock, E. and Mahadevan, M.S. |
|
| Muscle and Nerve. 2011; 44(2): 160-169 |
|
| [Pubmed] [Google Scholar] |
|
15 |
Clinical, familial and hereditary analysis of myotonic dystrophy |
|
|
| Wu, Z. and Yang, J. and Cao, J. and Hu, Z. and Zhan, Y. and Li, J. and Li, Y. and Wang, Y. and Zhang, C. |
|
| Journal of Central South University (Medical Sciences). 2011; 36(6): 520-524 |
|
| [Pubmed] [Google Scholar] |
|
16 |
Defining potentially conserved RNA regulons of homologous zinc-finger RNA-binding proteins |
|
|
| Scherrer, T., Femmer, C., Schiess, R., Aebersold, R., Gerber, A.P. |
|
| Genome Biology. 2011; 12(1): art R 3 |
|
| [Pubmed] [Google Scholar] |
|
17 |
Perspectives on gene therapy in myotonic dystrophy type 1 |
|
|
| Jonathan J. Magaña, Bulmaro Cisneros |
|
| Journal of Neuroscience Research. 2011; 89(3): 275 |
|
| [HTML Full text] [Google Scholar] [DOI] |
|
18 |
Therapeutics development in myotonic dystrophy type 1 |
|
|
| Erin Pennock Foff,Mani S. Mahadevan |
|
| Muscle & Nerve. 2011; 44(2): 160 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
19 |
Association between basal, squamous cell carcinomas, dysplastic nevi and myotonic muscular dystrophy indicates an important role of RNA-binding proteins in development of human skin cancer |
|
|
| Alexander Zemtsov |
|
| Archives of Dermatological Research. 2010; 302(3): 169-170 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
20 |
Thyroid hormone beta receptor mutation causes renal dysfunction and impairment of ClC-2 chloride channel expression in mouse kidney |
|
|
| Ornellas, D.D.S., Gomes, A.C., Santiago, L.A., Novaira, H.J., Ortiga-Carvalho, T., Morales, M.M. |
|
| Cellular Physiology and Biochemistry. 2010; 26(2): 227-234 |
|
| [Pubmed] [Google Scholar] |
|