| 1 |
Role of HSP70 chaperone in protein aggregate phenomenon of GNE mutant cells: therapeutic lead for GNE Myopathy |
|
|
| Rashmi Yadav, Shamulailatpam Shreedarshanee Devi, Jyoti Oswalia, Sivaprakash Ramalingam, Ranjana Arya |
|
| The International Journal of Biochemistry & Cell Biology. 2022; : 106258 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 2 |
GNE Myopathy in Turkish Sisters with a Novel Homozygous Mutation |
|
|
| Gulden Diniz,Yaprak Secil,Serdar Ceylaner,Figen Tokucoglu,Sabiha Türe,Mehmet Celebisoy,Tülay Kurt Incesu,Galip Akhan |
|
| Case Reports in Neurological Medicine. 2016; 2016: 1 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 3 |
Skeletal muscle involvement in cardiomyopathies |
|
|
| Giuseppe Limongelli,Raffaella D’Alessandro,Valeria Maddaloni,Alessandra Rea,Anna Sarkozy,William J. McKenna |
|
| Journal of Cardiovascular Medicine. 2013; 14(12): 837 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 4 |
Four-dimensional ultrasound calf muscle imaging in patients with genetic types of distal myopathy |
|
|
| Ekaterina Titianova,Teodora Chamova,Velina Guergueltcheva,Ivailo Tournev |
|
| Perspectives in Medicine. 2012; 1(1-12): 431 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 5 |
Four-dimensional ultrasound calf muscle imaging in patients with genetic types of distal myopathy |
|
|
| Titianovaa, E. and Chamovac, T. and Guergueltchevac, V. and Tournevc, I. |
|
| Perspectives in Medicine. 2012; 1-12: 431-434 |
|
| [Pubmed] [Google Scholar] |
|
| 6 |
Affected muscle fibers in Nonaka myopathy with endoplasmic reticulum stress |
|
|
| Chen, J.-J. and Zhao, D.-H. and Wang, Z.-X. and Hong, D.-J. and Yuan, Y. |
|
| Chinese Journal of Neurology. 2012; 45(1): 11-14 |
|
| [Pubmed] [Google Scholar] |
|
| 7 |
Multifocal motor neuropathy |
|
|
| Nguyen, T.P. and Chaudhry, V. |
|
| Neurology India. 2011; 59(5): 700-706 |
|
| [Pubmed] [Google Scholar] |
|
| 8 |
169th ENMC International Workshop Rare Structural Congenital Myopathies 6-8 November 2009, Naarden, The Netherlands |
|
|
| Goebel, H.H. and Bönnemann, C.G. |
|
| Neuromuscular Disorders. 2011; 21(5): 363-374 |
|
| [Pubmed] [Google Scholar] |
|
| 9 |
Oculopharyngodistal myopathy is a distinct entity: Clinical and genetic features of 47 patients |
|
|
| Durmus, H. and Laval, S.H. and Deymeer, F. and Parman, Y. and Kiyan, E. and Gokyigiti, M. and Ertekin, C. and Ercan, I. and Solakoglu, S. and Karcagi, V. and Straub, V. and Bushby, K. and Lochmüller, H. and Serdaroglu-Oflazer, P. |
|
| Neurology. 2011; 76(3): 227-235 |
|
| [Pubmed] [Google Scholar] |
|
| 10 |
169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands |
|
|
| Hans H. Goebel,Carsten G. Bönnemann |
|
| Neuromuscular Disorders. 2011; 21(5): 363 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 11 |
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 |
|
|
| |
|
| Human Mutation. 2011; : n/a |
|
| [HTML Full text] [Google Scholar] [DOI] |
|
| 12 |
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies |
|
|
| Véronique Bolduc,Gareth Marlow,Kym M. Boycott,Khalil Saleki,Hiroshi Inoue,Johan Kroon,Mitsuo Itakura,Yves Robitaille,Lucie Parent,Frank Baas,Kuniko Mizuta,Nobuyuki Kamata,Isabelle Richard,Wim H.J.P. Linssen,Ibrahim Mahjneh,Marianne de Visser,Rumaisa Bashir,Bernard Brais |
|
| The American Journal of Human Genetics. 2010; 86(2): 213 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 13 |
Distal myopathy with rimmed vacuoles: Report on clinical characteristics in 23 cases |
|
|
| Nalini, A. and Gayathri, N. and Dawn, R. |
|
| Neurology India. 2010; 58(2): 235-241 |
|
| [Pubmed] [Google Scholar] |
|
| 14 |
Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies |
|
|
| Bolduc, V., Marlow, G., Boycott, K.M., Saleki, K., Inoue, H., Kroon, J., Itakura, M., Brais, B. |
|
| American Journal of Human Genetics. 2010; 86(2): 213-221 |
|
| [Pubmed] [Google Scholar] |
|
| 15 |
Safety and in vivo Expression of a GNE-Transgene: A Novel Treatment Approach for Hereditary Inclusion Body Myopathy-2 |
|
|
| Anagha P. Phadke,Chris Jay,Salina J. Chen,Courtney Haddock,Zhaohui Wang,Yang Yu,Derek Nemunaitis,Gregory Nemunaitis,Nancy S. Templeton,Neil Senzer,Phillip B. Maples,Alex W. Tong,John Nemunaitis |
|
| Gene Regulation and Systems Biology. 2009; 3: GRSB.S2210 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
