| Tài liệu tham khảo |
Loại |
Chi tiết |
| 1. Falzarano M.S., Scotton C., Passarelli C., et al. (2015). Duchenne Muscular Dystrophy: From Diagnosis to Therapy. Mol Basel Switz, 20(10), 18168–18184 |
Sách, tạp chí |
| Tiêu đề: |
Duchenne Muscular Dystrophy: From Diagnosis to Therapy |
| Tác giả: |
Falzarano M.S., Scotton C., Passarelli C., et al |
| Nhà XB: |
Mol Basel Switz |
| Năm: |
2015 |
|
| 2. Matsuo M. (2002). Duchenne and Becker muscular dystrophy: from gene diagnosis to molecular therapy. IUBMB Life, 53(3), 147–152 |
Sách, tạp chí |
| Tiêu đề: |
IUBMB Life |
| Tác giả: |
Matsuo M |
| Năm: |
2002 |
|
| 3. Juan-Mateu J., Gonzalez-Quereda L., Rodriguez M.J., et al. (2015). DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS One, 10(8), e0135189 |
Sách, tạp chí |
| Tiêu đề: |
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations |
| Tác giả: |
Juan-Mateu J., Gonzalez-Quereda L., Rodriguez M.J |
| Nhà XB: |
PloS One |
| Năm: |
2015 |
|
| 4. Sakthivel Murugan S.M., Arthi C., Thilothammal N., et al. (2013). Carrier detection in Duchenne muscular dystrophy using molecular methods. Indian J Med Res, 137(6), 1102–1110 |
Sách, tạp chí |
| Tiêu đề: |
Carrier detection in Duchenne muscular dystrophy using molecular methods |
| Tác giả: |
Sakthivel Murugan S.M., Arthi C., Thilothammal N |
| Nhà XB: |
Indian J Med Res |
| Năm: |
2013 |
|
| 5. Helderman-van den Enden A.T.J.M., van den Bergen J.C., Breuning M.H., et al. (2011). Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level. Clin Genet, 79(3), 236–242 |
Sách, tạp chí |
| Tiêu đề: |
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level |
| Tác giả: |
Helderman-van den Enden A.T.J.M., van den Bergen J.C., Breuning M.H |
| Nhà XB: |
Clin Genet |
| Năm: |
2011 |
|
| 6. Birnkrant D.J., Bushby K., Bann C.M., et al. (2018). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol, 17(3), 251–267 |
Sách, tạp chí |
| Tiêu đề: |
Lancet Neurol |
| Tác giả: |
Birnkrant D.J., Bushby K., Bann C.M., et al |
| Năm: |
2018 |
|
| 7. Bushby K., Finkel R., Birnkrant D.J., et al. (2010). Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol, 9(1), 77–93 |
Sách, tạp chí |
| Tiêu đề: |
Lancet Neurol |
| Tác giả: |
Bushby K., Finkel R., Birnkrant D.J., et al |
| Năm: |
2010 |
|
| 8. Mah J.K. (2016). Current and emerging treatment strategies for Duchenne muscular dystrophy. Neuropsychiatr Dis Treat, 12, 1795–1807 |
Sách, tạp chí |
| Tiêu đề: |
Neuropsychiatr Dis Treat |
| Tác giả: |
Mah J.K |
| Năm: |
2016 |
|
| 9. Massalska D., Zimowski J.G., Roszkowski T., et al. (2017). Prenatal diagnosis of Duchenne and Becker muscular dystrophies:Underestimated problem of the secondary prevention of monogenetic disorders. J Obstet Gynaecol Res, 43(7), 1111–1121 |
Sách, tạp chí |
| Tiêu đề: |
Prenatal diagnosis of Duchenne and Becker muscular dystrophies:Underestimated problem of the secondary prevention of monogenetic disorders |
| Tác giả: |
Massalska D., Zimowski J.G., Roszkowski T |
| Nhà XB: |
J Obstet Gynaecol Res |
| Năm: |
2017 |
|
| 10. Murugan S., Chandramohan A., and Lakshmi B.R. (2010). Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis. Indian J Med Res, 132, 303–311 |
Sách, tạp chí |
| Tiêu đề: |
Use of multiplex ligation-dependent probe amplification (MLPA) for Duchenne muscular dystrophy (DMD) gene mutation analysis |
| Tác giả: |
Murugan S., Chandramohan A., Lakshmi B.R |
| Nhà XB: |
Indian J Med Res |
| Năm: |
2010 |
|
| 11. Janssen B., Hartmann C., Scholz V., et al. (2005). MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics, 6(1), 29–35 |
Sách, tạp chí |
| Tiêu đề: |
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls |
| Tác giả: |
Janssen B., Hartmann C., Scholz V |
| Nhà XB: |
Neurogenetics |
| Năm: |
2005 |
|
| 12. Okubo M., Minami N., Goto K., et al. (2016). Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. J Hum Genet, 61(6), 483–489 |
Sách, tạp chí |
| Tiêu đề: |
J Hum Genet |
| Tác giả: |
Okubo M., Minami N., Goto K., et al |
| Năm: |
2016 |
|
| 13. Giliberto F., Ferreiro V., Massot F., et al. (2011). Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families. Muscle Nerve, 43(4), 510–517 |
Sách, tạp chí |
| Tiêu đề: |
Prenatal diagnosis of Duchenne/Becker muscular dystrophy by short tandem repeat segregation analysis in Argentine families |
| Tác giả: |
Giliberto F., Ferreiro V., Massot F |
| Nhà XB: |
Muscle Nerve |
| Năm: |
2011 |
|
| 14. Harvey B. Sarnat (2010), Nelson Textbook of Pediatrics “Muscular Dystrophy: Duchenne and Becker Muscular Dystrophy,” |
Sách, tạp chí |
| Tiêu đề: |
Nelson Textbook of Pediatrics |
| Tác giả: |
Harvey B. Sarnat |
| Năm: |
2010 |
|
| 15. Hashim R., Shaheen S., Ahmad S., et al. (2011). Comparison of serum creatine kinase estimation with short tandem repeats based linkage analysis in carriers and affected children of Duchenne muscular dystrophy. J Ayub Med Coll Abbottabad JAMC, 23(1), 125–128 |
Sách, tạp chí |
| Tiêu đề: |
Comparison of serum creatine kinase estimation with short tandem repeats based linkage analysis in carriers and affected children of Duchenne muscular dystrophy |
| Tác giả: |
Hashim R., Shaheen S., Ahmad S., et al |
| Nhà XB: |
J Ayub Med Coll Abbottabad JAMC |
| Năm: |
2011 |
|
| 18. Hutton E.M. and Thompson M.W. (1976). Carrier detection and genetic counselling in Duchenne muscular dystrophy: a follow-up study. Can Med Assoc J, 115(8), 749–752 |
Sách, tạp chí |
| Tiêu đề: |
Carrier detection and genetic counselling in Duchenne muscular dystrophy: a follow-up study |
| Tác giả: |
Hutton E.M., Thompson M.W |
| Nhà XB: |
Can Med Assoc J |
| Năm: |
1976 |
|
| 19. Manzur A.Y., Kuntzer T., Pike M., et al. (2008). Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev, (1), CD003725 |
Sách, tạp chí |
| Tiêu đề: |
Glucocorticoid corticosteroids for Duchenne muscular dystrophy |
| Tác giả: |
Manzur A.Y., Kuntzer T., Pike M., et al |
| Nhà XB: |
Cochrane Database Syst Rev |
| Năm: |
2008 |
|
| 20. Rodino-Klapac L.R., Chicoine L.G., Kaspar B.K., et al. (2007). Gene therapy for duchenne muscular dystrophy: expectations and challenges.Arch Neurol, 64(9), 1236–1241 |
Sách, tạp chí |
| Tiêu đề: |
Arch Neurol |
| Tác giả: |
Rodino-Klapac L.R., Chicoine L.G., Kaspar B.K., et al |
| Năm: |
2007 |
|
| 21. Matsuo M., Yagi M., and Takeshima Y. (2003). Treatment of Duchenne Muscular Dystrophy with Oligo- nucleotides against an Exonic Splicing Enhancer Sequence. Basic Appl Myol 13(6), 281-285 |
Sách, tạp chí |
| Tiêu đề: |
Treatment of Duchenne Muscular Dystrophy with Oligo- nucleotides against an Exonic Splicing Enhancer Sequence |
| Tác giả: |
Matsuo M., Yagi M., Takeshima Y |
| Nhà XB: |
Basic Appl Myol |
| Năm: |
2003 |
|
| 22. Bertoni C. (2008). Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides. Front Biosci J Virtual Libr, 13, 517–527 |
Sách, tạp chí |
| Tiêu đề: |
Clinical approaches in the treatment of Duchenne muscular dystrophy (DMD) using oligonucleotides |
| Tác giả: |
Bertoni C |
| Nhà XB: |
Front Biosci J Virtual Libr |
| Năm: |
2008 |
|