Спинальная мышечная атрофия, профилактика и лечение осложнений, новые возможности патогенетического лечения
Спинальная мышечная атрофия, профилактика и лечение осложнений, новые возможности патогенетического лечения
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Список литературы
1. Simard L. The Genetics of SMA. 2007.
2. Prior T.W. Spinal muscular atrophy diagnostics. J Child Neurology 2007; 12 (8): 952–6.
3. Sumner CJ. Therapeutics development for spinal muscular atrophy. NeuroRx 2006; 3: 235–45.
4. Panigrahi I, Kesari A, Phadke SR, Mittal B. Clinical and molecular diagnosis of spinal muscular atrophy. Neurol India 2002; 50 (2): 117–22. J Eur J Hum Genet 2007; 15 (10): 1054–62.
5. Wang CH, Finkel RS, Bertini ES, Schroth M et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol 2007; 22: 1027.
6. Lefebvre S, Burglen L, Reboullet S et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155–65.
7. Hofmann Y, Wirth B. sn RNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet 2002; 11 (17): 2037–49.
8. Mailman MD, Heinz JW, Papp AC et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002; 4 (1): 20–6.
9. Monani UR, Lorson CL, Parsons DW et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999; 8: 1177–83.
10. Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol 2008; 116 (3): 223–34.
11. Lefebvre S, Burlet P, Liu Q et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997; 16: 265–9.
12. Wirth B, Brichta L. Spinal muscular atrophy: from gene to therapy Pediatr Neurol 2006; 13 (2): 121–31.
13. Hirtz, Iannaccone S, AAN F, Heemskerk J et al. Challenges and opportunities in clinical trials for spinal muscular atrophy. Neurology 2005; 65: 1352–7.
14. Brichta Y, Hofmann1 E, Hahnen FA et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003; 12 (19): 2481–9.
2. Prior T.W. Spinal muscular atrophy diagnostics. J Child Neurology 2007; 12 (8): 952–6.
3. Sumner CJ. Therapeutics development for spinal muscular atrophy. NeuroRx 2006; 3: 235–45.
4. Panigrahi I, Kesari A, Phadke SR, Mittal B. Clinical and molecular diagnosis of spinal muscular atrophy. Neurol India 2002; 50 (2): 117–22. J Eur J Hum Genet 2007; 15 (10): 1054–62.
5. Wang CH, Finkel RS, Bertini ES, Schroth M et al. Consensus Statement for Standard of Care in Spinal Muscular Atrophy. J Child Neurol 2007; 22: 1027.
6. Lefebvre S, Burglen L, Reboullet S et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995; 80: 155–65.
7. Hofmann Y, Wirth B. sn RNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum Mol Genet 2002; 11 (17): 2037–49.
8. Mailman MD, Heinz JW, Papp AC et al. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med 2002; 4 (1): 20–6.
9. Monani UR, Lorson CL, Parsons DW et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet 1999; 8: 1177–83.
10. Simic G. Pathogenesis of proximal autosomal recessive spinal muscular atrophy. Acta Neuropathol 2008; 116 (3): 223–34.
11. Lefebvre S, Burlet P, Liu Q et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat Genet 1997; 16: 265–9.
12. Wirth B, Brichta L. Spinal muscular atrophy: from gene to therapy Pediatr Neurol 2006; 13 (2): 121–31.
13. Hirtz, Iannaccone S, AAN F, Heemskerk J et al. Challenges and opportunities in clinical trials for spinal muscular atrophy. Neurology 2005; 65: 1352–7.
14. Brichta Y, Hofmann1 E, Hahnen FA et al. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Hum Mol Genet 2003; 12 (19): 2481–9.
Авторы
С.Б.Артемьева
Московская областная психоневрологическая больница для детей с поражением центральной нервной системы и нарушением психики
Московская областная психоневрологическая больница для детей с поражением центральной нервной системы и нарушением психики
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