ライフサイエンスコーパス: myotubular

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1 tant decrease in succinate levels in patient myotubular cell lines after ASO treatment.

2 have shown that both patient fibroblast and myotubular cell lines displayed an increase in complex I

3 pon ASO treatment, levels of SDHB in patient myotubular cell lines increased to levels observed in co

4 ines increased to levels observed in control myotubular cell lines.

5 Myotubular myopathy (MTM) is a devastating pediatric neu

6 X-linked myotubular myopathy (MTM) is a severe neuromuscular dise

7 in, involved in the pathogenesis of X-linked myotubular myopathy (MTM1) was isolated recently.

8 X-linked myotubular myopathy (XLMTM) is a congenital disorder cau

9 most severe and often fatal X-linked form of myotubular myopathy (XLMTM) is caused by mutations in th

10 treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle d

11 M1 gene encoding myotubularin cause X-linked myotubular myopathy (XLMTM), a well-defined subtype of h

12 ompromised in mice deficient in the X-linked myotubular myopathy (XLMTM)-associated PtdIns(3)P phosph

13 a pediatric disease of skeletal muscle named myotubular myopathy (XLMTM).

14 MTM1 and MTM2 are mutated in X-linked myotubular myopathy and Charcot-Marie-Tooth disease (typ

15 Two different human diseases, X-linked myotubular myopathy and Charcot-Marie-Tooth disease, res

16 for the use of PtdIns 3-kinase inhibitors in myotubular myopathy and suggesting that unbalanced PtdIn

17 mily cause the human neuromuscular disorders myotubular myopathy and type 4B Charcot-Marie-Tooth synd

18 Mutations in the MTM1 gene that cause human myotubular myopathy dramatically reduce the ability of t

19 X-linked myotubular myopathy is a congenital myopathy caused by d

20 Myotubular myopathy is a prototypical disorder of phosph

21 X-linked myotubular myopathy is a severe congenital myopathy caus

22 o provide in vivo evidence in the congenital myotubular myopathy mouse model (knock-out for the myotu

23 ) result in X-linked CNM (XLCNM, also called myotubular myopathy), which promotes severe neonatal hyp

24 X-linked myotubular myopathy, a severe congenital disorder charac

25 tide phosphatase that is mutated in X-linked myotubular myopathy, a severe neonatal disorder in which

26 MTM1 is mutated in X-linked myotubular myopathy, and MTMR2 and MTMR13 are mutated in

27 utated in a subset of patients with X-linked myotubular myopathy, and Sbf1, a newly isolated homologu

28 X-linked myotubular myopathy, the most common severe form of CNM,

29 ember of this family, is mutated in X-linked myotubular myopathy, whereas mutations in the MTM-relate

30 myopathic Mtm1delta4 mouse model of X-linked myotubular myopathy.

31 c of muscle fibers in patients with X-linked myotubular myopathy.

32 is mutated in the genetic disorder, X-linked myotubular myopathy.

33 -193189 promoted the contractile activity of myotubular networks in vitro.

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