ライフサイエンスコーパス: myotubular myopathy

コーパス検索結果 (１語後でソート)

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

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

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

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

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

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

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

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

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

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

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

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

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

14 Myotubular myopathy is a prototypical disorder of phosph

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

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

17 Myotubular myopathy (MTM) is a devastating pediatric neu

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

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

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

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

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

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

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

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

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

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

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

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