ライフサイエンスコーパス: myoclonus epilepsy

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1 ata sets for cystic fibrosis and progressive myoclonus epilepsy.

2 disease, Friedreich ataxia, and progressive myoclonus epilepsy.

3 comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel m

4 nerative disease that results in progressive myoclonus epilepsy and death.

5 n this study CNS tissues from a patient with myoclonus epilepsy and ragged red fibers (MERRF) syndrom

6 a disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either th

7 Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A or E

8 disease (LD) is a fatal form of progressive myoclonus epilepsy caused by recessive mutations in eith

9 Lafora disease is a fatal, progressive myoclonus epilepsy caused in ~90% of cases by mutations

10 LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of

11 is an autosomal recessive, fatal progressive myoclonus epilepsy characterized by the intracellular bu

12 Lafora disease (LD) is a fatal progressive myoclonus epilepsy characterized neuropathologically by

13 on but may also be seen in Lafora's disease (myoclonus epilepsy), cyanamide alcohol aversion therapy,

14 CBD of laforin likely result in progressive myoclonus epilepsy due to mis-localization of phosphatas

15 el for human Unverricht-Lundborg progressive myoclonus epilepsy (EPM1) on 21q22.3 nor for spinocerebe

16 5, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25.

17 Lafora disease (progressive myoclonus epilepsy of Lafora type) is an autosomal reces

18 The gene responsible for progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1

19 Progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1

20 ickle 1 (Pk1) is associated with progressive myoclonus epilepsy (PME) in humans, and its reduced gene

21 Progressive myoclonus epilepsy (PME) is a syndrome characterized by

22 gregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia.

23 Progressive myoclonus epilepsies (PMEs) are a group of rare, inherit

24 ene ( CSTB ) are responsible for progressive myoclonus epilepsy type 1 (EPM1; MIM 254800).

25 in, leading to neurodegeneration in mice and myoclonus epilepsy with dementia in humans.

26 Lafora disease is a progressive myoclonus epilepsy with onset in the teenage years follo

27 Lafora disease is a progressive myoclonus epilepsy with onset typically in the second de

28 cidosis and stroke-like episodes (MELAS) and myoclonus epilepsy with ragged-red fibers (MERRF).

29 E) resulted, at age 13 years, in progressive myoclonus epilepsy, with many inclusions present in almo

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