ライフサイエンスコーパス: juvenile myoclonic epilepsy

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1 D) subunits, which causes autosomal dominant juvenile myoclonic epilepsy.

2 e trafficking, leading to autosomal dominant juvenile myoclonic epilepsy.

3 abnormalities in the medial frontal lobe in juvenile myoclonic epilepsy.

4 ognitive effort can cause myoclonic jerks in juvenile myoclonic epilepsy.

5 ings, and so constitutes an endophenotype of juvenile myoclonic epilepsy.

6 tment of idiopathic generalized epilepsy and juvenile myoclonic epilepsy.

7 ized epilepsy with febrile seizures plus and juvenile myoclonic epilepsy.

8 human homologues are related to the cause of juvenile myoclonic epilepsy.

9 ation R482X was identified in a patient with juvenile myoclonic epilepsy.

10 Twenty patients with juvenile myoclonic epilepsy, 10 patients each with child

11 types of epilepsy, 226 patients with either juvenile myoclonic epilepsy, absence epilepsy, or febril

12 D (AD), causes an autosomal dominant form of juvenile myoclonic epilepsy (ADJME).

13 between cortical regions in 30 patients with juvenile myoclonic epilepsy and 26 healthy controls.

14 imaging, in a cohort of 28 participants with juvenile myoclonic epilepsy and detected changes in an a

15 Juvenile myoclonic epilepsy and the EEG trait segregated

16 provide evidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5- to

17 functions has been reported in patients with juvenile myoclonic epilepsy and their unaffected sibling

18 Individuals with autosomal dominant juvenile myoclonic epilepsy are heterozygous for a GABA(

19 uch as benign familial neonatal convulsions, juvenile myoclonic epilepsy, as well as benign epilepsy

20 main protein Jerky, previously implicated in juvenile myoclonic epilepsy development.

21 l, neuropsychological and imaging studies in juvenile myoclonic epilepsy have consistently pointed to

22 rmined homogenous patient populations (PAX6, juvenile myoclonic epilepsy) have strengthened the link

23 Juvenile myoclonic epilepsy is a common type of idiopath

24 Juvenile myoclonic epilepsy is a heritable idiopathic ge

25 A form of autosomal dominant juvenile myoclonic epilepsy is caused by a nonconservati

26 Juvenile myoclonic epilepsy is the most common idiopathi

27 Juvenile myoclonic epilepsy is the most frequent idiopat

28 The implication is that juvenile myoclonic epilepsy (JME) does not exist as the

29 Adults with juvenile myoclonic epilepsy (JME) have subtle brain stru

30 Juvenile myoclonic epilepsy (JME) is a common form of ge

31 Juvenile myoclonic epilepsy (JME) is a distinctive and c

32 Further, 40% of individual patients with juvenile myoclonic epilepsy (JME), a syndrome of IGE in

33 The IGEs that we studied included juvenile myoclonic epilepsy (JME), epilepsy with only ge

34 The IGEs included juvenile myoclonic epilepsy (JME), juvenile absence epil

35 t two loci were segregating in subjects with juvenile myoclonic epilepsy (JME), one predisposing to g

36 including childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME), pure febrile seizures

37 gen (HLA) markers were genetically linked to juvenile myoclonic epilepsy (JME); this was confirmed in

38 dy subjects with two forms of IGE, including juvenile myoclonic epilepsy (n = 93) and absence epileps

39 were found in eight out of 20 patients with juvenile myoclonic epilepsy, one out of 10 patients with

40 rs, 10 of whom were clinically affected with juvenile myoclonic epilepsy or presented with subclinica

41 Patients with juvenile myoclonic epilepsy showed increased functional

42 ars, median 40) of 11 of those patients with juvenile myoclonic epilepsy (six female; age range 22-54

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