ライフサイエンスコーパス: neurodevelopmental disease

1 the microbiome may contribute to symptoms of neurodevelopmental disease.

2 nt studies linking complement mutations with neurodevelopmental disease.

3 regulatory network influencing cognition and neurodevelopmental disease.

4 Fragile X syndrome (FXS) is a neurodevelopmental disease.

5 zyme, and establish a role for USP7 in human neurodevelopmental disease.

6 n studying the molecular mechanisms of human neurodevelopmental disease.

7 nctional changes of brain during aging or in neurodevelopmental disease.

8 impairments may cause brain malformation and neurodevelopmental disease.

9 ontal dysfunction in schizophrenia and other neurodevelopmental disease.

10 at underlying similarities exist among these neurodevelopmental diseases.

11 works of genes associated with cognitive and neurodevelopmental diseases.

12 therapy in devastating neurodegenerative and neurodevelopmental diseases.

13 development and conferring susceptibility to neurodevelopmental diseases.

14 ied in diseases other than cancer, including neurodevelopmental diseases.

15 es are further implicated in ASD and related neurodevelopmental diseases.

16 odifier genes are frequently associated with neurodevelopmental diseases.

17 r handle to investigate circuit disorders in neurodevelopmental diseases.

18 tly enriched in genes and loci implicated in neurodevelopmental diseases.

19 the pathophysiology of neurodegenerative and neurodevelopmental diseases.

20 nt stem cells to model neurodegenerative and neurodevelopmental diseases.

21 involved in global DNA methylation and human neurodevelopmental diseases.

22 ts are implicated in certain psychiatric and neurodevelopmental diseases.

23 f great interest for early onset monogenetic neurodevelopmental diseases.

24 , autoimmune diseases, and neurodegenerative/neurodevelopmental diseases.

25 ctivity are a transdiagnostic key finding in neurodevelopmental diseases, a characterization of imagi

26 model recapitulates early stages of a human neurodevelopmental disease and represents a promising ce

27 ders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to

28 hat disrupt genes associated with congenital neurodevelopmental diseases are poorly understood.

29 olism such as lysosomal storage diseases and neurodevelopmental diseases associated with the mTOR pat

30 eviously unappreciated relationships between neurodevelopmental disease-associated genes in the devel

31 mon inherited form of primary dystonia, is a neurodevelopmental disease caused by a dominant mutation

32 One example is DYT1 dystonia, a neurodevelopmental disease caused by an in-frame deletio

33 the PI3K-mTOR pathway suggests that HME is a neurodevelopmental disease caused by gain-of-function ac

34 Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of

35 - in the pathophysiology of Rett syndrome, a neurodevelopmental disease caused by mutation of the gen

36 emarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de nov

37 Our data identify NONO as a possible neurodevelopmental disease gene and highlight the key ro

38 uronal migration, adding new arenas in which neurodevelopmental disease gene mutation could disrupt c

39 for mutations ascertained from patients with neurodevelopmental disease generally, and intellectual d

40 Further, modeling human genetic neurodevelopmental disease in the mouse has shown how di

41 Autism spectrum disorders (ASD) are complex neurodevelopmental diseases in which different combinati

42 l splicing networks clinically implicated in neurodevelopmental disease, including autism spectrum di

43 en they exert maximal influence, may lead to neurodevelopmental diseases, including epilepsy.

44 y mental disorders and neurodegenerative and neurodevelopmental diseases involve cognitive deficits.

45 r relationship to genes that confer risk for neurodevelopmental disease is unclear.

46 orders, and allows mechanistic dissection of neurodevelopmental diseases linked to chromatin-remodeli

47 Chromosome conformation capture at two neurodevelopmental disease loci, 2q14.1 and 16p11.2, rev

48 use autosomal recessive neurodegenerative or neurodevelopmental disease, making yeast Vps13p an impor

49 ostnatal period by activating a well-defined neurodevelopmental disease pathway and that this phenoty

50 uggest that prenatal infection can act as a "neurodevelopmental disease primer" that is likely releva

51 maturation, which may represent a target for neurodevelopmental disease processes, and a substrate fo

52 length dependent change in expression in the neurodevelopmental disease Rett syndrome (RTT).

53 nal machinery, give rise to the debilitating neurodevelopmental disease Rett syndrome (RTT).

54 This neurodevelopmental disease state exhibits neural circuit

55 ling progress in understanding the causes of neurodevelopmental diseases such as autism, linking gene

56 ctionally diverse and play critical roles in neurodevelopmental diseases such as Rett syndrome and fr

57 They have also been implicated in neurodevelopmental diseases such as schizophrenia and au

58 rearing as a model for the investigation of neurodevelopmental diseases such as schizophrenia.

59 Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1

60 sis complex (TSC) mice, a PI3K-mTOR model of neurodevelopmental disease that is associated with abnor

61 onsiderable genetic heterogeneity underlying neurodevelopmental diseases, there is compelling evidenc

62 re identified among 4,760 trio probands with neurodevelopmental diseases; this is highly unlikely to

63 t progress in modeling neurodegenerative and neurodevelopmental diseases using induced pluripotent st

64 increased CYFIP1 dosage might predispose to neurodevelopmental disease, we studied the consequence o