ライフサイエンスコーパス: familial dysautonomia

1 onin is responsible for the milder course in familial dysautonomia.

2 Here, we assess CG-2 as a candidate for familial dysautonomia.

3 est subunit of human Elongator (Elp1) causes familial dysautonomia, a severe recessive neuropathy.

4 as autism spectrum disorders, schizophrenia, familial dysautonomia, and Alzheimer's disease.

5 Other syndromes such as Klippel-Feil, familial dysautonomia, and Marfan syndrome demonstrate h

6 neuropathy with clinical features similar to familial dysautonomia as well as contractures, we identi

7 nscript CG-2 (C9ORF5), was isolated from the familial dysautonomia candidate region on 9q31 using a c

8 ction and direct genomic sequencing from the familial dysautonomia candidate region on 9q31.

9 AN III), also known as Riley-Day syndrome or familial dysautonomia, do not have functional muscle spi

10 defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-

11 ploring why the Elp1 gene that is mutated in familial dysautonomia (FD) causes peripheral neuropathy.

12 ere, we analyze the mechanism whereby IKBKAP-familial dysautonomia (FD) exon 20 inclusion is specific

13 Recent research on familial dysautonomia (FD) has focused on the developmen

14 The autosomal recessive disorder familial dysautonomia (FD) has recently been demonstrate

15 Familial dysautonomia (FD) is a currently untreatable, n

16 Familial dysautonomia (FD) is a debilitating disorder th

17 Familial dysautonomia (FD) is a devastating developmenta

18 Familial dysautonomia (FD) is a devastating disorder cau

19 Familial dysautonomia (FD) is a rare but fatal periphera

20 Familial dysautonomia (FD) is a rare genetic neurologic

21 Familial dysautonomia (FD) is a rare neurodegenerative d

22 Familial dysautonomia (FD) is a rare recessive neurodeve

23 Familial dysautonomia (FD) is a rare sensory and autonom

24 Familial dysautonomia (FD) is a recessive neurodegenerat

25 Familial dysautonomia (FD) is a sensory and autonomic ne

26 Familial dysautonomia (FD) is a severe hereditary sensor

27 Familial dysautonomia (FD) is a severe neurodegenerative

28 Familial dysautonomia (FD) is an autosomal recessive neu

29 Familial dysautonomia (FD) is an autosomal recessive neu

30 Familial dysautonomia (FD) is caused by mutations in IKB

31 Familial dysautonomia (FD) is characterized by severe an

32 Familial dysautonomia (FD) is the best-known and most co

33 Familial dysautonomia (FD) is the most prevalent form of

34 ch was used to generate and purify iNCs from familial dysautonomia (FD) patient fibroblasts.

35 comparable defects occur in fibroblasts from Familial Dysautonomia (FD) patients bearing an autosomal

36 to model neuropathy in the genetic disorder familial dysautonomia (FD), (3) to show parasymN dysfunc

37 Familial dysautonomia (FD), a devastating hereditary sen

38 Familial dysautonomia (FD), a rare neurodevelopmental an

39 Cs that were generated from individuals with familial dysautonomia (FD), a rare, fatal genetic disord

40 protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and auto

41 Familial dysautonomia (FD), also known as HSAN type III,

42 ontribute to the high morbidity/mortality of familial dysautonomia (FD), the mechanisms remain unclea

43 s in human Elp1p (IKAP) are a known cause of familial dysautonomia (FD).

44 with temperature and sweating dysfunction in familial dysautonomia (FD).

45 Familial dysautonomia (FD; also known as "Riley-Day synd

46 ensory and autonomic neuropathy type III, or familial dysautonomia [FD; Online Mendelian Inheritance

47 Using fibroblasts from patients with familial dysautonomia (hereditary sensory and autonomic

48 n is significantly more abundant in cells of familial dysautonomia patients with IKBKAP (I-kappa-B ki

49 expression were detected for either gene in familial dysautonomia patients.

50 of diseases like spinal muscular atrophy and familial dysautonomia that allowed partial modeling of t