ライフサイエンスコーパス: Batten

1 Batten disease (juvenile-onset neuronal ceroid lipofusci

2 Batten disease is a severe autosomal recessive neurodege

3 Batten disease is characterized by massive lysosomal acc

4 Batten disease or neuronal ceroid lipofuscinoses (NCL) a

5 Batten disease, also known as juvenile ceroid-lipofuscin

6 Batten disease, or juvenile neuronal ceroid lipofuscinos

7 Batten's disease is the most common progressive encephal

8 Batten's disease, one of the most common recessively inh

9 nce protein function and possibly ameliorate Batten disease pathogenesis.

10 ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of autosomal recessive neuro

11 oid lipofuscinoses (JNCL), commonly known as Batten disease, is a progressive neurodegenerative disor

12 ipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurod

13 ge disorders, which are often referred to as Batten disease.

14 Multiple gene defects cause Batten disease.

15 Here we used normal and CLN5 Batten disease affected sheep to demonstrate the use of

16 sociated with the neurodegenerative disorder Batten disease.

17 sponsible for the neurodegenerative disorder Batten disease; however, the molecular basis of this dis

18 of the childhood neurodegenerative disorder, Batten disease, generated for this study.

19 icrosatellite marker D16S298; 96% of Finnish Batten's disease patients carry allele 6 at this marker.

20 Although the CLN3 gene for Batten disease, the most common inherited neurovisceral

21 In studying a mouse model for Batten disease, we report the presence of an autoantibod

22 The CLN3 gene, which is responsible for Batten disease, has been positionally cloned.

23 n be considered for developing a therapy for Batten disease.

24 ine levels would be of therapeutic value for Batten disease.

25 of 20 out of 20 individuals tested who have Batten disease.

26 BTN1 (btn1-delta), an ortholog of the human Batten disease gene CLN3, resulted in a decrease in vacu

27 isiae encodes an ortholog of CLN3, the human Batten disease gene.

28 o clarify the origin of CAA abnormalities in Batten disease.

29 t homolog to human CLN3 that is defective in Batten disease, localizes to the vacuole.

30 an alternative CLN3-like (CLN3L) product in Batten disease.

31 a protein is identical to that recognized in Batten disease and Cln3-/- brain.

32 e primary biochemical defect that results in Batten disease.

33 roid lipofuscinosis (also known as infantile Batten disease).

34 ronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage

35 the majority of patients (The International Batten Disease Consortium 1995).

36 enile neuronal ceroid lipofuscinosis (JNCL), Batten disease, is an autosomal recessive lysosomal stor

37 -onset neuronal ceroid lipofuscinosis (JNCL; Batten disease) features hallmark membrane deposits and

38 Juvenile Batten disease (JNCL) is an autosomal recessive disease

39 Juvenile Batten disease is a neurodegenerative disease caused by

40 Juvenile Batten disease is an autosomal recessive pediatric neuro

41 for the neurodegenerative disorder juvenile Batten disease.

42 report that lysosomes isolated from juvenile Batten disease lymphoblasts are only defective for argin

43 lts suggest that the CLN3 defect in juvenile Batten disease may affect how intracellular levels of ar

44 al ceroid lipofuscinosis (JNCL), or juvenile Batten disease, is a pediatric lysosomal storage disease

45 s established from individuals with juvenile Batten disease (JNCL) bearing mutations in CLN3 and yeas

46 lular abnormalities associated with juvenile Batten disease and Shwachman-Bodian-Diamond syndrome.

47 , established from individuals with juvenile Batten disease-bearing mutations in CLN3, but not age-ma

48 cells derived from individuals with juvenile Batten disease.

49 Neuronal ceroid lipofuscinosces/Batten disease (NCL) is a devastating group of neurodege

50 oid-lipofuscinoses state in mammals and man (Batten disease), in which subunit c accumulates in lysos

51 odel of neuronal ceroid lipofuscinosis (NCL, Batten disease) caused by a mutation in CLN5 In humans,

52 Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are collectively the most frequent autos

53 lysosomal storage diseases, including NPC2, Batten (ceroid lipofuscinosis, neuronal 2, CLN2), Fabry,

54 s a 1kb deletion, which is carried by 81% of Batten's disease patients.

55 cally relevant point mutations, causative of Batten disease, do not affect protein trafficking but ra

56 ed pH homeostasis is the underlying cause of Batten disease.

57 t gene analysis in the prenatal diagnosis of Batten's disease.

58 ere found in the electroencephalographies of Batten disease affected sheep.

59 inistration of trehalose to a mouse model of Batten disease, a prototypical neurodegenerative disease

60 facilitate the creation of a mouse model of Batten disease.

61 ance of these results to the pathogenesis of Batten disease is discussed.

62 ion of CLN3 function and the pathogenesis of Batten disease.

63 Furthermore, the severity of Batten disease in humans and the degree of ANP resistanc

64 east can be used as a model for the study of Batten disease.

65 otor skills, the first presenting symptom of Batten disease is vision loss.

66 s process leads to the signs and symptoms of Batten's disease.

67 nile neuronal ceroid lipofuscinosis (JNCL or Batten disease) caused by mutations in the CLN3 gene is

68 nile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is one of the most common progressive ne

69 nile neuronal ceroid lipofuscinosis (JNCL or Batten disease), a neurodegenerative disease of childhoo

70 nile neuronal ceroid lipofuscinosis (JNCL or Batten disease), an early onset neurodegenerative disord

71 le neuronal ceroid lipofuscinosis (JNCL), or Batten disease, is a neurodegenerative disease resulting

72 r juvenile neuronal ceroid lipofuscinosis or Batten disease.

73 n as neuronal ceroid lipofuscinosis (NCL) or Batten disease has been identified.

74 t of neuronal ceroid lipofuscinosis (NCL) or Batten disease, due to defects in a putative new gene, C

75 uman neuronal ceroid lipofuscinosis (NCL) or Batten disease.

76 Pathologically, Batten disease is characterized by lysosomal storage of

77 p is located in the vacuole, we suggest that Batten disease is caused by a defect in vacuolar (lysoso

78 The Batten disease gene, CLN3, was recently isolated, and fo

79 Using the yeast model for the Batten disease, we have determined that although btn1-De

80 hromosomal mapping of a mouse homolog of the Batten disease gene, CLN3.

81 Queen Square, he became the director of the Batten Unit, continuing his interest in respiratory phys

82 ctron microscopy of the fetus showed typical Batten's disease changes.

83 al loss of GABAergic neurons associated with Batten disease.

84 epileptiform activity seen in children with Batten disease and demonstrate the translational relevan

85 is overexpressed in brains of patients with Batten disease and in Cln3-/- mouse brain, binds to the

86 A Finnish woman with a son with Batten's disease came for genetic counselling for her cu