ライフサイエンスコーパス: Leigh syndrome

1 ausative variant for the investigated canine Leigh syndrome.

2 tate levels and inhibited the development of Leigh syndrome.

3 derived cell lines that can be used to study Leigh syndrome.

4 ors that may determine the disease course of Leigh syndrome.

5 efined the disease burden and progression of Leigh syndrome.

6 t can be targeted pharmacologically to treat Leigh syndrome.

7 s in many genes have been shown to result in Leigh syndrome.

8 ally associated with generalized dystonia or Leigh syndrome.

9 AS), and 8993T>G and 13513G>A, implicated in Leigh syndrome.

10 thalamus, putamen, and brainstem resembling Leigh syndrome.

11 ates disease progression in a mouse model of Leigh syndrome.

12 e of human C8ORF38, the loss of which causes Leigh syndrome.

13 CcO deficiency and the neurological disorder Leigh syndrome.

14 disorders and neurological diseases such as Leigh Syndrome.

15 e range of clinical presentations, including Leigh syndrome.

16 een linked to the French-Canadian variant of Leigh syndrome.

17 phy, LGMD2A, Duchenne muscular dystrophy and Leigh syndrome.

18 ome oxidase deficiency that causes a form of Leigh Syndrome.

19 etinitis pigmentosa and maternally inherited Leigh syndrome.

20 neonatal deaths and one surviving child with Leigh syndrome.

21 thology did not show the typical features of Leigh syndrome.

22 disorder and his brother died in infancy of Leigh syndrome.

23 scues SqorDeltaN/DeltaN mice from developing Leigh syndrome.

24 clinical and pathological manifestations of Leigh syndrome.

25 drial protein, were identified as a cause of Leigh syndrome.

26 ubular) tissues, such as in Kearns-Sayre and Leigh syndromes.

27 d to be associated with French Canadian Type Leigh syndrome, a human disorder characterized with neur

28 a necrotizing encephalomyelopathy similar to Leigh syndrome, a mitochondrial disease characterized by

29 inone Fe-S protein 4), typically suffer from Leigh syndrome, a neurodegenerative disease with onset i

30 cy include liver disease, cardiomyopathy and Leigh syndrome, a neurodegenerative disorder characteriz

31 ygous NDUFS1 mutation in an Asian child with Leigh syndrome, a previously identified NDUFS8 mutation

32 chondrial transcript, in three subjects with Leigh syndrome, a progressive neurodegenerative disease

33 x I component NDUFAF2 has been identified in Leigh syndrome, a severe inherited mitochondriopathy.

34 n the Drosophila retina, creating a model of Leigh Syndrome, an early-onset neurodegenerative disorde

35 st common pediatric mitochondrial disease is Leigh syndrome, an episodic, subacute neurodegeneration

36 Thirty-one individuals presented with Leigh syndrome and 7 with neuropathy ataxia retinitis pi

37 diverse biochemical and genetic etiology of Leigh syndrome and associated clinical, neuroradiologica

38 x subjects from four unrelated families with Leigh syndrome and combined OXPHOS defects.

39 fatal progressive encephalopathy resembling Leigh syndrome and die at approximately 60 d of age.

40 nized conditions with such mutations include Leigh syndrome and hereditary tumors such as pheochromoc

41 rosophila model of the mitochondrial disease Leigh syndrome and in a Drosophila model of familial Par

42 n homeostasis may contribute to pathology in Leigh Syndrome and possibly other mitochondrial disorder

43 ription of central nervous system lesions in Leigh syndrome and their biological evolution in view of

44 or fatal neurological presentations such as Leigh syndrome and there are very limited evidence-based

45 nd the genetic heterogeneity associated with Leigh syndrome and to validate the clinical utility of o

46 MTATP6 gene typically cause infantile-onset Leigh syndrome and, occasionally, have onset later in ch

47 had lesions reminiscent of those observed in Leigh syndrome, and five of six individuals who had dila

48 y include Leber hereditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with

49 ebellar syndrome, neuropathologically proven Leigh syndrome, and sudden death in infancy or childhood

50 manifesting with LHON, two manifesting with Leigh syndrome, and two remaining asymptomatic.

51 ng list of primary genetic mutations causing Leigh syndrome associated with complex IV deficiency.

52 tic approaches to treatment of patients with Leigh syndrome caused by mutations in SQOR.

53 Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption fo

54 Seventy-two Leigh syndrome children who completed the Newcastle Paed

55 tic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description

56 ed model of the mitochondrial encephalopathy Leigh syndrome, develop early testicular atrophy caused

57 One patient was found to have Leigh syndrome due to a mutation in MT-ATP6, two affecte

58 Leigh syndrome embodies degenerative disorders with a co

59 diseases such as cancer, dementia, diabetes, Leigh syndrome, etc.

60 ts can result in childhood disorders such as Leigh syndrome, for which there are no effective therapi

61 nimal model that recapitulates components of Leigh Syndrome French Canadian Type (LSFC), a mitochondr

62 Leigh syndrome French Canadian variant (LSFC) is an auto

63 LRP130 is the gene mutated in Leigh syndrome French Canadian variant, a rare neurodege

64 RC, a poorly studied gene that is mutated in Leigh syndrome, French-Canadian type (LSFC).

65 , by using them to identify the gene causing Leigh syndrome, French-Canadian type (LSFC, Online Mende

66 onal patients with childhood- or adult-onset Leigh syndrome further evidences the association of DNAJ

67 The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based

68 ned oxidative phosphorylation deficiency and Leigh syndrome in two unrelated patients.

69 that exhibit many characteristic symptoms of Leigh Syndrome including oxidative stress, neuroinflamma

70 gnostic insights to the current knowledge of Leigh syndrome, including association with overlapping s

71 phenocopies many traits of the human disease Leigh syndrome, including the development of optic atrop

72 show here that LRP130, a protein involved in Leigh syndrome, increases hepatic beta-fatty acid oxidat

73 including heart and brain tissues, from the Leigh syndrome infant.

74 Isogenic MELAS and Leigh syndrome iPS cell lines were generated containing

75 Leigh syndrome is a mitochondrial disease characterized

76 Genetic diagnosis of Leigh syndrome is complicated on account of the vast gen

77 Leigh syndrome is one of the most common neurological ph

78 Leigh syndrome is the most common inherited mitochondria

79 Leigh syndrome is the most common pediatric presentation

80 The French-Canadian variant of COX-deficient Leigh syndrome is unique to the Saguenay-Lac-Saint-Jean

81 Leigh syndrome (LS) is a rare, inherited neurometabolic

82 Leigh syndrome (LS) is a severe manifestation of mitocho

83 Leigh syndrome (LS) is a severe neurodegenerative disord

84 Leigh syndrome (LS) is a subacute necrotizing encephalom

85 Leigh Syndrome (LS) is the most common early-onset, prog

86 SURF1 mutations identified in patients with Leigh syndrome (LS) were evaluated in the yeast homolog

87 al nervous system affectation is critical in Leigh Syndrome (LS), a common MD presentation, leading t

88 We found that the Leigh syndrome (LS)-associated m.10191C variant promotes

89 SURF1 deficiency causes Leigh syndrome (LS, OMIM # 256000), a mitochondrial diso

90 in neurons derived from maternally inherited Leigh syndrome (MILS) patient iPS cells with ATP synthas

91 impaired oxidative phosphorylation, such as Leigh Syndrome, multiple mitochondrial dysfunctions, and

92 a, retinitis pigmentosa-maternally inherited Leigh syndrome (NARP-MILS), and Leber's hereditary optic

93 ense variant in a gene associated with human Leigh syndrome, NDUFS7:c.535G > A or p.(Val179Met).

94 Here, we describe an infant with severe Leigh syndrome, nephrotic syndrome, and CoQ(10) deficien

95 s noted for missense variants causing either Leigh syndrome or isolated optic atrophy, hinting at pos

96 tric patients (92%), often in the context of Leigh syndrome; parkinsonism predominated in 13 adult pa

97 In Leigh syndrome patient fibroblasts, with a recessive NDU

98 DNA (human haplotype D4a) that differed from Leigh syndrome patient haplotype (F1a) at a total of 47

99 They resemble the French-Canadian Leigh syndrome patients in having intermittent severe la

100 er evidences the association of DNAJC30 with Leigh syndrome, previously only reported in a single chi

101 ditis elegans homolog of the French Canadian Leigh Syndrome protein LRPPRC (leucine-rich pentatricope

102 cardiomyopathy and the neurological disorder Leigh syndrome result in impaired stability (S344P) or c

103 Leigh syndrome spectrum (LSS) is a primary mitochondrial

104 as subacute necrotizing encephalomyelopathy, Leigh syndrome spectrum (LSS) is the most frequent manif

105 verity ranging from lethal, infantile-onset (Leigh syndrome spectrum) to milder with survival into ad

106 atients, including normal liver function and Leigh syndrome (subacute necrotizing encephalomyelopathy

107 Unlike classic Leigh syndrome, the French Canadian variant spares the h

108 sease biomarkers in a genetic mouse model of Leigh syndrome, the most common pediatric manifestation

109 erited and broadened the genetic spectrum of Leigh syndrome, the most frequent paediatric mitochondri

110 in the premier animal model of mitochondrial Leigh syndrome, the Ndufs4 knockout (KO) mouse.

111 ents with cytochrome oxidase (COX)-deficient Leigh syndrome, the phenotype associated with SURF1 prot

112 There is no cure for Leigh syndrome; therefore, new therapeutic targets are u

113 A diagnosis of Leigh syndrome was rejected due to normal lactate profil

114 Dystonia, often associated with Leigh syndrome, was the most common extrapyramidal movem

115 In Ndufs4-KO mice, a mouse model of Leigh syndrome, we found that Complex I deficiency led t

116 ier x Chihuahua mixed-breed littermates with Leigh syndrome were investigated.

117 n contributes to childhood disorders such as Leigh Syndrome, whereas mild disruption can extend the l

118 of the patients with mutations in SURF-1 had Leigh syndrome, whereas the 3 patients with SCO2 mutatio

119 (ndufs4) can cause the mitochondrial disease Leigh syndrome, which may be associated with vision loss

120 subjects, each with a clinical diagnosis of Leigh syndrome, who harbor bi-allelic pathogenic variant