ライフサイエンスコーパス: Leigh syndrome

1 ally associated with generalized dystonia or Leigh syndrome.

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

3 thalamus, putamen, and brainstem resembling Leigh syndrome.

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

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

6 CcO deficiency and the neurological disorder Leigh syndrome.

7 disorders and neurological diseases such as Leigh Syndrome.

8 e range of clinical presentations, including Leigh syndrome.

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

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

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

12 etinitis pigmentosa and maternally inherited Leigh syndrome.

13 neonatal deaths and one surviving child with Leigh syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

39 Leigh syndrome is the most common pediatric presentation

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

41 Leigh syndrome (LS) is a severe neurodegenerative disord

42 Leigh syndrome (LS) is a subacute necrotizing encephalom

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

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

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

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

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

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

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

50 In Leigh syndrome patient fibroblasts, with a recessive NDU

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

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

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

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

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

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

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

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

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

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

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

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