ライフサイエンスコーパス: dominant optic atrophy

1 chanisms of axonal degeneration in CMT2A and dominant optic atrophy.

2 in OPA1, the most common cause of autosomal dominant optic atrophy.

3 nt, we identify a genetic model of autosomal dominant optic atrophy.

4 in the OPA1 gene are the prevailing cause of dominant optic atrophy, a hereditary disease in which pr

5 OPA1 is mutated in dominant optic atrophy, a neurodegenerative disease of t

6 tic mutation is the cause of human autosomal dominant optic atrophy (ADOA) and Charcot-Marie-Tooth sy

7 ditary optic neuropathy (LHON) and Autosomal dominant optic atrophy (ADOA) are caused by mutant mitoc

8 Autosomal dominant optic atrophy (ADOA) is the most prevalent here

9 Autosomal dominant optic atrophy (ADOA) starts in early childhood

10 Autosomal dominant optic atrophy (ADOA), a form of progressive bil

11 Mutations in OPA1 lead to autosomal dominant optic atrophy (ADOA), an important cause of inh

12 In autosomal dominant optic atrophy (ADOA), caused by mutations in th

13 some 3q28-qter are associated with autosomal dominant optic atrophy (ADOA), the most common inherited

14 eans of diagnosing and phenotyping autosomal-dominant optic atrophy (ADOA).

15 -Tooth type 2A, a peripheral neuropathy, and dominant optic atrophy, an inherited optic neuropathy, r

16 two main and most recognised phenotypes are dominant optic atrophy and Leber hereditary optic neurop

17 underlying the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidat

18 s, Charcot-Marie-Tooth type 2A and autosomal dominant optic atrophy, are caused by mutations in mitof

19 -related GTPase OPA1 is mutated in autosomal dominant optic atrophy (DOA) (Kjer type), an inherited n

20 We enrolled 49 patients with LHON, 19 with Dominant Optic Atrophy (DOA) and 22 healthy controls.

21 Dominant optic atrophy (DOA) and axonal peripheral neuro

22 The majority of patients with autosomal dominant optic atrophy (DOA) harbor pathogenic OPA1 muta

23 Autosomal dominant optic atrophy (DOA) is a retinal neuronal degen

24 Dominant optic atrophy (DOA) is the commonest form of in

25 Autosomal dominant optic atrophy (DOA) is the most common form of

26 Autosomal dominant optic atrophy (DOA) is the most common inherite

27 ompare visual and pupil afferent function in dominant optic atrophy (DOA).

28 itase) are associated with isolated forms of Dominant Optic Atrophy (DOA).

29 wing that mutations in SSBP1 cause a form of dominant optic atrophy frequently accompanied with foveo

30 ls of the Opa1(+/-) mouse model of autosomal dominant optic atrophy from as early as 10 months of age

31 cient load was over four times higher in the dominant optic atrophy + group compared to the pure opti

32 Dominant optic atrophy is a blinding disease due to the

33 Dominant optic atrophy is one of the leading causes of c

34 The gene responsible for dominant optic atrophy is the OPA1 gene located on chrom

35 -related guanosine triphosphatase mutated in dominant optic atrophy, is required for the fusion of mi

36 B6;C3-Opa1(Q285STOP), which models autosomal dominant optic atrophy, leads to a 50% reduction in Opa1

37 In contrast, dominant optic atrophy-linked mutant Mid51, which does n

38 rt failure, schizophrenia, epilepsy, cancer, dominant optic atrophy, osteoporosis, and Down's syndrom

39 rve connectivity and that SSBP1 mutations in dominant optic atrophy patients do not permit stable bin

40 Individuals with dominant optic atrophy plus phenotypes also had signific

41 However, the frequency of these syndromal 'dominant optic atrophy plus' variants and the extent of

42 Normal tension glaucoma and dominant optic atrophy share many overlapping clinical f

43 se spinocerebellar ataxia type 28 (SCA28) or dominant optic atrophy type 12 (DOA12), while biallelic