ライフサイエンスコーパス: dominant optic atrophy

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

16 Dominant optic atrophy (DOA) and axonal peripheral neuro

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

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

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

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

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

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

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

24 Dominant optic atrophy is a blinding disease due to the

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

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

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

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

29 Individuals with dominant optic atrophy plus phenotypes also had signific

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

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

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