Suchergebnisse - "Dominant optic atrophy"

PubPharm (166)

1

Genetic underpinnings explored : OPA1 deletion and complex phenotypes on chromosome 3q29

enthalten in: BMC medical genomics | 2024

von Wang, E. | Lin, P. | Wu, P. | +6

2

Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29

enthalten in: BMC medical genomics | 2024

von Wang, E. | Lin, P. | Wu, P. | +6

3

Short Wavelength Automated Perimetry, Standard Automated Perimetry, and Optical Coherence Tomography in Dominant Optic Atrophy

enthalten in: Journal of clinical medicine | 2024

von Lombardo, M. | Cusumano, A. | Mancino, R. | +4

4

Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1

enthalten in: Pediatric nephrology (Berlin, Germany) | 2024

von Shimabukuro, W. | Chinen, Y. | Imanaga, N. | +3

5

Inherited Optic Neuropathies : Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic

enthalten in: Genes | 2024

von Gilhooley, M. | Raoof, N. | Yu-Wai-Man, P. | +1

6

Human retinal organoids with an OPA1 mutation are defective in retinal ganglion cell differentiation and function

enthalten in: Stem cell reports | 2024

von Lei, Q. | Xiang, K. | Cheng, L. | +1

7

Mitochondrial OPA1 Deficiency Is Associated to Reversible Defects in Spatial Memory Related to Adult Neurogenesis in Mice

enthalten in: eNeuro | 2023

von Andraini, T. | Moulédous, L. | Petsophonsakul, P. | +12

8

Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing

enthalten in: American journal of ophthalmology case reports | 2023

von Brodsky, M. | Olson, R. | Asumda, F. | +3

9

The importance of genome sequencing : unraveling SSBP1 variant missed by exome sequencing

enthalten in: Ophthalmic genetics | 2023

von Jun, J. | Seo, Y. | Han, S. | +1

10

Single intravitreal injection of rAAV2-OPA1 for autosomal dominant optic atrophy : Single intravitreal injection of rAAV2-OPA1 for autosomal dominant optic atrophy

enthalten in: WHO International Clinical Trials Registry Platform | 2023

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