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1. Optic Atrophy Classification from Fundus Images with Few-Shot Learning NSTL国家科技图书文献中心

Anirban Dasgupta |  Anwesha Sengupta... -  《Pattern Recognition,Part VII》 -  International Conference on Pattern Recognition - 2025, - 362~374 - 共13页

摘要:Optic Atrophy is a significant cause of visual |  Siamese network architecture for Optic Atrophy detection |  impairment and demands accurate and timely diagnosis for |  effective treatment. However, diagnosis of this condition |  is often carried out by manual inspection by
关键词: Optic atrophy |  Fundus images |  Few-Shot learning |  Data augmentation |  Siamese network

2. Novel in vivo models of autosomal optic atrophy reveal conserved pathological changes in neuronal mitochondrial structure and function NSTL国家科技图书文献中心

Elin L. Strachan |  Eugene T. Dillon... -  《The FASEB Journal》 - 2025,39(7) - e70497~e70497 - 共20页

摘要:Autosomal optic atrophy (AOA) is a form of |  hereditary optic neuropathy characterized by the |  irreversible and progressive degermation of the retinal |  ganglion cells. Most cases of AOA are associated with a |  single dominant mutation in OPA1, which encodes a
关键词: Drosophila; mitochondria; optic atrophy; visual impairment; zebrafish.

3. Serum Neurofilament Light Chain in Patients with Dominant Optic Atrophy - A Case-Control Study NSTL国家科技图书文献中心

Valentin, Katharina |  Aminfar, Haleh... -  《Neuro-ophthalmology》 - 2025,49(3) - 261~267 - 共7页

摘要: cerebrospinal fluid. Dominant optic atrophy (DOA) is | In numerous neurodegenerative disorders | , neurofilaments, especially their subunits such as the |  Neurofilament light chain (NfL), are recognized as significant |  biomarkers of axonal injury when increased in blood or
关键词: Blood biomarker |  serum neurofilament light chain |  dominant optic atrophy |  biomarker |  OPA1

4. Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants NSTL国家科技图书文献中心

Penon-Portmann, Moni... |  Naugle, Kendyl... -  《American journal of medical genetics,Part A》 - 2025,197A(1) - e63846~e63846 - 共7页

摘要: associated with autosomal dominant optic atrophy-3 (OPA3 |  optic atrophy. We report a large family with |  lack of optic atrophy. The analysis of all known |  highlights that optic atrophy is not an obligate feature of | Heterozygous mutations in the OPA3 gene are
关键词: congenital cataracts |  mitochondrial |  neuropathy |  OPA3 |  optic atrophy |  sensorineural hearing loss

5. Development of Microcystoid Macular Degeneration in the Retina of Nonhuman Primates: Time-Course and Associated Pathologies NSTL国家科技图书文献中心

Lavery, Thomas C. M. |  Rasmussen, Carol A.... -  《Current Eye Research》 - 2025,50(1) - 93~100 - 共8页

摘要: idiopathic bilateral optic atrophy. In vivo imaging |  optic atrophy. Following HEA, MMD did not develop | PurposeMicrocystoid macular degeneration (MMD | ) is a condition where cystoid vacuoles develop |  within the inner nuclear layer of the retina in humans
关键词: Microcystic macular degeneration |  experimental glaucoma |  endodiathermy axotomy |  optic atrophy |  inner nuclear layer

6. Erythropoietin for the Treatment of Methanol Toxic Optic Neuropathy: Does It Really Work? A Case Series NSTL国家科技图书文献中心

Badeeb, Nooran O. |  Alharazi, Shaima... -  《Neuro-ophthalmology》 - 2025,49(2) - 132~136 - 共5页

摘要: series to treat methanol optic neuropathy. This study |  diagnosed with methanol optic neuropathy between November |  end vision. Treating methanol optic neuropathy is | Erythropoietin (EPO) has demonstrated |  neuroprotective properties and has been used in small case
关键词: Methanol |  optic neuropathy |  blindness |  toxic optic neuropathy |  optic atrophy |  alcohol

7. Biotinidase Deficiency Induced Optic Neuropathy: A Case Report and Literature Review NSTL国家科技图书文献中心

Cao, Angela A. |  Brown, Meghan M.... -  《Neuro-ophthalmology》 - 2025,49(3) - 224~231 - 共8页

摘要:. Comprehensive ophthalmic examination revealed bilateral optic |  deficiency optic neuropathy published between June 1987 and |  bilateral and progressive optic neuropathy among young | We report a case of a 19-year-old Somali |  American woman who presented with 6 months of progressive
关键词: Biotinidase deficiency |  optic neuropathy |  optic atrophy |  biotin treatment |  optic neuritis

8. Creating Optimal Western Blot Conditions for OPA1 Isoforms in Skeletal Muscle Cells and Tissue NSTL国家科技图书文献中心

Margaret Mungai |  Amber Crabtree... -  《Current protocols.》 - 2025,5(2) - e70004~e70004 - 共11页

摘要:Abstract OPA1 is a dynamin‐related GTPase that |  modulates mitochondrial dynamics and cristae integrity | . Humans carry eight different isoforms of OPA1 and mice |  carry five, all of which are expressed as short‐ or |  long‐form isoforms. These isoforms contribute to OPA1
关键词: isoforms |  muscle tissue |  mitochondria |  optic atrophy‐1 (OPA1) |  western blot

9. Creating Optimal Western Blot Conditions for OPA1 Isoforms in Skeletal Muscle Cells and Tissue NSTL国家科技图书文献中心

Margaret Mungai |  Amber Crabtree... -  《Current Protocols in Cell Biology》 - 2025,5(2) - Creating Optimal/1~Creating Optimal/11 - 共11页

摘要:OPA1 is a dynamin-related GTPase that |  modulates mitochondrial dynamics and cristae integrity | . Humans carry eight different isoforms of OPA1 and mice |  carry five, all of which are expressed as short- or |  long-form isoforms. These isoforms contribute to OPA1
关键词: isoforms |  muscle tissue |  mitochondria |  optic atrophy-1 (OPA1) |  western blot

10. Protein-Variant-Phenotype Study of NBAS Using AlphaFold in the Aspect of SOPH Syndrome NSTL国家科技图书文献中心

Zhozhikov, Leonid |  Vasilev, Filipp... -  《Proteins》 - 2025,93(4) - 871~884 - 共14页

摘要:NBAS gene variants cause phenotypically |  distinct and nonoverlapping conditions, SOPH syndrome and |  ILFS2. NBAS is a so-called "moonlighting" protein |  responsible for retrograde membrane trafficking and nonsense | -mediated decay. However, its three-dimensional model and
关键词: acute liver failure |  AlphaFold |  membrane traffic |  NBAS |  optic atrophy |  SOPH
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