Works matching DE "ORNITHINE aminotransferase deficiency"
Results: 28
CrossTalk proposal: The dominant mechanism causing disuse muscle atrophy is decreased protein synthesis.
- Published in:
- 2014
- By:
- Publication type:
- Other
CrossTalk opposing view: The dominant mechanism causing disuse muscle atrophy is proteolysis.
- Published in:
- 2014
- By:
- Publication type:
- Other
Rebuttal from Michael B. Reid, Andrew R. Judge and Sue C. Bodine.
- Published in:
- 2014
- By:
- Publication type:
- Other
Neuronal Atrophy Early in Degenerative Ataxia Is a Compensatory Mechanism to Regulate Membrane Excitability.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 32, p. 11292, doi. 10.1523/JNEUROSCI.1357-15.2015
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- Publication type:
- Article
Atypical Presentation and Delayed Diagnosis of Gyrate Atrophy: Case Reports of Two Siblings.
- Published in:
- Beyoglu Eye Journal, 2023, v. 8, n. 4, p. 301, doi. 10.14744/bej.2023.72473
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- Publication type:
- Article
Hyperreflective Ganglion Cell Layer Band in Gyrate Atrophy.
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- Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 10, p. 598, doi. 10.3928/23258160-20240528-04
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- Publication type:
- Article
Differential processing of natural scenes in posterior cortical atrophy and in Alzheimer's disease, as measured with a saccade choice task.
- Published in:
- Frontiers in Integrative Neuroscience, 2014, v. 8, p. 1, doi. 10.3389/fnint.2014.00060
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- Publication type:
- Article
Novel Alpha-Synuclein Oligomers Formed with the Aminochrome-Glutathione Conjugate Are Not Neurotoxic.
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- Neurotoxicity Research, 2019, v. 35, n. 2, p. 432, doi. 10.1007/s12640-018-9969-0
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- Publication type:
- Article
Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.
- Published in:
- Molecular Neurodegeneration, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13024-015-0038-3
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- Publication type:
- Article
Clinical Evaluation of Specific Oral Manifestations in Pediatric Patients with Ascertained versus Potential Coeliac Disease: A Cross-Sectional Study.
- Published in:
- Gastroenterology Research & Practice, 2014, p. 1, doi. 10.1155/2014/934159
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- Publication type:
- Article
Multimodal imaging of foveoschisis and macular pseudohole associated with gyrate atrophy: a family report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Retinal Detachment Due To Gyrate Atrophy.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Right Temporal Lobe Atrophy: A Case That Initially Presented as Excessive Piety.
- Published in:
- Clinical Neuropsychologist, 2015, v. 29, n. 7, p. 1053, doi. 10.1080/13854046.2015.1104387
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- Publication type:
- Article
A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
- Published in:
- Clinical Genetics, 2015, v. 87, n. 2, p. 192, doi. 10.1111/cge.12374
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- Publication type:
- Article
Detection of Intragenic SMN1 Mutations in Spinal Muscular Atrophy Patients With a Single Copy of SMN1.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 5, p. 558, doi. 10.1177/0883073814521297
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- Publication type:
- Article
Focal CA3 hippocampal subfield atrophy following LGI1 VGKC-complex antibody limbic encephalitis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Atypical multiple system atrophy is a new subtype of frontotemporal lobar degeneration: frontotemporal lobar degeneration associated with α-synuclein.
- Published in:
- Acta Neuropathologica, 2015, v. 130, n. 1, p. 93, doi. 10.1007/s00401-015-1442-z
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- Publication type:
- Article
Ultrawide field fluorescein angiogram in a family with gyrate atrophy and foveoschisis.
- Published in:
- Oman Journal of Ophthalmology, 2016, v. 9, n. 2, p. 104, doi. 10.4103/0974-620X.184529
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- Publication type:
- Article
Non-familial, spinal segmental muscular atrophy in juvenile and young subjects.
- Published in:
- Contact Dermatitis (01051873), 2015, v. 72, n. 3, p. 336
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- Publication type:
- Article
Gyrate Atrophy of the Choroid and Retina With Cystoid Macular Edema and Unilateral Optic Disc Drusen.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Oligomeric State and Thermal Stability of Apo- and Holo- Human Ornithine δ-Aminotransferase.
- Published in:
- Protein Journal, 2017, v. 36, n. 3, p. 174, doi. 10.1007/s10930-017-9710-5
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- Publication type:
- Article
Progression of subcortical atrophy and iron deposition in multiple system atrophy: a comparison between clinical subtypes.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 8, p. 1876, doi. 10.1007/s00415-015-7785-5
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- Publication type:
- Article
Arginine-Restricted Therapy Resistant Bilateral Macular Edema Associated with Gyrate Atrophy.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Potential role of lampalizumab for treatment of geographic atrophy.
- Published in:
- Clinical Ophthalmology, 2015, v. 9, p. 1049, doi. 10.2147/OPTH.S59725
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- Publication type:
- Article
Ultrawide-field fundus photography of the first reported case of gyrate atrophy from Australia.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Cognitive reserve moderates the impact of subcortical gray matter atrophy on neuropsychological status in multiple sclerosis.
- Published in:
- Multiple Sclerosis Journal, 2016, v. 22, n. 1, p. 36, doi. 10.1177/1352458515579443
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- Publication type:
- Article
Medical and patient attitude towards vaginal atrophy: the AGATA study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
RARS2 mutations in a sibship with infantile spasms.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 5, p. e97, doi. 10.1111/epi.13358
- By:
- Publication type:
- Article