Found: 8
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X-linked disorders with cerebellar dysgenesis.
- Published in:
- Orphanet Journal of Rare Diseases, 2011, v. 6, n. 1, p. 24, doi. 10.1186/1750-1172-6-24
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- Publication type:
- Article
Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2920, doi. 10.1002/ajmg.a.62906
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- Publication type:
- Article
CAPRIN1<sup>P512L</sup> causes aberrant protein aggregation and associates with early-onset ataxia.
- Published in:
- Cellular & Molecular Life Sciences, 2022, v. 79, n. 10, p. 1, doi. 10.1007/s00018-022-04544-3
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- Article
Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise.
- Published in:
- Acta Myologica, 2024, v. 43, n. 3, p. 95, doi. 10.36185/2532-1900-398
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- Article
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts.
- Published in:
- Antioxidants, 2022, v. 11, n. 11, p. 2125, doi. 10.3390/antiox11112125
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- Article
Consensus Statement for Standard of Care in Spinal Muscular Atrophy.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 8, p. 1027, doi. 10.1177/0883073807305788
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- Publication type:
- Article
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. E530, doi. 10.1002/humu.20975
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- Publication type:
- Article
Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells.
- Published in:
- Frontiers in Cellular Neuroscience, 2019, p. 1, doi. 10.3389/fncel.2019.00356
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- Publication type:
- Article