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Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.627531
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- Article
Altered brain white matter structural motor network in spinocerebellar ataxia type 3.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 2, p. 225, doi. 10.1002/acn3.51713
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- Article
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.
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- Annals of Neurology, 2022, v. 92, n. 3, p. 512, doi. 10.1002/ana.26436
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- Article
Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
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- Journal of Neurology, 2024, v. 271, n. 2, p. 918, doi. 10.1007/s00415-023-12042-0
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- Article
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
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- Movement Disorders, 2024, v. 39, n. 1, p. 152, doi. 10.1002/mds.29664
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- Article
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.
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- Movement Disorders, 2023, v. 38, n. 9, p. 1750, doi. 10.1002/mds.29522
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- Article
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
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- Acta Neuropathologica, 2022, v. 143, n. 6, p. 733, doi. 10.1007/s00401-022-02422-7
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- Article