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Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 79, doi. 10.1002/mdc3.12114
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- Article
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks.
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- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0527-7
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- Article
Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts.
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- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00078
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- Article
Skin fibroblasts from pantothenate kinase-associated neurodegeneration patients show altered cellular oxidative status and have defective iron-handling properties.
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- Human Molecular Genetics, 2012, v. 21, n. 18, p. 4049, doi. 10.1093/hmg/dds229
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- Article
Mutation screening of the DYT6/ THAP1 gene in Italy.
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- Movement Disorders, 2009, v. 24, n. 16, p. 2424, doi. 10.1002/mds.22861
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- Article
A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.
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- Movement Disorders, 2008, v. 23, n. 14, p. 2041, doi. 10.1002/mds.22256
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- Article
Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study.
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- Movement Disorders, 2008, v. 23, n. 6, p. 881, doi. 10.1002/mds.21960
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- Article
Myoclonus-dystonia syndrome: Clinical presentation, disease course, and genetic features in 11 families.
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- Movement Disorders, 2008, v. 23, n. 1, p. 28, doi. 10.1002/mds.21715
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- Article