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Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings with a midlife-onset, slowly progressive type of cerebellar ataxia and spastic paraplegia,...
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| Publicat a: | Sci Rep |
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| Autors principals: | , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2014
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5384088/ https://ncbi.nlm.nih.gov/pubmed/25417924 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep07132 |
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