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POLR3A variants in hereditary spastic paraparesis and ataxia: clinical,genetic, and neuroradiological findings in a cohort of Italian patients |
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| Authors: | Di Donato Ilaria Gallo Antonio Ricca Ivana Fini Nicola Silvestri Gabriella Gurrieri Fiorella Cirillo Mario Cerase Alfonso Natale Gemma Matrone Federica Riso Vittorio Melone Mariarosa Anna Beatrice Tessa Alessandra De Michele Giovanna Federico Antonio Filla Alessandro Dotti Maria Teresa Santorelli Filippo Maria |
| Abstract: | Neurological Sciences - Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes to... |
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