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Neurology Genetics
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A peer-reviewed clinical and translational neurology open access journal
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December 2019; 5 (6)

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Clinical/Scientific Notes

  • Open Access
    Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I
    Federica Boso, Andrea Armirotti, Federica Taioli, Moreno Ferrarini, Lucilla Nobbio, Tiziana Cavallaro, Gian Maria Fabrizi
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Neurology Genetics: 5 (6)
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  • Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
  • Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
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Neurology Genetics: 5 (6)

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Neurology: Genetics | Online ISSN: 2376-7839

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