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DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)

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References

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Funding

This work was supported by the E-Rare project GENOMIT, Telethon-Italy (GGP15041), the Pierfranco and Luisa Mariani Foundation.

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Authors and Affiliations

  1. Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Alessia Catania, Lorenzo Peverelli, Daniele Ghezzi & Costanza Lamperti

  2. Neuromuscular and Rare Disease Unit, Department of Neuroscience, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

    Lorenzo Peverelli

  3. Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy

    Silvia Tabano & Daniele Ghezzi

Authors
  1. Alessia Catania
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  2. Lorenzo Peverelli
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  3. Silvia Tabano
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  4. Daniele Ghezzi
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  5. Costanza Lamperti
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Correspondence to Alessia Catania.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Catania, A., Peverelli, L., Tabano, S. et al. DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). Neurol Sci 40, 1963–1966 (2019). https://doi.org/10.1007/s10072-019-03859-7

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  • DOI: https://doi.org/10.1007/s10072-019-03859-7

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