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Articles published in
Brain
    May 2021
  1. SFERRA A, Fortugno P, Motta M, Aiello C, et al
    Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness.
    Brain. 2021 May 8. pii: 6272579. doi: 10.1093.
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    December 2020
  2. JOHNSON JCS, Marshall CR, Weil RS, Bamiou DE, et al
    Hearing and dementia: from ears to brain.
    Brain. 2020 Dec 22. pii: 6044086. doi: 10.1093.
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  3. CIF L, Demailly D, Lin JP, Barwick KE, et al
    KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
    Brain. 2020;143:3242-3261.
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    October 2020
  4. KUMAR KR, Cortese A, Tomlinson SE, Efthymiou S, et al
    RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjogren syndrome.
    Brain. 2020;143:e82.
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  5. SCRIBA CK, Beecroft SJ, Clayton JS, Cortese A, et al
    A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
    Brain. 2020;143:2904-2910.
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    September 2020
  6. BEECROFT SJ, Cortese A, Sullivan R, Yau WY, et al
    A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele.
    Brain. 2020;143:2673-2680.
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