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    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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