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Articles published in Brain

Retrieve available abstracts of 18 articles:
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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.
    PubMed     Abstract available

    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.
    PubMed     Abstract available

  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.
    PubMed     Abstract available

    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.

  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.
    PubMed     Abstract available

    September 2020
  6. HARDY CJD, Yong KXX, Goll JC, Crutch SJ, et al
    Impairments of auditory scene analysis in posterior cortical atrophy.
    Brain. 2020 Sep 1. pii: 5900355. doi: 10.1093.
    PubMed     Abstract available

  7. 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.
    PubMed     Abstract available

    July 2020
  8. MCNEILL A, Iovino E, Mansard L, Vache C, et al
    SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.
    Brain. 2020 Jul 13. pii: 5870962. doi: 10.1093.
    PubMed     Abstract available

    June 2020
  9. HERMANN B, Salah AB, Perlbarg V, Valente M, et al
    Habituation of auditory startle reflex is a new sign of minimally conscious state.
    Brain. 2020 Jun 25. pii: 5862031. doi: 10.1093.
    PubMed     Abstract available

    February 2020
    CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.
    Brain. 2020;143:386-390.

  11. CORTESE A, Tozza S, Yau WY, Rossi S, et al
    Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion.
    Brain. 2020;143:480-490.
    PubMed     Abstract available

    January 2020
  12. FAGERBERG CR, Taylor A, Distelmaier F, Schroder HD, et al
    Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration.
    Brain. 2020;143:94-111.
    PubMed     Abstract available

  13. VAN BERGEN NJ, Guo Y, Al-Deri N, Lipatova Z, et al
    Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
    Brain. 2020;143:112-130.
    PubMed     Abstract available

    February 2019
  14. BEDNARCZUK NF, Bonsu A, Ortega MC, Fluri AS, et al
    Abnormal visuo-vestibular interactions in vestibular migraine: a cross sectional study.
    Brain. 2019 Feb 12. pii: 5316319. doi: 10.1093.
    PubMed     Abstract available

    December 2017
  15. YUSUF PA, Hubka P, Tillein J, Kral A, et al
    Induced cortical responses require developmental sensory experience.
    Brain. 2017;140:3153-3165.
    PubMed     Abstract available

    November 2017
  16. KULLAR PJ, Gomez-Duran A, Gammage PA, Garone C, et al
    Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
    Brain. 2017 Nov 22. pii: 4652878. doi: 10.1093.
    PubMed     Abstract available

  17. MANOLE A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, et al
    Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
    Brain. 2017;140:2820-2837.
    PubMed     Abstract available

    September 2017
  18. ALDERSON-DAY B, Lima CF, Evans S, Krishnan S, et al
    Distinct processing of ambiguous speech in people with non-clinical auditory verbal hallucinations.
    Brain. 2017;140:2475-2489.
    PubMed     Abstract available

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