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Articles published in Brain

Retrieve available abstracts of 18 articles:
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Single Articles


    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.
    PubMed    


  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
  10. PAISAN-RUIZ C, Jen JC
    CANVAS with cerebellar/sensory/vestibular dysfunction from RFC1 intronic pentanucleotide expansion.
    Brain. 2020;143:386-390.
    PubMed    


  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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