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Comment
. 2024 Oct;32(10):1200-1201.
doi: 10.1038/s41431-023-01452-3. Epub 2023 Sep 5.

Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa

Aimé Lumaka  1   2
Affiliations
Comment

Valuable insights into hereditary spinocerebellar degeneration from clusters of homozygosity in Africa

Aimé Lumaka. Eur J Hum Genet. 2024 Oct.
No abstract available

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Conflict of interest statement

The author declares no competing interests.

Figures

Fig. 1
Fig. 1. PubMed records for HSCD entities in the World and in Africa (accession date August 1, 2023).
Bars indicate the number of all results in the Pubmed search. The number of publications including African patients or involving African affiliations is presented in red. The full bar represents the overall results for the year indicated on the X axis. Query keywords were: [hereditary spastic paraplegia] or [hereditary spastic paraplegia] AND [Africa] for graph A, [spinocerebellar ataxia] or [spinocerebellar ataxia] AND [Africa] for graph B, [cerebellar ataxia] or [cerebellar ataxia] AND [Africa] for the graph C.
See this image and copyright information in PMC

Comment on

  • Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.
    Yahia A, Hamed AAA, Mohamed IN, Elseed MA, Salih MA, El-Sadig SM, Siddig HE, Nasreldien AEM, Abdullah MA, Elzubair M, Omer FY, Bakhiet AM, Abubaker R, Abozar F, Adil R, Emad S, Musallam MA, Eltazi IZM, Omer Z, Malik H, Mohamed MOE, Elhassan AA, Mohamed EOE, Ahmed AKMA, Ahmed EAA, Eltaraifee E, Hussein BK, Abd Allah ASI, Salah L, Nimir M, Tag Elseed OM, Elhassan TEA, Elbashier A, Alfadul ESA, Fadul M, Ali KF, Taha SOMA, Bushara EE, Amin M, Koko M, Ibrahim ME, Ahmed AE, Elsayed LEO, Stevanin G. Yahia A, et al. Eur J Hum Genet. 2024 Oct;32(10):1214-1226. doi: 10.1038/s41431-023-01344-6. Epub 2023 Apr 3. Eur J Hum Genet. 2024. PMID: 37012327 Free PMC article.

References

    1. Yahia A, Hamed AAA, Mohamed IN, Elseed MA, Salih MA, El-Sadig SM, et al. Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations. Eur J Hum Genet. 2023. 10.1038/s41431-023-01344-6. Online ahead of print. - PMC - PubMed
    1. Jiao B, Zhou Z, Hu Z, Du J, Liao X, Luo Y, et al. Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families. Parkinsonism Relat Disord. 2020;80:65–72. - PubMed
    1. Ngo KJ, Rexach JE, Lee H, Petty LE, Perlman S, Valera JM, et al. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020;41:487–501. - PMC - PubMed

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