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

Lumaka Zola, Aimé

doi:10.1038/s41431-023-01452-3

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Article (Scientific journals)

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

Lumaka Zola, Aimé

2023 • In European Journal of Human Genetics

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/307836

DOI
10.1038/s41431-023-01452-3

PubMed
37670080

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Lumaka EJHG 2023 Comment.pdf

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Keywords :

Genetics (clinical); Genetics

Disciplines :

Laboratory medicine & medical technology

Author, co-author :

Lumaka Zola, Aimé ; Centre Hospitalier Universitaire de Liège - CHU > > Service de génétique ; Center for Human Genetics, University of Kinshasa, Kinshasa, Democratic Republic of Congo. aime.lumaka@gmail.com

Language :

English

Title :

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

Alternative titles :

[en] Erratum to: Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations (European Journal of Human Genetics, (2023), 10.1038/s41431-023-01344-6)

Publication date :

05 September 2023

Journal title :

European Journal of Human Genetics

ISSN :

1018-4813

eISSN :

1476-5438

Publisher :

Springer Science and Business Media LLC, England

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://www.nature.com/articles/s41431-023-01452-3.pdf

Available on ORBi :

since 14 October 2023

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Bibliography

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. https://doi.org/10.1038/s41431-023-01344-6. Online ahead of print.
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. DOI: 10.1016/j.parkreldis.2020.09.013
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. DOI: 10.1002/humu.23946