Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18-Reference-Cited by-同舟云学术

Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18

Published:2023-12-30 Issue: Volume: Page:
ISSN:1590-1874
Container-title:Neurological Sciences
language:en
Short-container-title:Neurol Sci

Author:

de Souza Guilherme Carvalho,Malta Maria Carolina,Santos Mirele Raíssa Silva,Fontes Marshall Ítalo Barros,de Sousa Anjos Juliana Lopes,Ribeiro Diego Patrício,Kok Fernando,Figueiredo Thalita^ORCID

Funder

Research Program for the Unified Health System (PPSUS): shared management in health

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10072-023-07271-0.pdf

Reference20 articles.

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3. Cardoso-dos-Santos AC, Ramallo V, Zagonel-Oliveira M, Veronez MR, Navarro P, Monlleó IL, Valiati VH, Dipierri JE, Schuler-Faccini L (2021) An invincible memory: what surname analysis tells us about history, health and population medical genetics in the Brazilian Northeast. J Biosoc Sci 53(2):183–198. https://doi.org/10.1017/S0021932020000127

4. Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AMM, Zatz M (2005) Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol 57(5):730–737. https://doi.org/10.1002/ana.20478

5. Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CRR, Martins-Pinheiro M, Menck CFM, Zaki MS, Kok F, Zatz M, Santos S (2015) Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome. Hum Mol Genet 24(24):6877–6885. https://doi.org/10.1093/hmg/ddv388