Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis-Reference-Cited by-同舟云学术

Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis

Published:2024-04-16 Issue:7 Volume:271 Page:4258-4266
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Barel Dalit,Marom Daphna,Ponger Penina,Kurolap Alina,Bar-Shira Anat,Kaplan-Ber Idit,Mory Adi,Abramovich Beatrice,Yaron Yuval,Drory Vivian,Baris Feldman Hagit^ORCID

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00415-024-12368-3.pdf

Reference24 articles.

1. Hardiman O, Al-Chalabi A, Chio A et al (2017) Amyotrophic lateral sclerosis. Nat Rev Dis Prim 3:17071

2. Akçimen F, Lopez ER, Landers JE et al (2023) Amyotrophic lateral sclerosis: translating genetic discoveries into therapies. Nat Rev Genet 24:642–658. https://doi.org/10.1038/s41576-023-00592-y

3. Su XW, Broach JR, Connor JR et al (2014) Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research. Muscle Nerve 49:786–803. https://doi.org/10.1002/mus.24198

4. Majounie E, Renton AE, Mok K et al (2012) Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study. Lancet Neurol 11:323–330. https://doi.org/10.1016/S1474-4422(12)70043-1

5. Dejesus-hernandez M, Mackenzie IR, Boeve BF et al (2012) Expanded GGGGCC hexanucleotide repeat in non-coding region of C9ORF72 causes chromosome 9p-linked frontotemporal dementia and amyotrophic lateral sclerosis Mariely. Neuron 72:245–256. https://doi.org/10.1016/j.neuron.2011.09.011.Expanded