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Brief Reports

Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations

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Pages 576-578 | Received 05 Jul 2020, Accepted 17 Aug 2020, Published online: 01 Sep 2020

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Emilien Bernard, Antoine Pegat, Anne-Evelyne Vallet, Pascal Leblanc, Serge Lumbroso, Kevin Mouzat & Philippe Latour. (2022) Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:5-6, pages 473-475.
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Articles from other publishers (2)

Tanya Lehky & Christopher Grunseich. (2021) Juvenile Amyotrophic Lateral Sclerosis: A Review. Genes 12:12, pages 1935.
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Natalie Young, Maria Asif, Matthew Jackson, Daniel Martín Fernández-Mayoralas, Mar Jimenez de la Peña, Beatriz Calleja-Pérez, Sara Álvarez, Eve Hunter-Featherstone, Angelika A. Noegel, Wolfgang Höhne, Peter Nürnberg, Boguslaw Obara, Muhammad Sajid Hussain, Iakowos Karakesisoglou & Alberto Fernández-Jaén. (2021) Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism. Genes 12:9, pages 1294.
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