Expanded Phenotype of the <i>Cln6^nclf</i> Mouse Model

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurogenetic disorders caused by mutations in 14 different genes. CLN6 disease manifests as variant late-infantile NCL (vLINCL) or as an adult variant. In childhood, symptoms include speech delay, vision loss, cognitive and mot...

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Principais autores:	Victoria Chaoul, Sara Saab, Omar Shmoury, Ramy Alam, Lynn Al Aridi, Nadine J. Makhoul, Jihane Soueid, Rose-Mary Boustany
格式:	Artigo
語言:	Inglês
出版:	MDPI AG 2025-04-01
叢編:	Cells
主題:	CLN6 disease <i>Cln6<sup>nclf</sup></i> mice apoptosis neurodegeneration motor deficits vision loss
在線閱讀:	https://www.mdpi.com/2073-4409/14/9/661
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