Article
End-Truncated LAMB1 Causes a Hippocampal Memory Defect and a Leukoencephalopathy.
Annals of neurology - 1 Dec 2021
Aloui Chaker, Hervé Dominique, Marenne Gaelle, Savenier Florian, Le Guennec Kilan, Bergametti Francoise, Verdura Edgard, Ludwig Thomas E, Lebenberg Jessica, Jabeur Waliyde, Morel Hélène, Coste Thibault, Demarquay Geneviève, Bachoumas Panagiotis, Cogez Julien, Mathey Guillaume, Bernard Emilien, Chabriat Hugues, Génin Emmanuelle, Tournier-Lasserve Elisabeth
Abstract excerpt
OBJECTIVE: The majority of patients with a familial cerebral small vessel disease (CSVD) referred for molecular screening do not show pathogenic variants in known genes. In this study, we aimed to identify novel CSVD causal genes. METHODS: We performed a gene-based collapsing test of rare protein-truncating variants identified in exome data of 258 unrelated CSVD patients of an ethnically matched control cohort...
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