Resources & publications
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2019Journal (source)Hum. Mutat.Expanding the genetic and phenotypic relevance of KCNB1 variants in developme...
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2017Journal (source)Autophagy
The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity ...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2022Journal (source)Mol Ther
Novel genome-editing-based approaches to treat motor neuron diseases: Promise...
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2024Journal (source)Autophagy
Poly-GP accumulation due to C9orf72 loss of function induces motor neuron apo...
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2025Journal (source)Brain
Chloride deregulation and GABA depolarization in MTOR-related malformations o...
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2023Journal (source)Mol Cell
Poly(A)-binding protein is an ataxin-2 chaperone that regulates biomolecular ...