Assessing non-Mendelian Inheritance in Inherited Axonopathies

PURPOSE: Inherited axonopathies (IA) are rare, clinically and genetically heterogeneous diseases that lead to length-dependent degeneration of the long axons in central (hereditary spastic paraplegia (HSP)) and peripheral (Charcot-Marie-Tooth type 2 (CMT2)) nervous systems. Mendelian high-penetrance...

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Gepubliceerd in:Genet Med
Hoofdauteurs: Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E., Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2020
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7710562/
https://ncbi.nlm.nih.gov/pubmed/32741968
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0924-0
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