%0 Journal Article
%A Bis-Brewer, Dana M
%A Gan-Or, Ziv
%A Sleiman, Patrick
%A Hakonarson, Hakon
%A Fazal, Sarah
%A Courel, Steve
%A Cintra, Vivian
%A Tao, Feifei
%A Estiar, Mehrdad A
%A Tarnopolsky, Mark
%A Boycott, Kym M
%A Yoon, Grace
%A Suchowersky, Oksana
%A Dupré, Nicolas
%A Cheng, Andrew
%A Lloyd, Thomas E
%A Rouleau, Guy
%A Schüle, Rebecca
%A Züchner, Stephan
%A Rodriguez, Aixa
%A Bacha, Alexa
%A Kosikowski, Ashley
%A Wood, Beth
%A McCray, Brett
%A Blume, Brianna
%A Siskind, Carly
%A Sumner, Charlotte
%A Calabrese, Daniela
%A Walk, David
%A Vujovic, Dragan
%A Park, Eun
%A Muntoni, Francesco
%A Donlevy, Gabrielle
%A Acsadi, Gyula
%A Day, John
%A Burns, Joshua
%A Li, Jun
%A Krajewski, Karen
%A Eichinger, Kate
%A Cornett, Kayla
%A Mullen, Krista
%A Perez, Laura
%A Gutmann, Laurie
%A Barrett, Maria
%A Saporta, Mario
%A Skorupinska, Mariola
%A Grant, Natalie
%A Bray, Paula
%A Seyedsadjadi, Reza
%A Zuccarino, Riccardo
%A Finkel, Richard
%A Lewis, Richard
%A Yum, Sabrina
%A Hilbert, Sarah
%A Thomas, Simone
%A Behrens-Spraggins, Steffen
%A Jones, Tara
%A Grider, Tiffany
%A Estilow, Tim
%A Fridman, Vera
%A Reilly, Mary M
%A Shy, Michael E
%A Bacon, Chelsea J
%A Feely, Shawna M E
%A Rossor, Alexander M
%A Herrmann, David N
%T Assessing non-Mendelian inheritance in inherited axonopathies.
%J Genetics in medicine
%V 22
%N 12
%@ 1530-0366
%C London, UK
%I Springer Nature
%M DZNE-2021-00228
%P 2114 - 2119
%D 2020
%Z ISSN 1530-0366 not unique: **3 hits**.
%X 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 alleles in over 100 different genes have been shown to cause IA; however, about 50
%K Alleles
%K Charcot-Marie-Tooth Disease: diagnosis
%K Charcot-Marie-Tooth Disease: genetics
%K Humans
%K Mutation
%K Spastic Paraplegia, Hereditary: diagnosis
%K Spastic Paraplegia, Hereditary: genetics
%K Exome Sequencing
%K Charcot–Marie–Tooth disease (Other)
%K hereditary spastic paraplegia (Other)
%K inherited axonopathy (Other)
%K mutational burden (Other)
%K oligogenic inheritance (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:32741968
%2 pmc:PMC7710562
%R 10.1038/s41436-020-0924-0
%U https://pub.dzne.de/record/154375