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001     154375
005     20240110092549.0
024 7 _ |a 10.1038/s41436-020-0924-0
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024 7 _ |a pmid:32741968
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024 7 _ |a pmc:PMC7710562
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024 7 _ |a 1098-3600
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024 7 _ |a 1530-0366
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024 7 _ |a altmetric:93655017
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037 _ _ |a DZNE-2021-00228
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Bis-Brewer, Dana M
|0 P:(DE-HGF)0
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245 _ _ |a Assessing non-Mendelian inheritance in inherited axonopathies.
260 _ _ |a London, UK
|c 2020
|b Springer Nature
336 7 _ |a article
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336 7 _ |a Output Types/Journal article
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336 7 _ |a Journal Article
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336 7 _ |a ARTICLE
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336 7 _ |a Journal Article
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500 _ _ |a ISSN 1530-0366 not unique: **3 hits**.
520 _ _ |a 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% of IA cases do not receive a genetic diagnosis. A more comprehensive spectrum of causative genes and alleles is warranted, including causative and risk alleles, as well as oligogenic multilocus inheritance.Through international collaboration, IA exome studies are beginning to be sufficiently powered to perform a pilot rare variant burden analysis. After extensive quality control, our cohort contained 343 CMT cases, 515 HSP cases, and 935 non-neurological controls. We assessed the cumulative mutational burden across disease genes, explored the evidence for multilocus inheritance, and performed an exome-wide rare variant burden analysis.We replicated the previously described mutational burden in a much larger cohort of CMT cases, and observed the same effect in HSP cases. We identified a preliminary risk allele for CMT in the EXOC4 gene (p value= 6.9 × 10-6, odds ratio [OR] = 2.1) and explored the possibility of multilocus inheritance in IA.Our results support the continuing emergence of complex inheritance mechanisms in historically Mendelian disorders.
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588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 7 |a Charcot–Marie–Tooth disease
|2 Other
650 _ 7 |a hereditary spastic paraplegia
|2 Other
650 _ 7 |a inherited axonopathy
|2 Other
650 _ 7 |a mutational burden
|2 Other
650 _ 7 |a oligogenic inheritance
|2 Other
650 _ 2 |a Alleles
|2 MeSH
650 _ 2 |a Charcot-Marie-Tooth Disease: diagnosis
|2 MeSH
650 _ 2 |a Charcot-Marie-Tooth Disease: genetics
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Mutation
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: diagnosis
|2 MeSH
650 _ 2 |a Spastic Paraplegia, Hereditary: genetics
|2 MeSH
650 _ 2 |a Exome Sequencing
|2 MeSH
700 1 _ |a Gan-Or, Ziv
|b 1
700 1 _ |a Sleiman, Patrick
|b 2
700 1 _ |a Consortium, Inherited Neuropathy
|b 3
|e Collaboration Author
700 1 _ |a Hakonarson, Hakon
|b 4
700 1 _ |a Fazal, Sarah
|b 5
700 1 _ |a Courel, Steve
|b 6
700 1 _ |a Cintra, Vivian
|b 7
700 1 _ |a Tao, Feifei
|b 8
700 1 _ |a Estiar, Mehrdad A
|b 9
700 1 _ |a Tarnopolsky, Mark
|b 10
700 1 _ |a Boycott, Kym M
|b 11
700 1 _ |a Yoon, Grace
|b 12
700 1 _ |a Suchowersky, Oksana
|b 13
700 1 _ |a Dupré, Nicolas
|b 14
700 1 _ |a Cheng, Andrew
|b 15
700 1 _ |a Lloyd, Thomas E
|b 16
700 1 _ |a Rouleau, Guy
|b 17
700 1 _ |a Schüle, Rebecca
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700 1 _ |a Züchner, Stephan
|0 P:(DE-HGF)0
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|e Corresponding author
700 1 _ |a Rodriguez, Aixa
|b 20
700 1 _ |a Bacha, Alexa
|b 21
700 1 _ |a Kosikowski, Ashley
|b 22
700 1 _ |a Wood, Beth
|b 23
700 1 _ |a McCray, Brett
|b 24
700 1 _ |a Blume, Brianna
|b 25
700 1 _ |a Siskind, Carly
|b 26
700 1 _ |a Sumner, Charlotte
|b 27
700 1 _ |a Calabrese, Daniela
|b 28
700 1 _ |a Walk, David
|b 29
700 1 _ |a Vujovic, Dragan
|b 30
700 1 _ |a Park, Eun
|b 31
700 1 _ |a Muntoni, Francesco
|b 32
700 1 _ |a Donlevy, Gabrielle
|b 33
700 1 _ |a Acsadi, Gyula
|b 34
700 1 _ |a Day, John
|b 35
700 1 _ |a Burns, Joshua
|b 36
700 1 _ |a Li, Jun
|b 37
700 1 _ |a Krajewski, Karen
|b 38
700 1 _ |a Eichinger, Kate
|b 39
700 1 _ |a Cornett, Kayla
|b 40
700 1 _ |a Mullen, Krista
|b 41
700 1 _ |a Perez, Laura
|b 42
700 1 _ |a Gutmann, Laurie
|b 43
700 1 _ |a Barrett, Maria
|b 44
700 1 _ |a Saporta, Mario
|b 45
700 1 _ |a Skorupinska, Mariola
|b 46
700 1 _ |a Grant, Natalie
|b 47
700 1 _ |a Bray, Paula
|b 48
700 1 _ |a Seyedsadjadi, Reza
|b 49
700 1 _ |a Zuccarino, Riccardo
|b 50
700 1 _ |a Finkel, Richard
|b 51
700 1 _ |a Lewis, Richard
|b 52
700 1 _ |a Yum, Sabrina
|b 53
700 1 _ |a Hilbert, Sarah
|b 54
700 1 _ |a Thomas, Simone
|b 55
700 1 _ |a Behrens-Spraggins, Steffen
|b 56
700 1 _ |a Jones, Tara
|b 57
700 1 _ |a Grider, Tiffany
|b 58
700 1 _ |a Estilow, Tim
|b 59
700 1 _ |a Fridman, Vera
|b 60
700 1 _ |a Reilly, Mary M
|b 61
700 1 _ |a Shy, Michael E
|b 62
700 1 _ |a Bacon, Chelsea J
|b 63
700 1 _ |a Feely, Shawna M E
|b 64
700 1 _ |a Rossor, Alexander M
|b 65
700 1 _ |a Herrmann, David N
|b 66
773 _ _ |a 10.1038/s41436-020-0924-0
|g Vol. 22, no. 12, p. 2114 - 2119
|0 PERI:(DE-600)2063504-7
|n 12
|p 2114 - 2119
|t Genetics in medicine
|v 22
|y 2020
|x 1530-0366
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