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Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12.
Hum Mutat. 2013.
PMID: 23857908
Free PMC article.
Neurogenic and myogenic contributions to hereditary motor neuron disease.
Bricceno KV, Fischbeck KH, Burnett BG.
Bricceno KV, et al.
Neurodegener Dis. 2012;9(4):199-209. doi: 10.1159/000335311. Epub 2012 Feb 9.
Neurodegener Dis. 2012.
PMID: 22327341
Free PMC article.
Review.
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Histone deacetylase inhibition suppresses myogenin-dependent atrogene activation in spinal muscular atrophy mice.
Bricceno KV, Sampognaro PJ, Van Meerbeke JP, Sumner CJ, Fischbeck KH, Burnett BG.
Bricceno KV, et al.
Hum Mol Genet. 2012 Oct 15;21(20):4448-59. doi: 10.1093/hmg/dds286. Epub 2012 Jul 13.
Hum Mol Genet. 2012.
PMID: 22798624
Free PMC article.
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Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics.
Bricceno KV, Martinez T, Leikina E, Duguez S, Partridge TA, Chernomordik LV, Fischbeck KH, Sumner CJ, Burnett BG.
Bricceno KV, et al.
Hum Mol Genet. 2014 Sep 15;23(18):4745-57. doi: 10.1093/hmg/ddu189. Epub 2014 Apr 23.
Hum Mol Genet. 2014.
PMID: 24760765
Free PMC article.
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Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa.
Sangaré M, Hendrickson B, Sango HA, Chen K, Nofziger J, Amara A, Dutra A, Schindler AB, Guindo A, Traoré M, Harmison G, Pak E, Yaro FN, Bricceno K, Grunseich C, Chen G, Boehm M, Zukosky K, Bocoum N, Meilleur KG, Daou F, Bagayogo K, Coulibaly YI, Diakité M, Fay MP, Lee HS, Saad A, Gribaa M, Singleton AB, Maiga Y, Auh S, Landouré G, Fairhurst RM, Burnett BG, Scholl T, Fischbeck KH.
Sangaré M, et al.
Ann Neurol. 2014 Apr;75(4):525-32. doi: 10.1002/ana.24114. Epub 2014 Apr 2.
Ann Neurol. 2014.
PMID: 24515897
Free PMC article.
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Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?
Sangare M, Dicko I, Guinto CO, Sissoko A, Dembele K, Coulibaly Y, Coulibaly SY, Landoure G, Diallo A, Dolo M, Dolo H, Maiga B, Traore M, Karembe M, Traore K, Toure A, Sylla M, Togora A, Coulibaly S, Traore SF, Hendrickson B, Bricceno K, Schindler AB, Kokkinis A, Meilleur KG, Sangho HA, Diakite B, Kassogue Y, Coulibaly YI, Burnett B, Maiga Y, Doumbia S, Fischbeck KH.
Sangare M, et al.
eNeurologicalSci. 2016 Jan 4;3:17-20. doi: 10.1016/j.ensci.2015.12.001. eCollection 2016 Jun.
eNeurologicalSci. 2016.
PMID: 29430530
Free PMC article.
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