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SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.
Hum Mutat. 2007 Oct;28(10):1005-13. doi: 10.1002/humu.20554.
Hum Mutat. 2007.
PMID: 17546647
Phenotypic spectrum of hereditary neuralgic amyotrophy caused by the SEPT9 R88W mutation.
Ueda M, Kawamura N, Tateishi T, Sakae N, Motomura K, Ohyagi Y, Kira JI.
Ueda M, et al.
J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):94-6. doi: 10.1136/jnnp.2008.168260.
J Neurol Neurosurg Psychiatry. 2010.
PMID: 20019224
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Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stögbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Van Broeckhoven C, De Jonghe P, Timmerman V, Ringelstein EB, Chance PF.
Kuhlenbäumer G, et al.
Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25.
Nat Genet. 2005.
PMID: 16186812
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Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation--a family study.
Laccone F, Hannibal MC, Neesen J, Grisold W, Chance PF, Rehder H.
Laccone F, et al.
Clin Genet. 2008 Sep;74(3):279-83. doi: 10.1111/j.1399-0004.2008.01022.x. Epub 2008 May 19.
Clin Genet. 2008.
PMID: 18492087
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SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy.
Hannibal MC, Ruzzo EK, Miller LR, Betz B, Buchan JG, Knutzen DM, Barnett K, Landsverk ML, Brice A, LeGuern E, Bedford HM, Worrall BB, Lovitt S, Appel SH, Andermann E, Bird TD, Chance PF.
Hannibal MC, et al.
Neurology. 2009 May 19;72(20):1755-9. doi: 10.1212/WNL.0b013e3181a609e3.
Neurology. 2009.
PMID: 19451530
Free PMC article.
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SEPT9 mutations and a conserved 17q25 sequence in sporadic and hereditary brachial plexus neuropathy.
Klein CJ, Wu Y, Cunningham JM, Windebank AJ, Dyck PJ, Friedenberg SM, Klein DM, Dyck PJ.
Klein CJ, et al.
Arch Neurol. 2009 Feb;66(2):238-43. doi: 10.1001/archneurol.2008.585.
Arch Neurol. 2009.
PMID: 19204161
Free PMC article.
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Neonatal vocal cord paralysis-an early presentation of hereditary neuralgic amyotrophy due to a mutation in the SEPT9 gene.
Leshinsky-Silver E, Ginzberg M, Dabby R, Sadeh M, Lev D, Lerman-Sagie T.
Leshinsky-Silver E, et al.
Eur J Paediatr Neurol. 2013 Jan;17(1):64-7. doi: 10.1016/j.ejpn.2012.08.006. Epub 2012 Sep 13.
Eur J Paediatr Neurol. 2013.
PMID: 22981636
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