Citations for
1HNA, SEPTIN9
Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.
Neubauer K, Boeckelmann D, Koehler U, Kracht J, Kirschner J, Pendziwiat M, Zieger B.
Cytoskeleton (Hoboken) ytoskeleton (Hoboken). 2018 Jul 18. doi: 10.1002/cm.21479. [Epub ahead of print] 2018
2HNA, SEPTIN9
Novel septin 9 repeat motifs altered in neuralgic amyotrophy bind and bundle microtubules.
Bai X, Bowen JR, Knox TK, Zhou K, Pendziwiat M, Kuhlenbäumer G, Sindelar CV, Spiliotis ET.
J Cell Biol 203(6):895-905. 2013
3HNA, SEPTIN9
Non-recurrent SEPT9 duplications cause hereditary neuralgic amyotrophy.
Collie AM, Landsverk ML, Ruzzo E, Mefford HC, Buysse K, Adkins JR, Knutzen DM, Barnett K, Brown RH Jr, Parry GJ, Yum SW, Simpson DA, Olney RK, Chinnery PF, Eichler EE, Chance PF, Hannibal MC.
J Med Genet 47(9):601-7. Epub 2009 Nov 25.PMID: 19939853 2010
4HNA, SEPTIN9
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.
Neurology 72(20):1755-9. 2009
5HNA, SEPTIN9
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC.
Hum Mol Genet 18(7):1200-8. Epub 2009 Jan 12. 2009
6HNA, SEPTIN8, SEPTIN9
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.
Clin Genet 74(3):279-83. Epub 2008 May 19. 2008
7HNA, SEPTIN9
Mutations in SEPT9 cause hereditary neuralgic amyotrophy.
Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, Vriendt ED, Young P, Stogbauer 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, Broeckhoven CV, Jonghe PD, Timmerman V, Ringelstein EB, Chance PF.
Nat Genet 37(10):1044-1046. Epub 2005 Sep 25. 2005
8HNA
Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.
Hunermund G, Schirmacher A, Ringelstein B, Young P, Watts GD, Meuleman J, Nelis E, Chance PF, Timmerman V, Stogbauer F, Kuhlenbaumer G.
Muscle Nerve 29(4):601-4. 2004
9HNA
Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families.
Watts GJ, O'Briant KC, Chance PF.
Hum Genet 110(2):166-72. 2002
10HNA
Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.
Meulemann J, Kuhlenbaumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stogbauer F, Van Broeckhoven C, Timmerman V.
Eur J Hum Genet 7(8):920-7 1999
11ATF4B, ATF4C, D17S1534, D17S802, D17S929, D17S939, EBJPAB, GRB2, HNA, ITGB4, LGALS3BP, NPTX1, SRSF2, ST6GALNAC2
A sequence-ready BAC/PAC contig and partial transcript map of approximately 1.5 Mb in human chromosome 17q25 comprising multiple disease genes.
Kuhlenbaumer G, Schirmacher A, Meuleman J, Tissir F, Del-Favero J, Stogbauer F, Young P, Ringelstein B, Van Broeckhoven C, Timmerman V.
Genomics 62(2):242-50. 1999
12HNA, MYBET, SRSF2
Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA).
Kuhlenbaeumer G, et al.
Ann Hum Genet 62 : 397-400. 1998
13HNA
Refinement of the hereditary neuralgic amyotrophy (HNA) locus to chromosome 17q24-q25.
Stogbauer F, Young P, Timmerman V, Spoelders P, Ringelstein EB, Van Broeckhoven C, Kurlemann G.
Hum Genet 99(5):685-7. 1997
14HNA
Further evidence supporting linkage of hereditary neuralgic amyotrophy to chromosome 17q.
Wehnert M, Timmerman V, Spoelders P, Meuleman J, Nelis E, Van Broeckhoven C.
Neurology 48(6):1719-21. 1997
15HNA
Hereditary neuralgic amyotrophy : evidence for genetic homogeneity and mapping to chromosome 17q25.
Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, Brown MJ, Rebbeck TR, Bird TD, Chance PF.
Hum Genet 101(3):277-83. 1997
16HNA
Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.
Pellegrino JE, et al.
Neurology 46 : 1128-1132. 1996