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Items: 1 to 20 of 97

1.

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. 2010 Sep;47(9):601-7. doi: 10.1136/jmg.2009.072348. Epub 2009 Nov 25.

PMID:
19939853
2.

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. 2009 Apr 1;18(7):1200-8. doi: 10.1093/hmg/ddp014. Epub 2009 Jan 12.

3.

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. 2009 May 19;72(20):1755-9. doi: 10.1212/WNL.0b013e3181a609e3.

4.

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.

J Neurol Neurosurg Psychiatry. 2010 Jan;81(1):94-6. doi: 10.1136/jnnp.2008.168260.

PMID:
20019224
5.

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.

Nat Genet. 2005 Oct;37(10):1044-6. Epub 2005 Sep 25.

PMID:
16186812
6.

Evidence of a founder effect and refinement of the hereditary neuralgic amyotrophy (HNA) locus on 17q25 in American families.

Watts GD, O'Briant KC, Chance PF.

Hum Genet. 2002 Feb;110(2):166-72. Epub 2001 Dec 18.

PMID:
11935323
7.

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.

Eur J Paediatr Neurol. 2013 Jan;17(1):64-7. doi: 10.1016/j.ejpn.2012.08.006. Epub 2012 Sep 13.

PMID:
22981636
8.

[Severe form of hereditary neuralgic amyotrophy without SEPT9 gene mutation].

Cosson A, Mathieu A, Sevrin P, Nollet S, Tatu L.

Rev Neurol (Paris). 2011 Feb;167(2):169-72. doi: 10.1016/j.neurol.2010.07.001. Epub 2010 Aug 26. French.

PMID:
20800251
9.

Translational control of SEPT9 isoforms is perturbed in disease.

McDade SS, Hall PA, Russell SE.

Hum Mol Genet. 2007 Apr 1;16(7):742-52.

PMID:
17468182
10.
11.

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. 2013 Dec 23;203(6):895-905.

12.

Painful brachial plexopathies in SEPT9 mutations: adverse outcome related to comorbid states.

Hoque R, Schwendimann RN, Kelley RE, Bien-Willner R, Sivakumar K.

J Clin Neuromuscul Dis. 2008 Jun;9(4):379-84. doi: 10.1097/CND.0b013e318166ee89.

PMID:
18525421
13.

Hereditary Neuralgic Amyotrophy (HNA) is genetically heterogeneous.

Kuhlenbäumer G, Meuleman J, De Jonghe P, Falck B, Young P, Hünermund G, Van Broeckhoven C, Timmerman V, Stögbauer F.

J Neurol. 2001 Oct;248(10):861-5.

PMID:
11697522
14.

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. 1997 Dec;101(3):277-83.

PMID:
9439655
15.

Genetic refinement of the hereditary neuralgic amyotrophy (HNA) locus at chromosome 17q25.

Meulemann J, Kuhlenbäumer G, Schirmacher A, Wehnert M, De Jonghe P, De Vriendt E, Young P, Airaksinen E, Pou-Serradell A, Prats JM, Ringelstein B, Stögbauer F, Van Broeckhoven C, Timmerman V.

Eur J Hum Genet. 1999 Dec;7(8):920-7.

16.

Mutation analysis of 4 candidate genes for hereditary neuralgic amyotrophy (HNA).

Meuleman J, Kuhlenbäumer G, Audenaert D, Hünermund G, Hor H, Young P, Stögbauer F, Ringelstein EB, Van Broeckhoven C, De Jonghe P, Timmerman V.

Hum Genet. 2001 May;108(5):390-3.

PMID:
11409865
17.

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct genetic disorders.

Chance PF, Lensch MW, Lipe H, Brown RH Sr, Brown RH Jr, Bird TD.

Neurology. 1994 Dec;44(12):2253-7.

PMID:
7991108
18.

Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q.

Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF.

Neurology. 1996 Apr;46(4):1128-32.

PMID:
8780104
19.

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. 2008 Sep;74(3):279-83. doi: 10.1111/j.1399-0004.2008.01022.x. Epub 2008 May 19.

PMID:
18492087
20.

Genomic organization and mutation analysis of three candidate genes for hereditary neuralgic amyotrophy.

Hünermund G, Schirmacher A, Ringelstein B, Young P, Watts GD, Meuleman J, Nelis E, Chance PF, Timmerman V, Stögbauer F, Kuhlenbäumer G.

Muscle Nerve. 2004 Apr;29(4):601-4.

PMID:
15052627

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