Similar articles for PMID: 17578852

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1

New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

Houlden H, Groves M, Miedzybrodzka Z, Roper H, Willis T, Winer J, Cole G, Reilly MM. Houlden H, et al. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1267-70. doi: 10.1136/jnnp.2007.118968. Epub 2007 Jun 19. J Neurol Neurosurg Psychiatry. 2007. PMID: 17578852 Free PMC article.

2

Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1.

Tazir M, Vallat JM, Bomont P, Zemmouri R, Sindou P, Assami S, Nouioua S, Hammadouche T, Grid D, Koenig M. Tazir M, et al. Neuromuscul Disord. 2002 Nov;12(9):849-52. doi: 10.1016/s0960-8966(02)00029-9. Neuromuscul Disord. 2002. PMID: 12398836 Clinical Trial.

3

The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. Bomont P, et al. Nat Genet. 2000 Nov;26(3):370-4. doi: 10.1038/81701. Nat Genet. 2000. PMID: 11062483

4

Giant axonal neuropathy: clinical and genetic study in six cases.

Demir E, Bomont P, Erdem S, Cavalier L, Demirci M, Kose G, Muftuoglu S, Cakar AN, Tan E, Aysun S, Topcu M, Guicheney P, Koenig M, Topaloglu H. Demir E, et al. J Neurol Neurosurg Psychiatry. 2005 Jun;76(6):825-32. doi: 10.1136/jnnp.2003.035162. J Neurol Neurosurg Psychiatry. 2005. PMID: 15897506 Free PMC article.

5

Phenotypic variability in giant axonal neuropathy.

Tazir M, Nouioua S, Magy L, Huehne K, Assami S, Urtizberea A, Grid D, Hamadouche T, Rautenstrauss B, Vallat JM. Tazir M, et al. Neuromuscul Disord. 2009 Apr;19(4):270-4. doi: 10.1016/j.nmd.2009.01.011. Epub 2009 Feb 23. Neuromuscul Disord. 2009. PMID: 19231187

6

Clinical, pathological and molecular findings in two siblings with giant axonal neuropathy (GAN): report from India.

Nalini A, Gayathri N, Yasha TC, Ravishankar S, Urtizberea A, Huehne K, Rautenstrauss B. Nalini A, et al. Eur J Med Genet. 2008 Sep-Oct;51(5):426-35. doi: 10.1016/j.ejmg.2008.05.006. Epub 2008 Jun 17. Eur J Med Genet. 2008. PMID: 18595793

7

Giant axonal disease: Report of eight cases.

Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S. Incecik F, et al. Brain Dev. 2015 Sep;37(8):803-7. doi: 10.1016/j.braindev.2014.12.002. Epub 2014 Dec 19. Brain Dev. 2015. PMID: 25533284

8

Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gärtner J, Claeys KG, Appenzeller S, Rautenstrauss B, Hühne K, Ramos-Arroyo MA, Wörle H, Moilanen JS, Hammans S, Kuhlenbäumer G. Koop O, et al. Neuromuscul Disord. 2007 Aug;17(8):624-30. doi: 10.1016/j.nmd.2007.03.012. Epub 2007 Jun 22. Neuromuscul Disord. 2007. PMID: 17587580

9

Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

Bruno C, Bertini E, Federico A, Tonoli E, Lispi ML, Cassandrini D, Pedemonte M, Santorelli FM, Filocamo M, Dotti MT, Schenone A, Malandrini A, Minetti C. Bruno C, et al. Neurology. 2004 Jan 13;62(1):13-6. doi: 10.1212/01.wnl.0000101676.41505.a7. Neurology. 2004. PMID: 14718689

10

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Laurà M, Milani M, Morbin M, Moggio M, Ripolone M, Jann S, Scaioli V, Taroni F, Pareyson D. Laurà M, et al. J Neurol Neurosurg Psychiatry. 2007 Nov;78(11):1263-6. doi: 10.1136/jnnp.2006.112276. J Neurol Neurosurg Psychiatry. 2007. PMID: 17940173 Free PMC article.

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