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Items: 1 to 20 of 39

1.

Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair.

Soomro A, Alsop RJ, Negishi A, Kreplak L, Fudge D, Kuczmarski ER, Goldman RD, Rheinstädter MC.

J R Soc Interface. 2017 Apr;14(129). pii: 20170123. doi: 10.1098/rsif.2017.0123.

2.

Pili canaliculi as manifestation of giant axonal neuropathy.

Almeida HL Jr, Garcias G, Silva RM, Batista SL, Pasetto F.

An Bras Dermatol. 2016 Sep-Oct;91(5 suppl 1):125-127. doi: 10.1590/abd1806-4841.20164677.

3.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.

Aharoni S, Barwick KE, Straussberg R, Harlalka GV, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH.

BMC Med Genet. 2016 Nov 16;17(1):82.

4.

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.

Israeli E, Dryanovski DI, Schumacker PT, Chandel NS, Singer JD, Julien JP, Goldman RD, Opal P.

Hum Mol Genet. 2016 Jun 1;25(11):2143-2157. Epub 2016 Mar 21.

5.

Autonomic nervous system involvement in the giant axonal neuropathy (GAN) KO mouse: implications for human disease.

Armao D, Bailey RM, Bouldin TW, Kim Y, Gray SJ.

Clin Auton Res. 2016 Aug;26(4):307-13. doi: 10.1007/s10286-016-0365-7. Epub 2016 Jul 1. Erratum in: Clin Auton Res. 2016 Dec;26(6):467.

6.

A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.

Kang JJ, Liu IY, Wang MB, Srivatsan ES.

Hum Genet. 2016 Jul;135(7):675-84. doi: 10.1007/s00439-016-1659-5. Epub 2016 Mar 29. Review.

PMID:
27023907
7.

Degradation of the Intermediate Filament Family by Gigaxonin.

Bomont P.

Methods Enzymol. 2016;569:215-31. doi: 10.1016/bs.mie.2015.07.009. Epub 2015 Aug 24. Review.

PMID:
26778561
8.

Abnormal intermediate filament organization alters mitochondrial motility in giant axonal neuropathy fibroblasts.

Lowery J, Jain N, Kuczmarski ER, Mahammad S, Goldman A, Gelfand VI, Opal P, Goldman RD.

Mol Biol Cell. 2016 Feb 15;27(4):608-16. doi: 10.1091/mbc.E15-09-0627. Epub 2015 Dec 23.

9.

Unusual Neuroimaging Findings in Two Families with Giant Axonal Neuropathy.

Jain P, Sharma S, Kamate M, Hattiholi V, Patra B, Mahadevan A, Aneja S.

Can J Neurol Sci. 2014 Nov;41(6):777-9. No abstract available.

PMID:
26693541
10.

Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.

Johnson-Kerner BL, Garcia Diaz A, Ekins S, Wichterle H.

PLoS One. 2015 Oct 13;10(10):e0140157. doi: 10.1371/journal.pone.0140157. eCollection 2015.

11.
12.

A mild case of giant axonal neuropathy without central nervous system manifestation.

Koichihara R, Saito T, Ishiyama A, Komaki H, Yuasa S, Saito Y, Nakagawa E, Sugai K, Shiihara T, Shioya A, Saito Y, Higuchi Y, Hashiguchi A, Takashima H, Sasaki M.

Brain Dev. 2016 Mar;38(3):350-3. doi: 10.1016/j.braindev.2015.09.001. Epub 2015 Sep 14.

PMID:
26381321
13.

Neurofilament dynamics and involvement in neurological disorders.

Gentil BJ, Tibshirani M, Durham HD.

Cell Tissue Res. 2015 Jun;360(3):609-20. doi: 10.1007/s00441-014-2082-7. Epub 2015 Jan 8. Review.

PMID:
25567110
14.

Giant axonal disease: Report of eight cases.

Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S.

Brain Dev. 2015 Sep;37(8):803-7. doi: 10.1016/j.braindev.2014.12.002. Epub 2014 Dec 19.

PMID:
25533284
15.

Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.

Johnson-Kerner BL, Ahmad FS, Diaz AG, Greene JP, Gray SJ, Samulski RJ, Chung WK, Van Coster R, Maertens P, Noggle SA, Henderson CE, Wichterle H.

Hum Mol Genet. 2015 Mar 1;24(5):1420-31. doi: 10.1093/hmg/ddu556. Epub 2014 Nov 4.

16.

Role of optic microscopy for early diagnosis of Menkes disease.

Craiu D, Kaler S, Craiu M.

Rom J Morphol Embryol. 2014;55(3):953-6.

17.

Giant axonal neuropathy: a rare inherited neuropathy with simple clinical clues.

Kamate M, Ramakrishna S, Kambali S, Mahadevan A.

BMJ Case Rep. 2014 Sep 12;2014. pii: bcr2014204481. doi: 10.1136/bcr-2014-204481.

18.

Giant axonal neuropathy.

Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N, Nagappa M, Sinha S.

J Child Neurol. 2015 Jun;30(7):912-5. doi: 10.1177/0883073814547721. Epub 2014 Sep 11.

PMID:
25213662
19.

Measuring disease progression in giant axonal neuropathy: implications for clinical trial design.

Roth LA, Marra JD, LaMarca NH, Sproule DM.

J Child Neurol. 2015 May;30(6):741-8. doi: 10.1177/0883073814542946. Epub 2014 Sep 3.

PMID:
25186661
20.

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

Miyatake S, Tada H, Moriya S, Takanashi J, Hirano Y, Hayashi M, Oya Y, Nakashima M, Tsurusaki Y, Miyake N, Matsumoto N, Saitsu H.

Clin Genet. 2015 Apr;87(4):395-7. doi: 10.1111/cge.12455. Epub 2014 Sep 8. No abstract available.

PMID:
25040701

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