| 1 | CMT2CC, NEFH
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| Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
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| Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S.
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| Am J Hum Genet 98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31. 2016
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| 2 | NEFH
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| Detection of neurofilament-H in serum as a diagnostic tool to predict injury severity in patients who have suffered mild traumatic brain injury.
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| Gatson JW, Barillas J, Hynan LS, Diaz-Arrastia R, Wolf SE, Minei JP.
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| J Neurosurg 121(5):1232-8. doi: 10.3171/2014.7.JNS132474. Epub 2014 Sep 5.
2014
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| 3 | NEFH
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| Phosphorylated neurofilament heavy subunit (pNF-H) in peripheral blood and CSF as a potential prognostic biomarker in amyotrophic lateral sclerosis.
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| Boylan KB, Glass JD, Crook JE, Yang C, Thomas CS, Desaro P, Johnston A, Overstreet K, Kelly C, Polak M, Shaw G.
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| J Neurol Neurosurg Psychiatry 84(4):467-72. doi: 10.1136/jnnp-2012-303768. Epub 2012 Oct 31.
2013
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| 4 | NEFH, NEFM
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| The C-terminal domains of NF-H and NF-M subunits maintain axonal neurofilament content by blocking turnover of the stationary neurofilament network.
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| Rao MV, Yuan A, Campbell J, Kumar A, Nixon RA.
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| PLoS One 7(9):e44320. doi: 10.1371/journal.pone.0044320. Epub 2012 Sep 21.
2012
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| 5 | NEFH
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| Neurofilament heavy chain expression reveals a unique parasagittal stripe topography in the mouse cerebellum.
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| Demilly A, Reeber SL, Gebre SA, Sillitoe RV.
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| Cerebellum 10(3):409-21. doi: 10.1007/s12311-010-0156-y.
2011
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| 6 | NEFH
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| Distal to proximal development of peripheral nerves requires the expression of neurofilament heavy.
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| Shen H, Barry DM, Garcia ML.
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| Neuroscience 170(1):16-21. doi: 10.1016/j.neuroscience.2010.07.014. Epub 2010 Jul 13.
2010
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| 7 | NEFH, NEFL, NEFM
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| How the projection domains of NF-L and alpha-internexin determine the conformations of NF-M and NF-H in neurofilaments.
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| Leermakers FA, Zhulina EB.
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| Eur Biophys J 39(9):1323-34. doi: 10.1007/s00249-010-0585-z. Epub 2010 Mar 7. Erratum in: Eur Biophys J. 2010 Aug;39(9):1373.
2010
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| 8 | NEFH
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| Detection of phosphorylated NF-H in the cerebrospinal fluid and blood of aneurysmal subarachnoid hemorrhage patients.
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| Lewis SB, Wolper RA, Miralia L, Yang C, Shaw G.
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| J Cereb Blood Flow Metab 28(6):1261-71. doi: 10.1038/jcbfm.2008.12. Epub 2008 Mar 5. Erratum in: J Cereb Blood Flow Metab. 2008 Jun;28(6):1274.
2008
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| 9 | NEFH
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| Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND).
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| Skvortsova V, Shadrina M, Slominsky P, Levitsky G, Kondratieva E, Zherebtsova A, Levitskaya N, Alekhin A, Serdyuk A, Limborska S.
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| Eur J Hum Genet 12(3):241-4. 2004
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| 10 | ALS1, ALS2, ALS3, ALS4, ALS5, ALS6, ALS7, ALS8, NEFH, VEGFA, SMN1, SMN2, SLC1A2, GRIA2
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| Complex genetics of amyotrophic lateral sclerosis.
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| Kunst CB.
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| Am J Hum Genet 75(6):933-47. Epub 2004 Oct 11. No abstract available. 2004
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| 11 | NEFH
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| Peripherin-mediated death of motor neurons rescued by overexpression of neurofilament NF-H proteins.
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| Beaulieu JM, Julien JP.
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| J Neurochem 85(1):248-56.
2003
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| 12 | NEFH
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| Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
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| Al-Chalabi A, et al.
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| Hum Mol Genet 8 : 157-164. 1999
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| 13 | NEFH
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| Requirement of heavy neurofilament subunit in the development of axons with large calibers.
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| Elder GA, Friedrich VL Jr, Kang C, Bosco P, Gourov A, Tu PH, Zhang B, Lee VM, Lazzarini RA.
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| J Cell Biol 143(1):195-205. 1998
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| 14 | NEFH
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| Neurofilament-dependent radial growth of motor axons and axonal organization of neurofilaments does not require the neurofilament heavy subunit (NF-H) or its phosphorylation.
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| Rao MV, Houseweart MK, Williamson TL, Crawford TO, Folmer J, Cleveland DW.
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| J Cell Biol 143(1):171-81. 1998
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| 15 | NEFH
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| Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.
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| Figlewicz DA, et al.
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| Hum Mol Genet 3 : 1757-1761. 1994
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| 16 | NEFH
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| HincII RFLP in the human gene for the heavy neurofilament subunit (NF-H).
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| Lacoste-Royal G, et al.
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| Nucleic Acids Res 17 : 6434. 1989
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| 17 | NEFH, NEFHL
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| Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H) : developmental and tissue expression in the rat, and mapping of its human homologue to chromosomes 1 and 22.
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| Lieberburg I, et al.
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| Proc Natl Acad Sci U S A 86 : 2463-2467. 1989
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| 18 | NEFH, NEFHL
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| The gene encoding the large human neurofilament subunit (NF-H) maps to the q121-q131 region on human chromosome 22.
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| Mattei MG, et al.
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| Hum Genet 80 : 293-295. 1988
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| 19 | NEFH
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| The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it.
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| Lees JF, Shneidman PS, Skuntz SF, Carden MJ, Lazzarini RA.
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| EMBO J 7(7):1947-55. 1988
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