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Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.
Arribat Y, Mysiak KS, Lescouzères L, Boizot A, Ruiz M, Rossel M, Bomont P. Arribat Y, et al. J Clin Invest. 2019 Dec 2;129(12):5312-5326. doi: 10.1172/JCI129788. J Clin Invest. 2019. PMID: 31503551 Free PMC article.
Here, we studied the molecular mechanisms causing giant axonal neuropathy (GAN), a severe neurodegenerative disease due to loss-of-function of the gigaxonin-E3 ligase. ...
Here, we studied the molecular mechanisms causing giant axonal neuropathy (GAN), a severe neurodegenerative disease due …
Giant axonal neuropathy: An updated perspective on its pathology and pathogenesis.
Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM. Johnson-Kerner BL, et al. Muscle Nerve. 2014 Oct;50(4):467-76. doi: 10.1002/mus.24321. Muscle Nerve. 2014. PMID: 24947478 Review.
Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease. It is best known for the "giant" axons caused by accumulations of intermediate filaments. ...To reflect this phenotype more precisely, we therefore propose that the disease sh
Giant axonal neuropathy (GAN) is a rare pediatric neurodegenerative disease. It is best known for the "giant" ax
A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer.
Kang JJ, Liu IY, Wang MB, Srivatsan ES. Kang JJ, et al. Hum Genet. 2016 Jul;135(7):675-84. doi: 10.1007/s00439-016-1659-5. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023907 Review.
Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant axonal neuropathy (GAN). ...Mutations of the gene cause pre-neural filaments to accumulate and form giant axons result …
Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant
AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials.
Hardcastle N, Boulis NM, Federici T. Hardcastle N, et al. Expert Opin Biol Ther. 2018 Mar;18(3):293-307. doi: 10.1080/14712598.2018.1416089. Epub 2017 Dec 18. Expert Opin Biol Ther. 2018. PMID: 29249183 Review.
Phase 1 clinical trials using AAV gene therapy for pediatric disorders - spinal muscular atrophy (SMA) and giant axonal neuropathy (GAN) - are now underway. ...
Phase 1 clinical trials using AAV gene therapy for pediatric disorders - spinal muscular atrophy (SMA) and giant axonal neu
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. Soomro A, et al. J R Soc Interface. 2017 Apr;14(129):20170123. doi: 10.1098/rsif.2017.0123. J R Soc Interface. 2017. PMID: 28424304 Free PMC article.
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. ...
Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central
Production of Recombinant Adeno-associated Virus Vectors Using Suspension HEK293 Cells and Continuous Harvest of Vector From the Culture Media for GMP FIX and FLT1 Clinical Vector.
Grieger JC, Soltys SM, Samulski RJ. Grieger JC, et al. Mol Ther. 2016 Feb;24(2):287-297. doi: 10.1038/mt.2015.187. Epub 2015 Oct 6. Mol Ther. 2016. PMID: 26437810 Free PMC article.
To date, this scalable manufacturing technology has been utilized to manufacture GMP phase 1 clinical AAV vectors for retinal neovascularization (AAV2), Hemophilia B (scAAV8), giant axonal neuropathy (scAAV9), and retinitis pigmentosa (AAV2), which have been …
To date, this scalable manufacturing technology has been utilized to manufacture GMP phase 1 clinical AAV vectors for retinal neovasculariza …
Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens.
Armao D, Bouldin TW, Bailey RM, Hooper JE, Bharucha DX, Gray SJ. Armao D, et al. Orphanet J Rare Dis. 2019 Feb 1;14(1):27. doi: 10.1186/s13023-018-0957-5. Orphanet J Rare Dis. 2019. PMID: 30709364 Free PMC article.
Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). ...
Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder ass
Neurofilament dynamics and involvement in neurological disorders.
Gentil BJ, Tibshirani M, Durham HD. Gentil BJ, et al. Cell Tissue Res. 2015 Jun;360(3):609-20. doi: 10.1007/s00441-014-2082-7. Epub 2015 Jan 8. Cell Tissue Res. 2015. PMID: 25567110 Review.
Disruption of neurofilament organization and expression or metabolism of neurofilament proteins is characteristic of certain neurological syndromes including Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth sensorimotor neuropathies and Giant Axonal Neuropathy
Disruption of neurofilament organization and expression or metabolism of neurofilament proteins is characteristic of certain neurological sy …
Giant axonal neuropathy: A differential diagnosis of consideration.
Edem P, Karakaya M, Wirth B, Okur TD, Yiş U. Edem P, et al. Turk J Pediatr. 2019;61(2):275-278. doi: 10.24953/turkjped.2019.02.019. Turk J Pediatr. 2019. PMID: 31951341 Free article.
Giant axonal neuropathy: A differential diagnosis of consideration. Turk J Pediatr 2019; 61: 275-278. Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the central and peripheral nervous systems progressive
Giant axonal neuropathy: A differential diagnosis of consideration. Turk J Pediatr 2019; 61: 275-278. Giant a
Giant axonal neuropathy.
Vijaykumar K, Bindu PS, Taly AB, Mahadevan A, Bharath RD, Gayathri N, Nagappa M, Sinha S. Vijaykumar K, et al. J Child Neurol. 2015 Jun;30(7):912-5. doi: 10.1177/0883073814547721. Epub 2014 Sep 11. J Child Neurol. 2015. PMID: 25213662
Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. ...Sural nerve biopsy demonstrated giant axons with neuro
Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year
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