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1987 1
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1989 3
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1997 1
1999 1
2000 2
2001 1
2002 1
2004 1
2007 1
2011 1
2012 2
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39 results

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Page 1
Current Clinical Applications of In Vivo Gene Therapy with AAVs.
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP. Mendell JR, et al. Mol Ther. 2021 Feb 3;29(2):464-488. doi: 10.1016/j.ymthe.2020.12.007. Epub 2020 Dec 10. Mol Ther. 2021. PMID: 33309881 Free PMC article. Review.
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular myopathy [XLMTM]; and diseases of the central nervous system, including Alzheimer's disease, Parkinson's disease, Canavan disease, aromatic l- …
We review gene therapy for neuromuscular disorders (spinal muscular atrophy [SMA]; Duchenne muscular dystrophy [DMD]; X-linked myotubular my …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Giant axonal neuropathy.
Hentati F, Hentati E, Amouri R. Hentati F, et al. Handb Clin Neurol. 2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. Handb Clin Neurol. 2013. PMID: 23931822 Review.
Giant axonal neuropathy (GAN) is a rare hereditary autosomal recessive neurodegenerative disease affecting both the peripheral and the central nervous system. ...The prognosis is usually severe with death occurring during the second or third decade; neverthel
Giant axonal neuropathy (GAN) is a rare hereditary autosomal recessive neurodegenerative disease affecting both the per
Giant axonal neuropathy.
Yang Y, Allen E, Ding J, Wang W. Yang Y, et al. Cell Mol Life Sci. 2007 Mar;64(5):601-9. doi: 10.1007/s00018-007-6396-4. Cell Mol Life Sci. 2007. PMID: 17256086 Free PMC article. Review.
Giant axonal neuropathy (GAN) is a rare autosomal recessive disorder affecting both the central and peripheral nervous systems. Cytopathologically, the disorder is characterized by giant axons with derangements of cytoskeletal components. Geneticists r
Giant axonal neuropathy (GAN) is a rare autosomal recessive disorder affecting both the central and peripheral nervous
Orphan Peripheral Neuropathies.
Finsterer J, Löscher WN, Wanschitz J, Iglseder S. Finsterer J, et al. J Neuromuscul Dis. 2021;8(1):1-23. doi: 10.3233/JND-200518. J Neuromuscul Dis. 2021. PMID: 32986679 Free PMC article. Review.
Schindler disease), peroxisomal disorders, porphyrias, and other types (e.g. giant axonal neuropathy, Tangier disease). Orphan acquired neuropathies include the metabolic neuropathies (e.g. vitamin-B1, folic acid), toxic neuropathies (e.g. copper, lithium, le …
Schindler disease), peroxisomal disorders, porphyrias, and other types (e.g. giant axonal neuropathy, Tangier disease). …
Giant axonal neuropathy.
Gordon N. Gordon N. Dev Med Child Neurol. 2004 Oct;46(10):717-9. doi: 10.1017/s0012162204001215. Dev Med Child Neurol. 2004. PMID: 15473179 Free article. Review. No abstract available.
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). Gigaxonin is an E3 ubiquitin ligase adaptor protein involved in intermediate filament processing in …
Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant
O-GlcNAcylation and Its Roles in Neurodegenerative Diseases.
Du P, Zhang X, Lian X, Hölscher C, Xue G. Du P, et al. J Alzheimers Dis. 2024;97(3):1051-1068. doi: 10.3233/JAD-230955. J Alzheimers Dis. 2024. PMID: 38250776 Review.
This paper reviews recent studies on O-GlcNAcylation's roles in several neurodegenerative disorders such as Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease, Machado-Joseph's disease, and giant axonal neuropathy, a …
This paper reviews recent studies on O-GlcNAcylation's roles in several neurodegenerative disorders such as Alzheimer's disease, Parkinson's …
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
Giant axonal neuropathy. A review.
Ouvrier RA. Ouvrier RA. Brain Dev. 1989;11(4):207-14. doi: 10.1016/s0387-7604(89)80038-5. Brain Dev. 1989. PMID: 2549797 Review.
First reported in 1972 by Berg & colleagues, giant axonal neuropathy is a generalized disorder of cytoplasmic intermediate filaments affecting the nervous system particularly. ...
First reported in 1972 by Berg & colleagues, giant axonal neuropathy is a generalized disorder of cytoplasmic inter …
39 results