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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1978 1
1979 1
1983 1
1985 1
1986 2
1988 3
1989 8
1990 6
1991 15
1992 16
1993 22
1994 21
1995 20
1996 24
1997 18
1998 25
1999 36
2000 38
2001 37
2002 23
2003 27
2004 22
2005 18
2006 23
2007 30
2008 27
2009 21
2010 12
2011 13
2012 8
2013 14
2014 12
2015 23
2016 15
2017 7
2018 14
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2020 10
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2023 5
2024 1

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616 results

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Page 1
Pompe disease: pathogenesis, molecular genetics and diagnosis.
Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Taverna S, et al. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3. Aging (Albany NY). 2020. PMID: 32745073 Free PMC article. Review.
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). ...
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome
MAPT mutations, tauopathy, and mechanisms of neurodegeneration.
Strang KH, Golde TE, Giasson BI. Strang KH, et al. Lab Invest. 2019 Jul;99(7):912-928. doi: 10.1038/s41374-019-0197-x. Epub 2019 Feb 11. Lab Invest. 2019. PMID: 30742061 Free PMC article. Review.
In multiple neurodegenerative diseases, including Alzheimer's disease (AD), a prominent pathological feature is the aberrant aggregation and inclusion formation of the microtubule-associated protein tau. Because of the pathological association, these disorders are o …
In multiple neurodegenerative diseases, including Alzheimer's disease (AD), a prominent pathological feature is the aberrant aggregat …
Tau protein isoforms, phosphorylation and role in neurodegenerative disorders.
Buée L, Bussière T, Buée-Scherrer V, Delacourte A, Hof PR. Buée L, et al. Brain Res Brain Res Rev. 2000 Aug;33(1):95-130. doi: 10.1016/s0165-0173(00)00019-9. Brain Res Brain Res Rev. 2000. PMID: 10967355 Review.
Tau proteins are the major constituents of intraneuronal and glial fibrillar lesions described in Alzheimer's disease and numerous neurodegenerative disorders referred to as 'tauopathies'. ...The recent discovery of tau gene mutations in frontotemporal dementia with …
Tau proteins are the major constituents of intraneuronal and glial fibrillar lesions described in Alzheimer's disease and numerous ne …
Charcot-Marie-Tooth syndrome.
Chance PF, Pleasure D. Chance PF, et al. Arch Neurol. 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006. Arch Neurol. 1993. PMID: 8215977 Review.
Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. The CMT loci are known to map to chromosome 1 (CMT1B), chromosome 17 (CMT1A), the X chromosome (CMTX), and two additional unknown autosomes (CMT1C and CMT2). T …
Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. The CMT loci are known to map to …
Orthopaedic Manifestations of Neurofibromatosis Type I.
Evans TJ, Wang X, Binitie O. Evans TJ, et al. J Am Acad Orthop Surg. 2022 Dec 1;30(23):e1495-e1503. doi: 10.5435/JAAOS-D-22-00076. J Am Acad Orthop Surg. 2022. PMID: 36400059 Review.
Neurofibromatosis type 1 (NF1) is a congenital disease which is caused by mutations in the NF1 gene on chromosome 17, resulting in an altered function of the neurofibromin protein. ...
Neurofibromatosis type 1 (NF1) is a congenital disease which is caused by mutations in the NF1 gene on chromosome 17, r …
Inherited neuropathies.
Chance PF, Reilly M. Chance PF, et al. Curr Opin Neurol. 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. Curr Opin Neurol. 1994. PMID: 7804455 Review.
Charcot-Marie-Tooth neuropathy (CMT) type 1 is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B), the X chromosome (CMTX), and to another unknown autosome (CMT1C). ...Familial …
Charcot-Marie-Tooth neuropathy (CMT) type 1 is a genetically heterogeneous group of chronic demyelinating polyneuropathies with loci mapping …
Genetics of frontotemporal dementia in China.
Jiang Y, Jiao B, Xiao X, Shen L. Jiang Y, et al. Amyotroph Lateral Scler Frontotemporal Degener. 2021 Aug;22(5-6):321-335. doi: 10.1080/21678421.2021.1880596. Epub 2021 Feb 4. Amyotroph Lateral Scler Frontotemporal Degener. 2021. PMID: 33538206 Review.
The correlations between genes and clinical manifestations were MAPT and frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), GRN and frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP), C9orf72/CHCHD10/TBK1 and amyotrophic …
The correlations between genes and clinical manifestations were MAPT and frontotemporal dementia and parkinsonism linked to chromosome
Frontotemporal dementia.
Graff-Radford NR, Woodruff BK. Graff-Radford NR, et al. Semin Neurol. 2007 Feb;27(1):48-57. doi: 10.1055/s-2006-956755. Semin Neurol. 2007. PMID: 17226741 Review.
The best-known genetic mutation causing FTD is frontotemporal dementia with parkinsonism, linked to the microtubule-associated protein tau on chromosome 17. There are other known genes and chromosome loci related to FTD. ...Although there are strategies to help pati …
The best-known genetic mutation causing FTD is frontotemporal dementia with parkinsonism, linked to the microtubule-associated protein tau o …
Inherited peripheral neuropathy.
Keller MP, Chance PF. Keller MP, et al. Semin Neurol. 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. Semin Neurol. 1999. PMID: 10716658 Review.
Hereditary disorders of the peripheral nerves constitute a group of frequently encountered neurological diseases. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is genetically heterogeneous and characterized by demyelination with moderately to severely reduced nerve conducti …
Hereditary disorders of the peripheral nerves constitute a group of frequently encountered neurological diseases. Charcot-Marie-Tooth …
Chromosome 17-linked dementias.
Wilhelmsen KC. Wilhelmsen KC. Cell Mol Life Sci. 1998 Sep;54(9):920-4. doi: 10.1007/s000180050221. Cell Mol Life Sci. 1998. PMID: 9791534 Free PMC article. Review.
Chromosome 17-linked dementias have been defined by linkage analysis. ...The identification of the mutation responsible for these conditions in a group of clinically and pathologically heterogeneous disorders may allow us to gain broad insight into the proces
Chromosome 17-linked dementias have been defined by linkage analysis. ...The identification of the mutation responsible for th
616 results