Abstract:
:Mutations in the OPTN gene are well known to be associated with the development of glaucoma. Recently, unique variations in the same gene have been reported in familial and sporadic Japanese cases of amyotrophic lateral sclerosis (ALS). We set out to evaluate the frequency of OPTN mutations in a sample of our familial and sporadic ALS cohorts. All coding exons of the OPTN gene were amplified and sequenced in 95 unrelated familial ALS (FALS) and 95 sporadic ALS (SALS) cases of European descent. Two variants were newly identified in 2 individual FALS cases. Unique variations in the OPTN gene are rare in FALS cases and were not identified in any SALS patients, all of European descent.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Belzil VV,Daoud H,Desjarlais A,Bouchard JP,Dupré N,Camu W,Dion PA,Rouleau GAdoi
10.1016/j.neurobiolaging.2010.10.001subject
Has Abstractpub_date
2011-03-01 00:00:00pages
555.e13-4issue
3eissn
0197-4580issn
1558-1497pii
S0197-4580(10)00424-0journal_volume
32pub_type
杂志文章abstract::The triple transgenic mouse model (3×TgAD: APPswe, TauP301L, PS1M146V) recapitulates both amyloid β (Aβ)- and tau-related lesions as well as synaptic and memory deficits. In these mice, we reported an early apathy-like behavior and alterations in synaptic plasticity appearing concomitantly with intraneuronal accumulat...
journal_title:Neurobiology of aging
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abstract::Amyotrophic lateral sclerosis (ALS) is a complex fatal neurodegenerative disease characterized by progressive degeneration and loss of upper motor neurons in the cerebral cortex and lower motor neurons in brainstem and spinal cord. We established the frequencies of mutations in 4 major ALS-associated genes, SOD1, TARD...
journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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更新日期:1995-11-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章,评审
doi:10.1016/0197-4580(91)90116-2
更新日期:1991-11-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2007.03.007
更新日期:2008-09-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2016.05.011
更新日期:2016-09-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2010.07.002
更新日期:2012-06-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2015.11.002
更新日期:2016-03-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2011.11.006
更新日期:2012-06-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/s0197-4580(00)00099-3
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2004.06.015
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2013.06.024
更新日期:2014-01-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2014.07.038
更新日期:2015-01-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2018.10.028
更新日期:2019-08-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/s0197-4580(03)00041-1
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abstract:OBJECTIVE:This longitudinal study used FDG-PET imaging to predict and monitor cognitive decline from normal aging. METHODS:Seventy-seven 50-80-year-old normal (NL) elderly received longitudinal clinical examinations over 6-14 years (561 person-years, mean per person 7.2 years). All subjects had a baseline FDG-PET scan...
journal_title:Neurobiology of aging
pub_type: 杂志文章
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journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/j.neurobiolaging.2018.02.012
更新日期:2018-06-01 00:00:00
abstract::Age-related changes in resting levels of the free intracellular calcium concentration ([Ca2+]i) as well as alterations of the rise in [Ca2+]i following depolarization have been investigated in acutely isolated brain cells of various regions of the rat brain. Characterization of the Ca2+ responses following KCl depolar...
journal_title:Neurobiology of aging
pub_type: 杂志文章
doi:10.1016/0197-4580(96)84400-9
更新日期:1996-07-01 00:00:00
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journal_title:Neurobiology of aging
pub_type: 杂志文章
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更新日期:2020-02-01 00:00:00