about
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteinsMutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis.Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability.FUS-SMN protein interactions link the motor neuron diseases ALS and SMAALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesCharacterizing the RNA targets and position-dependent splicing regulation by TDP-43.Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients.Comment on "Drug screening for ALS using patient-specific induced pluripotent stem cells".The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case.The human serotonin transporter gene explains why some populations are more optimistic?Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian populationOptineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disordersAssociation of MAO A polymorphism and alcoholism in Brazilian femalesNo evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Agnes Lumi Nishimura
@ast
Agnes Lumi Nishimura
@en
Agnes Lumi Nishimura
@es
Agnes Lumi Nishimura
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type
label
Agnes Lumi Nishimura
@ast
Agnes Lumi Nishimura
@en
Agnes Lumi Nishimura
@es
Agnes Lumi Nishimura
@nl
prefLabel
Agnes Lumi Nishimura
@ast
Agnes Lumi Nishimura
@en
Agnes Lumi Nishimura
@es
Agnes Lumi Nishimura
@nl
P106
P1153
7201525085
P21
P31
P496
0000-0001-5295-797X