List of works - Agnes Lumi Nishimura

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

article

A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins

scientific article

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

scientific article

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

scientific article published on 7 March 2013

Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia

scientific article published in January 2004

Association of MAO A polymorphism and alcoholism in Brazilian females

article

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

scientific article

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

scientific article published on 27 February 2011

Comment on "Drug screening for ALS using patient-specific induced pluripotent stem cells".

scientific article published on June 2013

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

scientific article

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients

scientific article published on January 2004

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

scientific article published in January 2005

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

scientific article published on 26 March 2012

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

scientific article (publication date: 27 February 2009)

No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients

article

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

scientific article

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

scientific article published on 01 March 2011

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

scientific article

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis

scientific article

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

scientific article published in May 2005

The human serotonin transporter gene explains why some populations are more optimistic?

scientific article published in September 2009

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

scientific article published on March 2010

List of works by Agnes Lumi Nishimura

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia

Association of MAO A polymorphism and alcoholism in Brazilian females

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

Comment on "Drug screening for ALS using patient-specific induced pluripotent stem cells".

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

The human serotonin transporter gene explains why some populations are more optimistic?

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case