(Q40045594)

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6 March 2020

title

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan (English)

1 reference

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amyotrophic lateral sclerosis

6 March 2020

main subject

0 references

author

Hitoshi Warita

2

1 reference

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6 March 2020

Naoki Suzuki

8

1 reference

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6 March 2020

Tetsuya Akiyama

1

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6 March 2020

author name string

Masaaki Kato

3

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6 March 2020

Ayumi Nishiyama

4

1 reference

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6 March 2020

Rumiko Izumi

5

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6 March 2020

Chikako Ikeda

6

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6 March 2020

Masaki Kamada

7

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6 March 2020

Masashi Aoki

9

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6 March 2020

publication date

23 February 2016

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6 March 2020

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6 March 2020

volume

54

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6 March 2020

issue

3

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6 March 2020

page(s)

398-404

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Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study

6 March 2020

cites work

1 reference

Amyotrophic lateral sclerosis.

21 January 2018

1 reference

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

21 January 2018

1 reference

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

Familial amyotrophic lateral sclerosis

21 January 2018

1 reference

Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

21 January 2018

1 reference

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

21 January 2018

1 reference

Chapter 15 Juvenile amyotrophic lateral sclerosis

21 January 2018

1 reference

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update

21 January 2018

1 reference

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

21 January 2018

1 reference

Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

1 reference

Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants

21 January 2018

1 reference

Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosis

21 January 2018

1 reference

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion.

21 January 2018

1 reference

FUS/TLS-immunoreactive neuronal and glial cell inclusions increase with disease duration in familial amyotrophic lateral sclerosis with an R521C FUS/TLS mutation.

21 January 2018

1 reference

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

21 January 2018

1 reference

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis.

21 January 2018

1 reference

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

21 January 2018

1 reference

Mutations in FUS cause FALS and SALS in French and French Canadian populations

21 January 2018

1 reference

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

21 January 2018

1 reference

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

Rethinking ALS: the FUS about TDP-43.

21 January 2018

1 reference

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

21 January 2018

1 reference

Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany

21 January 2018

1 reference

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

21 January 2018

1 reference

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

21 January 2018

1 reference

Novel FUS mutations identified through molecular screening in a large cohort of familial and sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

State of play in amyotrophic lateral sclerosis genetics

21 January 2018

1 reference

Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research

21 January 2018

1 reference

Optineurin and amyotrophic lateral sclerosis.

21 January 2018

1 reference

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

21 January 2018

1 reference

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

21 January 2018

1 reference

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

21 January 2018

1 reference

Genetic contribution of FUS to frontotemporal lobar degeneration

21 January 2018

1 reference

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement.

21 January 2018

1 reference

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

21 January 2018

1 reference

The G93C Mutation in Superoxide Dismutase 1

21 January 2018

1 reference

The occurrence of mutations inFUSin a Belgian cohort of patients with familial ALS

21 January 2018

1 reference

SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: A United States clinical testing lab experience

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/MUS.25061

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26823199%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference