(Q45254148)

11 December 2017

title

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

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amyotrophic lateral sclerosis

11 December 2017

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S Waibel

1

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M Neumann

2

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A Rosenbohm

3

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A Birve

4

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A E Volk

5

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J H Weishaupt

6

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T Meyer

7

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U Müller

8

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P M Andersen

9

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A C Ludolph

10

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publication date

6 December 2012

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European Journal of Neurology

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published in

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volume

20

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11 December 2017

issue

3

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11 December 2017

page(s)

540-546

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Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

11 December 2017

cites work

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

21 January 2018

1 reference

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

21 January 2018

1 reference

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

1 reference

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

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

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

1 reference

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

Awaji diagnostic algorithm increases sensitivity of El Escorial criteria for ALS diagnosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

21 January 2018

1 reference

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS.

21 January 2018

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Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations

21 January 2018

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Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS

21 January 2018

1 reference

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

21 January 2018

1 reference

Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions

21 January 2018

1 reference

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

Proposed criteria for familial amyotrophic lateral sclerosis

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

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Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/ENE.12031

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11 December 2017

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