(Q39657178)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300876%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions (English)

1 reference

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21 January 2020

1 reference

1

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21 January 2020

Renate K Hukema

4

1 reference

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21 January 2020

John Van Swieten

21

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21 January 2020

Yolande A L Pijnenburg

19

object named as

Yolande A L Pijnenburg

1 reference

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21 January 2020

9

Natasja M van Schoor

1 reference

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21 January 2020

Leonard H van den Berg

13

object named as

Leonard H van den Berg

1 reference

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21 January 2020

10

Dorly J H Deeg

1 reference

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21 January 2020

author name string

Elise G P Dopper

2

1 reference

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21 January 2020

Petra E Cohn-Hokke

3

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21 January 2020

Nayia Nicolaou

5

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21 January 2020

Harro Seelaar

6

1 reference

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21 January 2020

J Roos A de Graaf

7

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21 January 2020

Inge de Koning

8

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21 January 2020

Marion Smits

11

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21 January 2020

Joost Raaphorst

12

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21 January 2020

Helenius J Schelhaas

14

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21 January 2020

Christine E M De Die-Smulders

15

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21 January 2020

Danielle Majoor-Krakauer

16

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21 January 2020

Annemieke J M Rozemuller

17

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21 January 2020

Rob Willemsen

18

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21 January 2020

Peter Heutink

20

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21 January 2020

language of work or name

English

0 references

publication date

1 February 2012

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21 January 2020

1 reference

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21 January 2020

volume

135

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21 January 2020

issue

Pt 3

1 reference

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21 January 2020

page(s)

723-735

1 reference

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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

21 January 2020

cites work

1 reference

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Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

21 January 2018

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TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

21 January 2018

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Predicting survival in frontotemporal dementia with motor neuron disease

21 January 2018

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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR353

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

21 January 2018

1 reference

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Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation

21 January 2018

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Comparison of family histories in FTLD subtypes and related tauopathies

21 January 2018

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Classification of primary progressive aphasia and its variants

21 January 2018

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Genetics of familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin.

21 January 2018

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Semantic dementia: demography, familial factors and survival in a consecutive series of 100 cases

21 January 2018

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Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

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Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

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Semantic dementia combined with motor neuron disease

21 January 2018

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Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement

21 January 2018

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Frontotemporal lobar degeneration with motor neuron disease showing severe and circumscribed atrophy of anterior temporal lobes

21 January 2018

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

21 January 2018

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Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

21 January 2018

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Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis

21 January 2018

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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

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A harmonized classification system for FTLD-TDP pathology

21 January 2018

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Mutations of optineurin in amyotrophic lateral sclerosis

21 January 2018

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Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

21 January 2018

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

21 January 2018

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Familial motor neurone disease with dementia: phenotypic variation and cerebellar pathology

21 January 2018

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The prevalence of frontotemporal dementia

21 January 2018

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

1 reference

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TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia

21 January 2018

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Amyotrophic lateral sclerosis

21 January 2018

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Distinct genetic forms of frontotemporal dementia.

21 January 2018

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Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

21 January 2018

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TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

21 January 2018

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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Phases of A beta-deposition in the human brain and its relevance for the development of AD.

21 January 2018

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Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

21 January 2018

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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

21 January 2018

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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

21 January 2018

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Hereditary frontotemporal dementia caused by Tau gene mutations.

21 January 2018

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Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

21 January 2018

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

21 January 2018

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A general method for the detection of large CAG repeat expansions by fluorescent PCR

21 January 2018

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Cellular toxicity of expanded RNA repeats: focus on RNA foci

21 January 2018

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Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

21 January 2018

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