Investigation of c9orf72 in 4 neurodegenerative disorders (Q37734768)

22 August 2017

Investigation of c9orf72 in 4 neurodegenerative disorders (English)

1 reference

22 August 2017

1 reference

Mahdi Ghani

7

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Jordi Clarimón

Jordi Clarimón

32

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Daniela Galimberti

Daniela Galimberti

Peter Henry St George-Hyslop

20

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Peter St George-Hyslop

35

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Sandra Black

Sandra E Black

25

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Anthony Lang

Anthony E Lang

12

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Karen E Morrison

Karen E Morrison

21

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Richard Mayeux

33

Richard Mayeux

1 reference

22 August 2017

36

Ekaterina Rogaeva

1 reference

Connie Fernández-Cid Marras

22 August 2017

13

Connie Marras

1 reference

22 August 2017

26

Lili-Naz Hazrati

1 reference

22 August 2017

4

Danielle Moreno

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22 August 2017

5

Christine Sato

1 reference

22 August 2017

24

Mario Masellis

1 reference

22 August 2017

2

Lorne Zinman

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22 August 2017

10

Mercè Boada

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22 August 2017

14

Amalia Bruni

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22 August 2017

18

Innocenzo Rainero

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22 August 2017

19

Lorenzo Pinessi

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22 August 2017

34

Janice Robertson

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22 August 2017

15

Rosanna Colao

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22 August 2017

17

Gianfranco Puccio

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22 August 2017

16

Raffaele G Maletta

1 reference

22 August 2017

Zhengrui Xi

1

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22 August 2017

Yakov Grinberg

3

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22 August 2017

Juan M Bilbao

6

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22 August 2017

Isabel Hernández

8

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22 August 2017

Agustín Ruiz

9

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22 August 2017

Francisco J Morón

11

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22 August 2017

Catriona Moorby

22

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22 August 2017

Joanne D Stockton

23

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22 August 2017

Yan Liang

27

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22 August 2017

Jan van Haersma de With

28

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22 August 2017

Luis Fornazzari

29

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22 August 2017

Roque Villagra

30

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22 August 2017

Ricardo Rojas-Garcia

31

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22 August 2017

1 December 2012

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22 August 2017

Archives of Neurology

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22 August 2017

69

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22 August 2017

12

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22 August 2017

1583-1590

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Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Repeat expansion in C9ORF72 in Alzheimer's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Neurobehavioral differences between Alzheimer's disease and frontotemporal dementia: a meta-analysis.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

A review of fragile X premutation disorders: expanding the psychiatric perspective

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Neuropathological aspects of Alzheimer disease, Parkinson disease and frontotemporal dementia

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Interaction between pathogenic proteins in neurodegenerative disorders

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

22 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Frontotemporal dementia and Parkinsonism linked to chromosome 17: a new group of tauopathies.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Expanded clinical phenotype of women with the FMR1 premutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

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

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

LRRK2 gene in Parkinson disease: Mutation analysis and case control association study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

The effects of APOE and tau gene variability on risk of frontotemporal dementia

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4005900

Clinical and neuropathological criteria for frontotemporal dementia. The Lund and Manchester Groups

3 December 2018

1 reference

12 December 2020

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

1 reference

12 December 2020

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

1 reference

12 December 2020

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

1 reference

12 December 2020

A Genome-Wide DNA Microsatellite Association Screen to Identify Chromosomal Regions Harboring Candidate Genes in Diabetic Nephropathy

1 reference

12 December 2020

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

12 December 2020

10.1001/ARCHNEUROL.2012.2016

Identifiers

DOI

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22 August 2017

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22 August 2017

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