Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism (Q35064245)

6 August 2017

title

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism (English)

1 reference

Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].

6 August 2017

main subject

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

corrigendum / erratum

1 reference

10.1016/J.NEUROBIOLAGING.2015.02.027

Crossref

DOI

12 July 2019

http://api.crossref.org/works?select=update-to&filter=doi:10.1016/J.NEUROBIOLAGING.2015.02.027

13

Andrew J Lees

1 reference

Kailash Phatechand Bhatia

6 August 2017

14

object named as

Kailash P Bhatia

1 reference

6 August 2017

11

Mary G Sweeney

1 reference

6 August 2017

9

Janice L Holton

1 reference

6 August 2017

author name string

Lucia V Schottlaender

1

1 reference

6 August 2017

James M Polke

2

1 reference

6 August 2017

Helen Ling

3

1 reference

6 August 2017

Nicola D MacDoanld

4

1 reference

6 August 2017

Arianna Tucci

5

1 reference

6 August 2017

Tina Nanji

6

1 reference

6 August 2017

Alan Pittman

7

1 reference

6 August 2017

Rohan de Silva

8

1 reference

6 August 2017

Tamas Revesz

10

1 reference

6 August 2017

Andy B Singleton

12

1 reference

6 August 2017

Henry Houlden

15

1 reference

6 August 2017

publication date

27 August 2014

1 reference

6 August 2017

published in

Neurobiology of Aging

1 reference

6 August 2017

volume

36

1 reference

6 August 2017

issue

2

1 reference

6 August 2017

page(s)

1221.e1-6

1 reference

Absence of C9ORF72 expanded or intermediate repeats in autopsy-confirmed Parkinson's disease

6 August 2017

cites work

1 reference

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C9orf72 repeat expansions are restricted to the ALS-FTD spectrum

8 July 2018

1 reference

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Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration

8 July 2018

1 reference

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C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

8 July 2018

1 reference

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Frontotemporal lobar degeneration and amyotrophic lateral sclerosis: molecular similarities and differences

8 July 2018

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C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

8 July 2018

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C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

8 July 2018

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Mutations in COQ2 in familial and sporadic multiple-system atrophy

8 July 2018

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C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

8 July 2018

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

8 July 2018

1 reference

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Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant

8 July 2018

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Criteria for the diagnosis of corticobasal degeneration

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Investigation of c9orf72 in 4 neurodegenerative disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Screening for C9ORF72 repeat expansion in FTLD.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Repeat expansion in C9ORF72 in Alzheimer's disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

The neuropathology, pathophysiology and genetics of multiple system atrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Chromosome 9 ALS and FTD locus is probably derived from a single founder

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Corticobasal degeneration: a pathologically distinct 4R tauopathy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Does corticobasal degeneration exist? A clinicopathological re-evaluation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy

8 July 2018

1 reference

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SNCA variants are associated with increased risk for multiple system atrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Glucocerebrosidase mutations in 108 neuropathologically confirmed cases of multiple system atrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Second consensus statement on the diagnosis of multiple system atrophy

8 July 2018

1 reference

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Aggregation of neurodegenerative disease in ALS kindreds

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Mutant COQ2 in multiple-system atrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Double trouble? Progranulin mutation and C9ORF72 repeat expansion in a case of primary non-fluent aphasia.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Aggregation of neurologic and neuropsychiatric disease in amyotrophic lateral sclerosis kindreds: a population-based case-control cohort study of familial and sporadic amyotrophic lateral sclerosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Psychosis, C9ORF72 and dementia with Lewy bodies

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

C9orf72 repeat expansions in patients with ALS and FTD.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

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

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Reply to: SNCA variants are associated with increased risk of multiple system atrophy

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4321829

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25308964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25308964

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2014.08.024

1 reference

6 August 2017

1 reference

6 August 2017

1 reference