Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. (Q35776914)

10 August 2017

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. (English)

1 reference

amyotrophic lateral sclerosis

10 August 2017

0 references

Joanna Bury

14

0 references

Johnathan Cooper-Knock

Johnathan Cooper-Knock

1

0 references

Kin Y Mok

Kin Mok

15

0 references

Janine Kirby

Janine Kirby

18

0 references

Pamela Shaw

Pamela J Shaw

22

0 references

John Anthony Hardy

21

John Hardy

1 reference

10 August 2017

17

Bryan J Traynor

1 reference

10 August 2017

Christopher Hewitt

2

1 reference

10 August 2017

J Robin Highley

3

1 reference

10 August 2017

Alice Brockington

4

1 reference

10 August 2017

Antonio Milano

5

1 reference

10 August 2017

Somai Man

6

1 reference

10 August 2017

Joanne Martindale

7

1 reference

10 August 2017

Judith Hartley

8

1 reference

10 August 2017

Theresa Walsh

9

1 reference

10 August 2017

Catherine Gelsthorpe

10

1 reference

10 August 2017

Lynne Baxter

11

1 reference

10 August 2017

Gillian Forster

12

1 reference

10 August 2017

Melanie Fox

13

1 reference

10 August 2017

Christopher J McDermott

16

1 reference

10 August 2017

Stephen B Wharton

19

1 reference

10 August 2017

Paul G Ince

20

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 March 2012

1 reference

10 August 2017

1 reference

10 August 2017

135

1 reference

10 August 2017

Pt 3

1 reference

10 August 2017

751-764

1 reference

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

A harmonized classification system for FTLD-TDP pathology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Genetics of familial Amyotrophic lateral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Exome sequencing reveals VCP mutations as a cause of familial ALS

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Mutations of optineurin in amyotrophic lateral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

RNA-mediated neurodegeneration in repeat expansion disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Clinical and pathological continuum of multisystem TDP-43 proteinopathies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Optineurin coding variants in Ghanaian patients with primary open-angle glaucoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Familial risks for amyotrophic lateral sclerosis and autoimmune diseases

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Cognitive impairment in amyotrophic lateral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Characterization and functional implications of the RNA binding properties of nuclear factor TDP-43, a novel splicing regulator of CFTR exon 9

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Epidemiological surveillance of amyotrophic lateral sclerosis and parkinsonism-dementia in the Commonwealth of the Northern Mariana Islands

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

The concurrence of multiple sclerosis and amyotrophic lateral sclerosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Family history of neurodegenerative and vascular diseases in ALS: a population-based study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Progression of hippocampal degeneration in amyotrophic lateral sclerosis with or without memory impairment: distinction from Alzheimer disease.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Ubiquitin immunohistochemistry suggests classic motor neuron disease, motor neuron disease with dementia, and frontotemporal dementia of the motor neuron disease type represent a clinicopathologic spectrum.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Amyotrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of five new cases, and comparison with previous reports and 73 sporadic cases of ALS.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3286332

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366792

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Neuronal intranuclear inclusions distinguish familial FTD-MND type from sporadic cases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366792

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22366792

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/BRAIN/AWR365

1 reference

10 August 2017

1 reference

10 August 2017

1 reference