(Q21195686)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

8 February 2020

main subject

1 reference

3

Jill S Goldman

Jill S

Goldman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Jamie C Fong

1

Jamie C

Fong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Anna M Karydas

series ordinal

2

author given names

Anna M

author last names

Karydas

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

language of work or name

English

0 references

publication date

19 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

Alzheimers Research & Therapy

8 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

volume

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

page(s)

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

8 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Classification of primary progressive aphasia and its variants

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Comparison of family histories in FTLD subtypes and related tauopathies

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Mutations of optineurin in amyotrophic lateral sclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Clinical diagnosis and management of amyotrophic lateral sclerosis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Phenotypic signatures of genetic frontotemporal dementia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Ethical, legal, and social implications of genomic medicine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Epidemiology and genetics of frontotemporal dementia/Pick's disease.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Are amyotrophic lateral sclerosis patients cognitively normal?

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Genetic testing: psychological aspects and implications

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Inheritance of frontotemporal dementia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

30 May 2018

1 reference

Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

21 January 2018

1 reference

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

1 reference

C9orf72 repeat expansions in patients with ALS and FTD.

21 January 2018

1 reference

Life insurance and breast cancer risk assessment: Adverse selection, genetic testing decisions, and discrimination

21 January 2018

1 reference

Predictive testing for Huntington disease: a psychologist's view

21 January 2018

1 reference

Exploration of the effects of predictive testing for Huntington disease on intimate relationships

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic discrimination--an overblown fear?

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506941

Keeping Pace with the Times — The Genetic Information Nondiscrimination Act of 2008

29 November 2018

1 reference

12 December 2020

Impact on couple relationships of predictive testing for Huntington disease: a longitudinal study

1 reference

12 December 2020

Disclosures of Huntington disease risk within families: patterns of decision-making and implications

1 reference

12 December 2020

Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea

1 reference

12 December 2020

Identifiers

DOI

10.1186/ALZRT130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 February 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/alzrt130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22808918%20AND%20SRC:MED&resulttype=core&format=json