C9ORF72 repeat expansions in cases with previously identified pathogenic mutations (Q37251674)

19 August 2017

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations (English)

1 reference

19 August 2017

41

1 reference

19 August 2017

Marka van Blitterswijk

1

Mariely DeJesus-Hernandez

Marka van Blitterswijk

0 references

3

Mariely DeJesus-Hernandez

0 references

Elizabeth Finger

Elizabeth Finger

6

0 references

Kevin F. Bieniek

Kevin F Bieniek

15

0 references

Melissa E. Murray

Melissa E Murray

9

0 references

Luisa Benussi

Luisa Benussi

5

0 references

Roberta Ghidoni

Roberta Ghidoni

4

0 references

Michael J Strong

Michael J Strong

22

0 references

Charles L White

Charles L White

28

0 references

Leonard Petrucelli

35

Leonard Petrucelli

1 reference

19 August 2017

36

Zbigniew K Wszolek

1 reference

19 August 2017

42

Rosa Rademakers

1 reference

19 August 2017

32

Ronald C Petersen

1 reference

19 August 2017

34

Bruce L Miller

1 reference

19 August 2017

23

Thomas G Beach

1 reference

19 August 2017

24

David S Knopman

1 reference

19 August 2017

40

Bradley F Boeve

1 reference

19 August 2017

25

Edward D Huey

1 reference

19 August 2017

Neill R Graff-Radford

38

Neill R Graff-Radford

1 reference

19 August 2017

7

Ging-Yuek R Hsiung

1 reference

19 August 2017

37

Kevin B Boylan

1 reference

19 August 2017

17

Anna Karydas

1 reference

19 August 2017

19

Giovanni Coppola

1 reference

19 August 2017

8

Brendan J Kelley

1 reference

19 August 2017

21

Carol Lippa

1 reference

19 August 2017

20

Eileen H Bigio

1 reference

19 August 2017

33

Giuliano Binetti

1 reference

19 August 2017

Vivianna M Van Deerlin

31

Vivianna M Van Deerlin

1 reference

19 August 2017

13

Bianca Mullen

1 reference

19 August 2017

26

Marsel Mesulam

1 reference

19 August 2017

16

Kimmo J Hatanpaa

1 reference

19 August 2017

Elisabeth McCarty Wood

18

Elisabeth McCarty Wood

1 reference

19 August 2017

30

Dan H Geschwind

1 reference

19 August 2017

Matthew C Baker

2

1 reference

19 August 2017

Nicola J Rutherford

10

1 reference

19 August 2017

Patricia E Brown

11

1 reference

19 August 2017

Thomas Ravenscroft

12

1 reference

19 August 2017

Peter E A Ash

14

1 reference

19 August 2017

Thomas Bird

27

1 reference

19 August 2017

Andrew Kertesz

29

1 reference

19 August 2017

Ian R Mackenzie

39

1 reference

19 August 2017

language of work or name

English

0 references

publication date

11 September 2013

1 reference

19 August 2017

1 reference

19 August 2017

81

1 reference

19 August 2017

15

1 reference

19 August 2017

1332-1341

1 reference

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

C9orf72 repeat expansions are a rare genetic cause of parkinsonism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

The genetics and neuropathology of frontotemporal lobar degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Genetics of dementia: update and guidelines for the clinician

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Advances in understanding the molecular basis of frontotemporal dementia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Screening for C9ORF72 repeat expansion in FTLD.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

A harmonized classification system for FTLD-TDP pathology

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

Investigation of C9orf72 repeat expansions in Parkinson's disease

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

No GGGGCC-hexanucleotide repeat expansion in C9ORF72 in parkinsonism patients in Sweden

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3806926

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

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24027057

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0B013E3182A8250C

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

24027057

1 reference