C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population (Q36024669)

11 August 2017

C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population (English)

1 reference

amyotrophic lateral sclerosis

11 August 2017

0 references

1 reference

Rossella Spataro

22

0 references

Alan Renton

Alan E Renton

29

0 references

Cristina Moglia

Cristina Moglia

39

0 references

Paola Mandich

Paola Mandich

26

0 references

Jessica Mandrioli

Jessica Mandrioli

28

0 references

Stefania Battistini

Stefania Battistini

11

0 references

Claudia Caponnetto

Claudia Caponnetto

24

0 references

Silvana Penco

Silvana Penco

12

0 references

Carmelo Rodolico

Carmelo Rodolico

37

0 references

Isabella Laura Simone

Isabella Simone

17

0 references

Andrea Calvo

Andrea Calvo

40

0 references

Mario Sabatelli

Mario Sabatelli

1

0 references

Gianluigi Mancardi

Gianluigi Mancardi

25

0 references

Maria Giovanna Marrosu

Maria Giovanna Marrosu

33

0 references

Aldo Quattrone

Aldo Quattrone

14

0 references

Maura Pugliatti

36

Maura Pugliatti

1 reference

11 August 2017

13

Christian Lunetta

1 reference

11 August 2017

4

Gabriele Mora

1 reference

11 August 2017

46

Adriano Chiò

1 reference

11 August 2017

16

Giancarlo Logroscino

1 reference

11 August 2017

45

Gabriella Restagno

1 reference

11 August 2017

Maria Rosaria Monsurrò

5

Maria Rosaria Monsurrò

1 reference

11 August 2017

42

Maura Brunetti

1 reference

11 August 2017

44

Giuseppe Borghero

1 reference

11 August 2017

43

Bryan J Traynor

1 reference

11 August 2017

20

Gioacchino Tedeschi

1 reference

11 August 2017

27

Patrizia Sola

1 reference

11 August 2017

Francesca Luisa Conforti

2

1 reference

11 August 2017

Marcella Zollino

3

1 reference

11 August 2017

Paolo Volanti

6

1 reference

11 August 2017

Kalliopi Marinou

7

1 reference

11 August 2017

Fabrizio Salvi

8

1 reference

11 August 2017

Massimo Corbo

9

1 reference

11 August 2017

Fabio Giannini

10

1 reference

11 August 2017

Antonio Gambardella

15

1 reference

11 August 2017

Ilaria Bartolomei

18

1 reference

11 August 2017

Fabrizio Pisano

19

1 reference

11 August 2017

Amelia Conte

21

1 reference

11 August 2017

Vincenzo La Bella

23

1 reference

11 August 2017

Elisa Majounie

30

1 reference

11 August 2017

Yevgeniya Abramzon

31

1 reference

11 August 2017

Francesco Marrosu

32

1 reference

11 August 2017

Maria Rita Murru

34

1 reference

11 August 2017

Maria Alessandra Sotgiu

35

1 reference

11 August 2017

ITALSGEN Consortium

38

1 reference

11 August 2017

Irene Ossola

41

1 reference

11 August 2017

13 March 2012

1 reference

11 August 2017

Neurobiology of Aging

1 reference

11 August 2017

33

1 reference

11 August 2017

8

1 reference

11 August 2017

1848.e15-20

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Exome sequencing reveals VCP mutations as a cause of familial ALS

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Mutations of optineurin in amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

FUS mutations in sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Trinucleotide Repeat Disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Executive dysfunction is a negative prognostic indicator in patients with ALS without dementia

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Proposed criteria for familial amyotrophic lateral sclerosis

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3372681

Prevalence of SOD1 mutations in the Italian ALS population

5 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22418734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22418734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2012.02.011

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22418734

1 reference