(Q38119935)

29 August 2017

Genetic counselling in ALS: facts, uncertainties and clinical suggestions (English)

1 reference

amyotrophic lateral sclerosis

29 August 2017

1 reference

Jessica Mandrioli

8

0 references

Stefania Battistini

Stefania Battistini

2

0 references

Claudia Caponnetto

Claudia Caponnetto

4

0 references

Francesca Luisa Conforti

Francesca L Conforti

5

0 references

Silvana Penco

Silvana Penco

16

0 references

Andrea Calvo

Andrea Calvo

3

0 references

Mario Sabatelli

Mario Sabatelli

10

0 references

Gabriele Mora

9

Gabriele Mora

1 reference

29 August 2017

1

Adriano Chiò

1 reference

29 August 2017

17

Gabriella Restagno

1 reference

29 August 2017

Massimo Corbo

6

1 reference

29 August 2017

Fabio Giannini

7

1 reference

29 August 2017

ITALSGEN Consortium

11

1 reference

29 August 2017

Clara Ajmone

12

1 reference

29 August 2017

Enza Mastro

13

1 reference

29 August 2017

Debora Pain

14

1 reference

29 August 2017

Paola Mandich

15

1 reference

29 August 2017

Marcella Zollino

18

1 reference

29 August 2017

Antonella Surbone

19

1 reference

29 August 2017

language of work or name

English

0 references

publication date

6 July 2013

1 reference

Journal of Neurology, Neurosurgery and Psychiatry

29 August 2017

1 reference

29 August 2017

85

1 reference

29 August 2017

5

1 reference

29 August 2017

478-485

1 reference

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

29 August 2017

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Extensive genetics of ALS: a population-based study in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Modelling the effects of penetrance and family size on rates of sporadic and familial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

An estimate of amyotrophic lateral sclerosis heritability using twin data.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Genetic overlap between apparently sporadic motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

To know or not to know: an update of the literature on the psychological and behavioral impact of genetic testing for Alzheimer disease risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Genetic testing for hereditary cancers: the impact of gender on interest, uptake and ethical considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Confidentiality and sharing genetic information with relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Communicating genetic information in the family: the familial relationship as the forgotten factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Social and ethical implications of BRCA testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Genetic nondiscrimination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Ethical and juridical issues of genetic testing: a review of the international regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Categorizing genetic tests to identify their ethical, legal, and social implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Genetic links, family ties, and social bonds: rights and responsibilities in the face of genetic knowledge.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Testing for the Huntington gene: a right to know, a right not to know, or a duty to know

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Genetic testing for children and adolescents. Who decides?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Physicians' legal duties regarding the use of genetic tests to predict and diagnose Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Proposed criteria for familial amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

?True? sporadic ALS associated with a novel SOD-1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJNNP-2013-305546

21 January 2018

Identifiers

DOI

10.1136/JNNP-2013-305546

1 reference

29 August 2017

1 reference