Genetic counselling in ALS: facts, uncertainties and clinical suggestions (Q38119935)

29 August 2017

title

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

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amyotrophic lateral sclerosis

29 August 2017

main subject

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Jessica Mandrioli

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Stefania Battistini

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Claudia Caponnetto

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Francesca Luisa Conforti

Francesca L Conforti

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Silvana Penco

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Andrea Calvo

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Mario Sabatelli

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Gabriele Mora

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29 August 2017

Adriano Chiò

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29 August 2017

Gabriella Restagno

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29 August 2017

Massimo Corbo

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29 August 2017

Fabio Giannini

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29 August 2017

ITALSGEN Consortium

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29 August 2017

Clara Ajmone

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29 August 2017

Enza Mastro

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29 August 2017

Debora Pain

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29 August 2017

Paola Mandich

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29 August 2017

Marcella Zollino

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29 August 2017

Antonella Surbone

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29 August 2017

language of work or name

English

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publication date

6 July 2013

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Journal of Neurology, Neurosurgery and Psychiatry

29 August 2017

published in

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29 August 2017

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29 August 2017

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29 August 2017

page(s)

478-485

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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

cites work

1 reference

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21 January 2018

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

21 January 2018

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Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

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

21 January 2018

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

21 January 2018

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Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

21 January 2018

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The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

21 January 2018

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An estimate of amyotrophic lateral sclerosis heritability using twin data.

21 January 2018

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

21 January 2018

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Genetic overlap between apparently sporadic motor neuron diseases

21 January 2018

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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

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

21 January 2018

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

21 January 2018

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Confidentiality and sharing genetic information with relatives

21 January 2018

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

21 January 2018

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Social and ethical implications of BRCA testing

21 January 2018

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

21 January 2018

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Genetic nondiscrimination.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Genetic testing for children and adolescents. Who decides?

21 January 2018

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

21 January 2018

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Proposed criteria for familial amyotrophic lateral sclerosis

21 January 2018

1 reference

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?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

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29 August 2017

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