Genetic counselling in ALS: facts, uncertainties and clinical suggestions
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A. Chiò | G. Mora | A. Calvo | F. Conforti | P. Mandich | F. Giannini | J. Mandrioli | M. Corbo | G. Restagno | S. Battistini | C. Caponnetto | M. Sabatelli | S. Penco | M. Zollino | A. Surbone | D. Pain | C. Ajmone | E. Mastro | Enza Mastro
[1] A. Lippman,et al. Prenatal Genetic Testing and Screening: Constructing Needs and Reinforcing Inequities , 2020, American Journal of Law & Medicine.
[2] Jonathan S Berg,et al. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. , 2015, American journal of human genetics.
[3] Megan Allyse,et al. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. , 2013, Trends in biotechnology.
[4] Marc S. Williams,et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.
[5] A. Pestronk,et al. An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study , 2013, The Lancet Neurology.
[6] P. Andersen,et al. A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany , 2013, Neurobiology of Aging.
[7] E. Cuppen,et al. Ethical, legal, and counseling challenges surrounding the return of genetic results in oncology. , 2013, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[8] Eric D Green,et al. The Complexities of Genomic Identifiability , 2013, Science.
[9] L. H. van den Berg,et al. Genetic Overlap between Apparently Sporadic Motor Neuron Diseases , 2012, PloS one.
[10] N. Atsuta,et al. Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis , 2012, Neurobiology of Aging.
[11] Leonard H van den Berg,et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. , 2012, Human molecular genetics.
[12] P. Tsai,et al. A hexanucleotide repeat expansion in C9ORF72 causes familial and sporadic ALS in Taiwan , 2012, Neurobiology of Aging.
[13] P. Sachdev,et al. To know or not to know: an update of the literature on the psychological and behavioral impact of genetic testing for Alzheimer disease risk. , 2012, Genetic testing and molecular biomarkers.
[14] A. Karydas,et al. Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion , 2012, Alzheimer's Research & Therapy.
[15] P. Rossini,et al. Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation , 2012, Journal of Neurology, Neurosurgery & Psychiatry.
[16] P. Rossini,et al. Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease , 2012, Neurology.
[17] P. Tacconi,et al. ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations , 2012, Journal of Neurology, Neurosurgery & Psychiatry.
[18] V. Meininger,et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes , 2012, Journal of Medical Genetics.
[19] Janel O. Johnson,et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study , 2012, The Lancet Neurology.
[20] O. Hardiman,et al. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases , 2012, Journal of Neurology, Neurosurgery & Psychiatry.
[21] P. Andersen,et al. EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) – revised report of an EFNS task force , 2012, European journal of neurology.
[22] A. Chiò,et al. Identifying potential risk factors for developing amyotrophic lateral sclerosis , 2011 .
[23] D. Geschwind,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[24] Ammar Al-Chalabi,et al. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? , 2011, Nature Reviews Neurology.
[25] A. Al-Chalabi,et al. The risk to relatives of patients with sporadic amyotrophic lateral sclerosis , 2011, Brain : a journal of neurology.
[26] C. Lewis,et al. Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease , 2011, Human Heredity.
[27] O. Hardiman,et al. Proposed criteria for familial amyotrophic lateral sclerosis , 2011, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[28] P. Andersen,et al. Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis , 2011, Genetics in Medicine.
[29] A. Chiò,et al. A de novo missense mutation of the FUS gene in a “true” sporadic ALS case , 2011, Neurobiology of Aging.
[30] A. Al-Chalabi,et al. An estimate of amyotrophic lateral sclerosis heritability using twin data , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[31] P. Andersen,et al. Four familial ALS pedigrees discordant for two SOD1 mutations: are all SOD1 mutations pathogenic? , 2010, Journal of Neurology, Neurosurgery & Psychiatry.
[32] M. Parker,et al. Confidentiality and sharing genetic information with relatives , 2010, The Lancet.
[33] P. Vourc'h,et al. Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees , 2010, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.
[34] P. Andersen,et al. Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis , 2009, Journal of Neurology, Neurosurgery & Psychiatry.
[35] D. Keefe,et al. Decisions and ethical issues among BRCA carriers and the use of preimplantation genetic diagnosis. , 2009, Minerva medica.
[36] P. Borry. Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics , 2009, European Journal of Human Genetics.
[37] Pilar Nicolàs. Ethical and juridical issues of genetic testing: a review of the international regulation. , 2009, Critical reviews in oncology/hematology.
[38] Roy Gilbar. Communicating genetic information in the family: the familial relationship as the forgotten factor , 2007, Journal of Medical Ethics.
[39] P. Baird,et al. Genetic testing for hereditary cancers: the impact of gender on interest, uptake and ethical considerations. , 2006, Critical reviews in oncology/hematology.
[40] R. Rhodes. Genetic testing: is there a right not to know? , 2006, MCN. The American journal of maternal child nursing.
[41] K. Offit,et al. The "duty to warn" a patient's family members about hereditary disease risks. , 2004, JAMA.
[42] Adopted on March. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. , 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[43] Orla Hardiman,et al. “True” sporadic ALS associated with a novel SOD‐1 mutation , 2002, Annals of neurology.
[44] J. Karlawish,et al. Current state of research on decision-making competence of cognitively impaired elderly persons. , 2002, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.
[45] W Burke,et al. Categorizing genetic tests to identify their ethical, legal, and social implications. , 2001, American journal of medical genetics.
[46] M. Kapp. PHYSICIANS' LEGAL DUTIES REGARDING THE USE OF GENETIC TESTS TO PREDICT AND DIAGNOSE ALZHEIMER DISEASE , 2000, The Journal of legal medicine.
[47] B. Bernhardt,et al. What would you do? Specialists' perspectives on cancer genetic testing, prophylactic surgery, and insurance discrimination. , 2000, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[48] M. Swash,et al. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis , 2000, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.
[49] M. Burgess,et al. Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era , 1998 .
[50] M. Rothstein,et al. Book Reviews-Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era , 1998 .
[51] J. E. Nash,et al. A model protocol for evaluating the behavioral and psychosocial effects of BRCA1 testing. , 1996, Journal of the National Cancer Institute.
[52] R. Lebel. Genetic testing for children and adolescents. , 1995, JAMA.
[53] P. Reilly,et al. Genetic testing for children and adolescents. Who decides? , 1994, JAMA.
[54] M. Wein. Duty to warn. , 1989, JAMA.
[55] M. Shaw. Testing for the Huntington gene: a right to know, a right not to know, or a duty to know. , 1987, American journal of medical genetics.
[56] R. Gross. Extensive genetics of ALS: A population-based study in Italy , 2012 .
[57] A. Surbone. Social and ethical implications of BRCA testing. , 2011, Annals of oncology : official journal of the European Society for Medical Oncology.
[58] K. Offit,et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. , 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.
[59] P. Andersen. Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene , 2006, Current neurology and neuroscience reports.
[60] R. Zinberg. Genetic testing: is there a right not to know? , 2006, MCN. The American journal of maternal child nursing.
[61] P. Billings. Genetic nondiscrimination , 2005, Nature Genetics.
[62] R. Rhodes. Genetic links, family ties, and social bonds: rights and responsibilities in the face of genetic knowledge. , 1998, The Journal of medicine and philosophy.
[63] B. Burke. Genetic testing for children and adolescents. , 1995, JAMA.
[64] M R Natowicz,et al. Discrimination as a consequence of genetic testing. , 1992, American journal of human genetics.