Genetic counselling in ALS: facts, uncertainties and clinical suggestions

Ethical, Legal, and Counseling Challenges Surrounding the Return of Genetic Results in Oncology

(2013) Martijn P. Lolkema et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

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) Belinda Rahman et al.   Genetic Testing and Molecular Biomarkers

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations

(2012) Adriano Chiò et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

(2012) Susan Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

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

(2012) Ching-Paio Tsai et al.   NEUROBIOLOGY OF AGING

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

(2012) Kotaro Ogaki et al.   NEUROBIOLOGY OF AGING

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

(2012) Jochen H. Weishaupt et al.   NEUROBIOLOGY OF AGING

Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease

(2012) S. Lattante et al.   NEUROLOGY

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

(2012) A. Chio et al.   NEUROLOGY

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

(2012) Marka van Blitterswijk et al.   PLoS One

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

(2012) Jamie C Fong et al.   Alzheimers Research & Therapy

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

Social and ethical implications of BRCA testing

(2011) A. Surbone   ANNALS OF ONCOLOGY

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

(2011) M. F. Hanby et al.   BRAIN

EFNS guidelines on the Clinical Management of Amyotrophic Lateral Sclerosis (MALS) - revised report of an EFNS task force

(2011) et al.   EUROPEAN JOURNAL OF NEUROLOGY

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

(2011) Joanna H Fanos et al.   GENETICS IN MEDICINE

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

(2011) Ammar Al-Chalabi et al.   HUMAN HEREDITY

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

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Primary lateral sclerosis may occur within familial amyotrophic lateral sclerosis pedigrees

(2010) Julien Praline et al.   Amyotrophic Lateral Sclerosis

American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility

(2010) Mark E. Robson et al.   JOURNAL OF CLINICAL ONCOLOGY

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

(2010) A. Felbecker et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Confidentiality and sharing genetic information with relatives

(2010) Anneke Lucassen et al.   LANCET

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

(2010) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

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

(2009)   EUROPEAN JOURNAL OF HUMAN GENETICS

Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

(2009) M. A. van Es et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2008) Pilar Nicolás   CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY