Systematic evaluation of genetic mutations in ALS: a population-based study

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

(2021) Stephanie R Shepheard et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

(2021) Ruth Chia et al.   NATURE GENETICS

The NGS technology for the identification of genes associated with the ALS. A systematic review

(2020) Valentina Pecoraro et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

(2020) Emily P McCann et al.   JOURNAL OF MEDICAL GENETICS

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

(2020) Maurizio Grassano et al.   NEUROLOGY

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

(2020) Ramita Dewan et al.   NEURON

ExpansionHunter: A sequence-graph based tool to analyze variation in short tandem repeat regions

(2019) Egor Dolzhenko et al.   BIOINFORMATICS

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Referral bias in ALS epidemiological studies

(2018) Giancarlo Logroscino et al.   PLoS One

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Age-related penetrance of the C9orf72 repeat expansion

(2017) Natalie A. Murphy et al.   Scientific Reports

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY