Sorting Rare ALS Genetic Variants by Targeted Re-Sequencing Panel in Italian Patients: OPTN, VCP, and SQSTM1 Variants Account for 3% of Rare Genetic Forms

Typical bulbar ALS can be linked to GARS mutation

(2019) P. Corcia et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Diagnostic Challenge and Neuromuscular Junction Contribution to ALS Pathogenesis

(2019) Maria-Letizia Campanari et al.   Frontiers in Neurology

New FIG4 gene mutations causing aggressive ALS

(2018) C. Bertolin et al.   EUROPEAN JOURNAL OF NEUROLOGY

Comprehensive analysis of the mutation spectrum in 301 German ALS families

(2018) Kathrin Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The multistep hypothesis of ALS revisited

(2018) Adriano Chiò et al.   NEUROLOGY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ATXN2 trinucleotide repeat length correlates with risk of ALS

(2017) William Sproviero et al.   NEUROBIOLOGY OF AGING

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

(2017) Ayumi Nishiyama et al.   NEUROBIOLOGY OF AGING

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

(2017) Holly A. Black et al.   NEUROBIOLOGY OF AGING

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

Amyotrophic lateral sclerosis: moving towards a new classification system

(2016) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability

(2015) Thalia Antoniadi et al.   BMC Medical Genetics

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

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

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis

(2015) Sarah Morgan et al.   NEUROBIOLOGY OF AGING

SQSTM1splice site mutation in distal myopathy with rimmed vacuoles

(2015) Robert C. Bucelli et al.   NEUROLOGY

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

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

Genetic heterogeneity of amyotrophic lateral sclerosis: Implications for clinical practice and research

(2014) Xiaowei W. Su et al.   MUSCLE & NERVE

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing

(2013) Kevin P Kenna et al.   JOURNAL OF MEDICAL GENETICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

(2013) M. Hirano et al.   NEUROLOGY

Current insights into the C9orf72 repeat expansion diseases of the FTLD/ALS spectrum

(2013) Marc Cruts et al.   TRENDS IN NEUROSCIENCES

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

(2012) Antonia Ratti et al.   NEUROBIOLOGY OF AGING

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

(2011) Garth Nicholson et al.   BRAIN

Characterization of the Asian myopathy patients with VCP mutations

(2011) Z. Shi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

(2011) R. Del Bo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Senataxin mutations and amyotrophic lateral sclerosis

(2010) Michio Hirano et al.   Amyotrophic Lateral Sclerosis

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

(2010) Véronique V. Belzil et al.   NEUROBIOLOGY OF AGING

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

(2009) L. Corrado et al.   JOURNAL OF MEDICAL GENETICS

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

(2009) N. Ticozzi et al.   NEUROLOGY

Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget’s disease of bone and frontotemporal dementia

(2009) Tanya Stojkovic et al.   NEUROMUSCULAR DISORDERS

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE