Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum

ALS phenotype is influenced by age, sex, and genetics

(2020) Adriano Chiò et al.   NEUROLOGY

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

(2020) Viviana Pensato et al.   Journal of Clinical Medicine

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Amyotrophic lateral sclerosis: a clinical review

(2020) P. Masrori et al.   EUROPEAN JOURNAL OF NEUROLOGY

The role of ABCA7 in Alzheimer’s disease: evidence from genomics, transcriptomics and methylomics

(2019) Arne De Roeck et al.   ACTA NEUROPATHOLOGICA

C9orf72 intermediate expansions of 24–30 repeats are associated with ALS

(2019) Alfredo Iacoangeli et al.   Acta Neuropathologica Communications

Gene Therapy for ALS—A Perspective

(2019) Marisa Cappella et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden

(2019) Rüstem Yilmaz et al.   NEUROBIOLOGY OF AGING

The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance

(2018) Maria Pia Giannoccaro et al.   JOURNAL OF ALZHEIMERS DISEASE

Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients

(2018) Merit Lamp et al.   NEUROBIOLOGY OF AGING

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing

(2018) Anna Bartoletti-Stella et al.   NEUROBIOLOGY OF AGING

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

(2018) Celeste M. Karch et al.   JAMA Neurology

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

(2018) Angelica D'Amore et al.   Frontiers in Neurology

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

(2017) Maria Pia Giannoccaro et al.   JOURNAL OF 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

Non-Familial ALS: A tangled web

(2017) Carolyn Brown   NATURE

The evolving genetic risk for sporadic ALS

(2017) Summer B. Gibson et al.   NEUROLOGY

Genetic testing in ALS

(2017) Alice Vajda et al.   NEUROLOGY

Genetics of amyotrophic lateral sclerosis

(2017) P. Corcia et al.   REVUE NEUROLOGIQUE

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

(2017) Michael J. Strong et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum

(2017) Hamideh Shahheydari et al.   Frontiers in Molecular Neuroscience

Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians

(2016) Jennifer Roggenbuck et al.   GENETICS IN MEDICINE

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Sporadic and hereditary amyotrophic lateral sclerosis (ALS)

(2015) Senda Ajroud-Driss et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD)

(2015) Serena Lattante et al.   TRENDS IN GENETICS

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis

(2015) Satoshi Yamashita et al.   Translational Neurodegeneration

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

Genome-Wide Analysis of the Heritability of Amyotrophic Lateral Sclerosis

(2014) Margaux F. Keller et al.   JAMA Neurology

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

(2013) A. Chiò et al.   NEUROEPIDEMIOLOGY

Young-onset amyotrophic lateral sclerosis: historical and other observations

(2012) M. R. Turner et al.   BRAIN

On the ‘classification’ of neurodegenerative disorders: discrete entities, overlap or continuum?

(2012) Richard A. Armstrong   FOLIA NEUROPATHOLOGICA

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

(2012) S. Lattante et al.   NEUROLOGY

A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis

(2011) Michela Visani et al.   Amyotrophic Lateral Sclerosis

FTD and ALS: A Tale of Two Diseases

(2011) R. Ferrari et al.   Current Alzheimer Research

Parkinsonism and Frontotemporal Dementia: The Clinical Overlap

(2011) Alberto J. Espay et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

D90A-SOD1 mutation in ALS: The first report of heterozygous Italian patients and unusual findings

(2010) Fabio Giannini et al.   Amyotrophic Lateral Sclerosis

An estimate of amyotrophic lateral sclerosis heritability using twin data

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

Incidence of amyotrophic lateral sclerosis in Europe

(2009) G. Logroscino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis

(2008) Christoph Münch et al.   Amyotrophic Lateral Sclerosis