Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

(2016) Aaron D. Gitler et al.   BRAIN RESEARCH

Analysis of C9orf72 in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Argentina

(2016) Tatiana Itzcovich et al.   NEUROBIOLOGY OF AGING

Ethnic and demographic incidence of amyotrophic lateral sclerosis (ALS) in Brazil: A population based study

(2016) Mirian Conceicao Moura et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Genotype-phenotype correlations of amyotrophic lateral sclerosis

(2016) Hong-Fu Li et al.   Translational Neurodegeneration

Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin

(2015) Benoît Marin et al.   EUROPEAN JOURNAL OF EPIDEMIOLOGY

Atypical familial amyotrophic lateral sclerosis with initial symptoms of pain or tremor in a Chinese family harboring VAPB-P56S mutation

(2015) Li Di et al.   JOURNAL OF NEUROLOGY

ALS biomarkers for therapy development: State of the field and future directions

(2015) Michael Benatar et al.   MUSCLE & NERVE

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

(2015) Pietro Fratta et al.   NEUROBIOLOGY OF AGING

Patterns of Weakness, Classification of Motor Neuron Disease, and Clinical Diagnosis of Sporadic Amyotrophic Lateral Sclerosis

(2015) Jeffrey M. Statland et al.   NEUROLOGIC CLINICS

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Epidemiology and surveillance of amyotrophic lateral sclerosis in two large metropolitan areas in California

(2015) Jhaqueline Valle et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The role of TDP-43 in the pathogenesis of ALS and FTLD: Figure 1

(2015) Marco Baralle et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues

(2014) Ione O. C. Woollacott et al.   ACTA NEUROPATHOLOGICA

Metabolism and mis-metabolism of the neuropathological signature protein TDP-43

(2014) C.-C. Huang et al.   JOURNAL OF CELL SCIENCE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

Genetic architecture of ALS in Sardinia

(2014) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

Amyotrophic Lateral Sclerosis Genetic Studies

(2014) Ji He et al.   NEUROSCIENTIST

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

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

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

(2013) A. Chiò et al.   NEUROEPIDEMIOLOGY

No association between VAPB mutations and familial or sporadic ALS in Sweden, Portugal and Iceland

(2013) Caroline Ingre et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions inC9orf72

(2013) Julie S. Snowden et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

(2012) Heather Stewart et al.   ACTA NEUROPATHOLOGICA

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

(2012) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Analysis of theC9orf72Gene in Patients with Amyotrophic Lateral Sclerosis in Spain and Different Populations Worldwide

(2012) Alberto García-Redondo et al.   HUMAN MUTATION

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

ALS/FTD phenotype in two Sardinian families carrying bothC9ORF72andTARDBPmutations

(2012) Adriano Chiò 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

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

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

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis

(2010) Han-Jou Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2010) S. Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TARDBP(TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations

(2009) R. Del Bo et al.   EUROPEAN JOURNAL OF NEUROLOGY

Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis

(2009) Janine Kirby et al.   NEUROGENETICS

Amyotrophic lateral sclerosis

(2009) Lokesh C Wijesekera et al.   Orphanet Journal of Rare Diseases

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

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

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

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics

Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues

(2007) G Logroscino et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY