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

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

Large Proportion of Amyotrophic Lateral Sclerosis Cases in Sardinia Due to a Single Founder Mutation of the TARDBP Gene

(2011) Adriano Chiò   ARCHIVES OF NEUROLOGY

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

(2011) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

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

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

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

(2011) T. Lee et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 repeat-length variation and neurodegeneration

(2011) O. A. Ross et al.   HUMAN MOLECULAR GENETICS

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

(2011) Sara Rollinson et al.   NEUROBIOLOGY OF AGING

Screening of OPTN in French familial amyotrophic lateral sclerosis

(2011) Stéphanie Millecamps et al.   NEUROBIOLOGY OF AGING

Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson’s disease in Sardinia

(2011) Marialuisa Quadri et al.   NEUROGENETICS

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2

(2011) P. Van Damme et al.   NEUROLOGY

An unusual case of familial ALS and cerebellar ataxia

(2010) Sadia Yasser et al.   Amyotrophic Lateral Sclerosis

CADASIL and ALS: A link?

(2010) Julien Praline et al.   Amyotrophic Lateral Sclerosis

Huntington's disease presenting as amyotrophic lateral sclerosis

(2010) Julie Phukan et al.   Amyotrophic Lateral Sclerosis

Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

(2010) Paola Origone et al.   Amyotrophic Lateral Sclerosis

A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling

(2010) Terrell Brotherton et al.   Amyotrophic Lateral Sclerosis

Senataxin mutations and amyotrophic lateral sclerosis

(2010) Michio Hirano et al.   Amyotrophic Lateral Sclerosis

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

(2010) Agnes A. Luty et al.   ANNALS OF NEUROLOGY

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

(2010) A. Orlacchio et al.   BRAIN

The p.P56S mutation in theVAPBgene is not due to a single founder: the first European case

(2010) AD Funke et al.   CLINICAL GENETICS

A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis

(2010) Anna Birve et al.   HUMAN MOLECULAR GENETICS

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

(2010) Mariely DeJesus-Hernandez et al.   HUMAN MUTATION

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

The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families

(2010) Malessa Rabe et al.   JOURNAL OF NEUROLOGY

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

(2010) Justin P. Pearson et al.   JOURNAL OF NEUROLOGY

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

(2010) A. L. Boxer 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

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

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

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

(2010) Hannu Laaksovirta et al.   LANCET NEUROLOGY

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

(2010) Aleksey Shatunov et al.   LANCET NEUROLOGY

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS

(2010) Ching-Paio Tsai et al.   NEUROBIOLOGY OF AGING

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

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

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

(2010) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

(2009) Michael A. Gitcho et al.   ACTA NEUROPATHOLOGICA

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

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

A Mutation that Creates a Pseudoexon inSOD1Causes Familial ALS

(2009) Paul N. Valdmanis et al.   ANNALS OF HUMAN GENETICS

Familial aggregation of amyotrophic lateral sclerosis

(2009) Fang Fang et al.   ANNALS OF NEUROLOGY

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

(2009) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

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

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

(2009) Erika Driver-Dunckley et al.   MOVEMENT DISORDERS

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

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

(2009) Janine Kirby et al.   NEUROGENETICS

A CASE OF ALS-FTD IN A LARGE FALS PEDIGREE WITH A K17I ANG MUTATION

(2009) M. A. van Es et al.   NEUROLOGY

A mechanism for low penetrance in an ALS family with a novel SOD1 deletion

(2009) L. Zinman et al.   NEUROLOGY

Age and founder effect of SOD1 A4V mutation causing ALS

(2009) M. Saeed et al.   NEUROLOGY

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

(2009) N. Ticozzi et al.   NEUROLOGY

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management

(2008) Andrew Eisen et al.   Amyotrophic Lateral Sclerosis

ALSOD: The Amyotrophic Lateral Sclerosis Online Database

(2008) Richard Wroe et al.   Amyotrophic Lateral Sclerosis

Aggregation of neurodegenerative disease in ALS kindreds

(2008) Brooks A. Fallis et al.   Amyotrophic Lateral Sclerosis

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

Two German Kindreds With Familial Amyotrophic Lateral Sclerosis Due to TARDBP Mutations

(2008) Peter Kühnlein et al.   ARCHIVES OF NEUROLOGY

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

(2008) Claire L. Simpson et al.   HUMAN MOLECULAR GENETICS

Association of APOE with age at onset of sporadic amyotrophic lateral sclerosis

(2008) Henrik Zetterberg et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS

(2008) J. E. Landers et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

SOD1A4V-mediated ALS: Absence of a closely linked modifier gene and origination in Asia

(2007) W.J. Broom et al.   NEUROSCIENCE LETTERS