Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

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

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72

(2012) A. Chio et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

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

Screening of the FUS gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

(2012) Z.-Y. Zou et al.   EUROPEAN JOURNAL OF NEUROLOGY

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

(2012) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

(2012) Amelia Conte et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

(2012) Susan Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

(2012) Susan Byrne et al.   LANCET NEUROLOGY

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

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients

(2012) Kin Y. Mok et al.   NEUROBIOLOGY OF AGING

Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin

(2012) Zhang-Yu Zou et al.   NEUROBIOLOGY OF AGING

ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling

(2012) Cinzia Gellera et al.   NEUROBIOLOGY OF AGING

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

(2012) Kotaro Ogaki et al.   NEUROBIOLOGY OF AGING

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

(2012) Antonia Ratti et al.   NEUROBIOLOGY OF AGING

Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS

(2012) Min-Jung Kwon et al.   NEUROBIOLOGY OF AGING

Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients

(2012) Afagh Alavi et al.   NEUROBIOLOGY OF AGING

Analysis of the C9orf72 hexanucleotide repeat expansion in Korean patients with familial and sporadic amyotrophic lateral sclerosis

(2012) Ja-Hyun Jang et al.   NEUROBIOLOGY OF AGING

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

(2012) S. Lattante et al.   NEUROLOGY

Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases

(2012) W. van Rheenen et al.   NEUROLOGY

Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

(2012) Marka van Blitterswijk et al.   PLoS One

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

(2012) Marco Luigetti et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Identification of novelFUSmutations in sporadic cases of amyotrophic lateral sclerosis

(2011) Veronique V. Belzil et al.   Amyotrophic Lateral Sclerosis

Uncovering amyotrophic lateral sclerosis phenotypes: Clinical features and long-term follow-up of upper motor neuron-dominant ALS

(2011) Mario Sabatelli et al.   Amyotrophic Lateral Sclerosis

Proposed criteria for familial amyotrophic lateral sclerosis

(2011) Susan Byrne et al.   Amyotrophic Lateral Sclerosis

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

(2011) Michael A. van Es et al.   ANNALS OF NEUROLOGY

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

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

(2011) M. F. Hanby et al.   BRAIN

Ataxin-2 repeat-length variation and neurodegeneration

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

The syndrome of cognitive impairment in amyotrophic lateral sclerosis: a population-based study

(2011) Julie Phukan et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

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

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant

(2011) Marco Luigetti et al.   NEUROBIOLOGY OF AGING

A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

(2011) Giuseppe Borghero et al.   NEUROBIOLOGY OF AGING

FUS mutations in sporadic amyotrophic lateral sclerosis: Clinical and genetic analysis

(2011) William Sproviero et al.   NEUROBIOLOGY OF AGING

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

(2011) P. Van Damme et al.   NEUROLOGY

P525L FUS mutation is consistently associated with a severe form of juvenile Amyotrophic Lateral Sclerosis

(2011) Amelia Conte et al.   NEUROMUSCULAR DISORDERS

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

FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands

(2010) Ewout J. N. Groen et al.   ARCHIVES OF NEUROLOGY

Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Christopher Hewitt et al.   ARCHIVES OF NEUROLOGY

Research Advances in Amyotrophic Lateral Sclerosis, 2009 to 2010

(2010) Rebecca Traub et al.   Current Neurology and Neuroscience Reports

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

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

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

TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis

(2010) F. L. Conforti 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

Parkinsonism and motor neuron diseases: Twenty-seven patients with diverse overlap syndromes

(2010) Rebecca M. Wolf Gilbert et al.   MOVEMENT DISORDERS

Fusgene mutations in familial and sporadic amyotrophic lateral sclerosis

(2010) Rosa Rademakers et al.   MUSCLE & NERVE

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

(2010) Andrew C. Elden et al.   NATURE

FUS mutations in sporadic amyotrophic lateral sclerosis

(2010) Shiao-Lin Lai et al.   NEUROBIOLOGY OF AGING

TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis

(2010) Rui Huang et al.   NEUROBIOLOGY OF AGING

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

(2010) D. Baumer et al.   NEUROLOGY

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

(2010) J. Yan et al.   NEUROLOGY

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

The occurrence of mutations inFUSin a Belgian cohort of patients with familial ALS

(2009) P. Van Damme et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

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

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

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis

(2009) Masaki Kamada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany

(2009) Carsten Drepper et al.   NEUROBIOLOGY OF AGING

Heterozygous SOD1 D90A mutation presenting as slowly progressive predominant upper motor neuron amyotrophic lateral sclerosis

(2009) Marco Luigetti et al.   NEUROLOGICAL SCIENCES

Study of 962 patients indicates progressive muscular atrophy is a form of ALS

(2009) W. -K. Kim et al.   NEUROLOGY

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

(2009) N. Ticozzi et al.   NEUROLOGY

Mutations in FUS cause FALS and SALS in French and French Canadian populations

(2009) V. V. Belzil et al.   NEUROLOGY

ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration

(2009) J. M. Ravits et al.   NEUROLOGY

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

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

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

(2008) Ilse Gijselinck et al.   NEUROBIOLOGY OF AGING

Genetics of familial amyotrophic lateral sclerosis

(2008) P. N. Valdmanis et al.   NEUROLOGY

Prevalence of SOD1 mutations in the Italian ALS population

(2008) A. Chio et al.   NEUROLOGY

Natural history of young-adult amyotrophic lateral sclerosis

(2008) M. Sabatelli et al.   NEUROLOGY

TDP-43 Is Not a Common Cause of Sporadic Amyotrophic Lateral Sclerosis

(2008) Rita J. Guerreiro et al.   PLoS One

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Analysis of survival and prognostic factors in amyotrophic lateral sclerosis: a population based study

(2007) S Zoccolella et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY