(Q38078984)

28 August 2017

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title

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

28 August 2017

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1

M Sabatelli

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28 August 2017

A Conte

2

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PubMed ID

23379621

28 August 2017

M Zollino

series ordinal

3

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28 August 2017

12 March 2013

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28 August 2017

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28 August 2017

83

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28 August 2017

5

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28 August 2017

408-416

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

28 August 2017

1 reference

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

21 January 2018

1 reference

Incidence of amyotrophic lateral sclerosis in southern Italy: a population based study.

21 January 2018

1 reference

Natural history of young-adult amyotrophic lateral sclerosis

21 January 2018

1 reference

Young-onset sporadic amyotrophic lateral sclerosis: a distinct nosological entity?

21 January 2018

1 reference

Sporadic juvenile amyotrophic lateral sclerosis. A clinicopathological study of a case with neuronal cytoplasmic inclusions containing RNA.

21 January 2018

1 reference

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

21 January 2018

1 reference

The central nervous system in motor neurone disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Genetic overlap between apparently sporadic motor neuron diseases

21 January 2018

1 reference

Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria

21 January 2018

1 reference

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

21 January 2018

1 reference

Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Ataxin-2 repeat-length variation and neurodegeneration

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

21 January 2018

1 reference

Research advances in amyotrophic lateral sclerosis, 2009 to 2010.

21 January 2018

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Genetics of familial amyotrophic lateral sclerosis

21 January 2018

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 January 2018

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

21 January 2018

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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

21 January 2018

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

21 January 2018

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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.

21 January 2018

1 reference

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

21 January 2018

1 reference

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

21 January 2018

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Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis

21 January 2018

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Ubiquitin deposits in anterior horn cells in motor neurone disease.

21 January 2018

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Lewy body-like hyaline inclusions in sporadic motor neuron disease are ubiquitinated

21 January 2018

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

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Rethinking ALS: the FUS about TDP-43.

21 January 2018

1 reference

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene

21 January 2018

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High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.

21 January 2018

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P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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An estimate of amyotrophic lateral sclerosis heritability using twin data.

21 January 2018

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The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

21 January 2018

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

21 January 2018

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Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

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Amyotrophic lateral sclerosis as a complex genetic disease

21 January 2018

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Genetics of sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

21 January 2018

1 reference

SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study

21 January 2018

1 reference

FUS mutations in sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis

21 January 2018

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Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium

21 January 2018

1 reference

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

21 January 2018

1 reference

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

1 reference

Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia.

21 January 2018

1 reference

Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis.

21 January 2018

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Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients

21 January 2018

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TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis.

21 January 2018

1 reference

Fus gene mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Intense superoxide dismutase-1 immunoreactivity in intracytoplasmic hyaline inclusions of familial amyotrophic lateral sclerosis with posterior column involvement.

21 January 2018

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Proposed criteria for familial amyotrophic lateral sclerosis

21 January 2018

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?True? sporadic ALS associated with a novel SOD-1 mutation

21 January 2018

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

21 January 2018

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Mutations in all five exons ofSOD-1 may cause ALS

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CGE.12117

1 reference

28 August 2017

1 reference

PubMed ID

23379621