Genotype-phenotype correlations of amyotrophic lateral sclerosis (Q26769063)

amyotrophic lateral sclerosis

Europe PubMed Central

title

Genotype-phenotype correlations of amyotrophic lateral sclerosis (English)

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main subject

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1 reference

Hong-Fu Li

1

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Zhi-Ying Wu

series ordinal

2

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language of work or name

English

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publication date

2016

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published in

Translational Neurodegeneration

1 reference

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

volume

5

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issue

1

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page(s)

3

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cites work

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ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19

7 April 2017

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

7 April 2017

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C9orf72 repeat expansions are a rare genetic cause of parkinsonism

7 April 2017

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Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

7 April 2017

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

7 April 2017

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

7 April 2017

1 reference

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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

7 April 2017

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A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Exome sequencing reveals VCP mutations as a cause of familial ALS

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

7 April 2017

1 reference

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

State of play in amyotrophic lateral sclerosis genetics

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Age and founder effect of SOD1 A4V mutation causing ALS

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutations of optineurin in amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Novel mutations support a role for Profilin 1 in the pathogenesis of ALS.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

A novel splice-site mutation in ALS2 establishes the diagnosis of juvenile amyotrophic lateral sclerosis in a family with early onset anarthria and generalized dystonias.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

The role of FUS gene variants in neurodegenerative diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Recent progress in the genetics of motor neuron disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

The epidemiology of ALS: a conspiracy of genes, environment and time

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Amyotrophic lateral sclerosis: an update on recent genetic insights

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Clinical and genetic heterogeneity of amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

TARDBP mutations in Parkinson's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Genetic overlap between apparently sporadic motor neuron diseases

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Exome sequencing identifies FUS mutations as a cause of essential tremor

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Misregulated RNA processing in amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Repeat expansion in C9ORF72 in Alzheimer's disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Motor neuron dysfunction in frontotemporal dementia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Effects of gender in amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Senataxin mutations and amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Motor neurone disease: clinical features, diagnosis, diagnostic pitfalls and prognostic markers.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Incidence of amyotrophic lateral sclerosis in Europe

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

DCTN1 mutations in Perry syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Molecular biology of amyotrophic lateral sclerosis: insights from genetics

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

31 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

The epidemiology of amyotrophic lateral sclerosis (ALS/MND) in people aged 80 or over

31 May 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Advances in motor neurone disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifier in the recessive haplotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Autosomal dominant juvenile amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Familial Amyotrophic Lateral Sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

A case of ALS-FTD in a large FALS pedigree with a K17I ANG mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Mutant dynactin in motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

T137A variant is a pathogenetic SOD1 mutation associated with a slowly progressive ALS phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS40035-016-0050-8

Mutational analysis of MATR3 in Taiwanese patients with amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Intermediate-length polyglutamine in ATXN2 is a possible risk factor among Eastern Chinese patients with amyotrophic lateral sclerosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Identify mutation in amyotrophic lateral sclerosis cases using HaloPlex target enrichment system.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

SQSTM1 mutations in Han Chinese populations with sporadic amyotrophic lateral sclerosis.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

ATXN2 CAG repeat expansions increase the risk for Chinese patients with amyotrophic lateral sclerosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Novel deletion mutations of OPTN in amyotrophic lateral sclerosis in Japanese.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4738789

Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes

28 November 2018

1 reference

12 December 2020

Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation

1 reference

12 December 2020

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis

1 reference

12 December 2020

CuZn-Superoxide Dismutase in D90A Heterozygotes from Recessive and Dominant ALS Pedigrees

1 reference

12 December 2020

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

1 reference

12 December 2020

FUS mutations in sporadic juvenile ALS: another step toward understanding ALS pathogenesis

1 reference

12 December 2020

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis

1 reference

12 December 2020

[Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis]

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel optineurin truncating mutation and three glaucoma-associated missense variants in patients with familial amyotrophic lateral sclerosis in Germany

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening of OPTN in French familial amyotrophic lateral sclerosis

1 reference

12 December 2020

Spinocerebellar ataxia type 2 with Levodopa-responsive parkinsonism culminating in motor neuron disease

1 reference

12 December 2020

Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature

1 reference

12 December 2020

Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis

1 reference

12 December 2020

10.1186/S40035-016-0050-8

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

3170194

Dimensions Publication ID

1046352831

0 references

OpenCitations bibliographic resource ID

3170194

1 reference